OncoLink
NCI CANCERLIT® Search: Genetic Counseling and Screening - January 2002
National Cancer Institute®

  • [From gene to disease; from BRCA1 or BRCA2 to breast cancer]

  • Genetic testing for colorectal carcinoma susceptibility: focus group responses of individuals with colorectal carcinoma and first-degree

  • CUX2, a potential regulator of NCAM expression: genomic characterization and analysis as a positional candidate susceptibility gene for bipolar

  • Factor VIII gene inversions and polymorphisms in Brazilian patients with haemophilia A: carrier detection and prenatal diagnosis.

  • A haemophilia A and B molecular genetic diagnostic programme in Hungary: a highly informative and cost-effective strategy.

  • The Asp84Glu variant of the MC1R gene in Norwegian melanoma patients.

  • Conditions for single-strand conformation polymorphism (SSCP) analysis of BRCA1 gene using an automated electrophoresis unit.

  • Cultural aspects of cancer genetics: setting a research agenda.

  • Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation:

  • Pseudoxanthoma elasticum: evidence for the existence of a pseudogene highly homologous to the ABCC6 gene.

  • Hereditary endocrine neoplasias: fundamental insights and the practice of clinical cancer genetics.

  • Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families.

  • Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2).

  • Biosensor technology for real-time detection of the cystic fibrosis W1282X mutation in CFTR.

  • Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia.

  • Missense polymorphism in the human carboxypeptidase E gene alters enzymatic activity.

  • DHPLC analysis of the MECP2 gene in Italian Rett patients.

  • Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.

  • Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia.

  • Analysis of the entire coding region of the cystic fibrosis transmembrane regulator gene in idiopathic pancreatitis.

  • Clinical and genetic study of essential tremor in the Italian population.

  • The parkin gene and its phenotype. Italian PD Genetics Study Group, French PD Genetics Study Group and the European Consortium on Genetic

  • Presymptomatic tests in Huntington's disease and dominant ataxias.

  • The parkin gene is not a major susceptibility locus for typical late-onset Parkinson's disease.

  • Predictive genetic testing in children and adults: a study of emotional impact.

  • A community based study on intentions regarding predictive testing for hereditary breast cancer.

  • Risk of breast and ovarian cancer in women with strong family histories.

  • Prognostic significance of p53, bax and bcl-2 gene expression in patients with laryngeal carcinoma.

  • Prenatal diagnosis of chromosome disorders in Tunisian population.

  • Molecular basis of phenylketonuria in Cuba.

  • The molecular basis of Dutch infantile nephropathic cystinosis.

  • Long-term outcomes of genetic counseling in women at increased risk of developing hereditary breast cancer.

  • Genetics of familial paragangliomas: past, present, and future.

  • Meckel Gruber syndrome--a single gene cause of recurrent neural tube defects.

  • RB1 genetic testing as a clinical service: a follow-up study.

  • Characteristics of TEL/AML-1 positive acute lymphoblastic leukemia in Hungarian children.

  • Cystic fibrosis phenotype evaluation and paternity outcome in 50 males with congenital bilateral absence of vas deferens.

  • Polymorphic markers in MHC class II/III region: a study on Italian patients with myasthenia gravis.

  • Association of APOE epsilon4 allele with survival in amyotrophic lateral sclerosis.

  • Molecular analysis of SMN, NAIP and P44 genes of SMA patients and their families.

  • The -174/-597 promoter polymorphisms in the interleukin-6 gene are not associated with susceptibility to multiple sclerosis.

  • A clinical study of patients with genetically confirmed Huntington's disease from India.

  • Attacking ataxia.

  • [Hereditary nonpolyposis colorectal carcinoma (HNPCC). Current review of etiology, clinical aspects, diagnosis and therapy]

  • Use of monozygotic twins in search for breast cancer susceptibility loci.

  • Marked reduction of the Cu/Zn superoxide dismutase polypeptide in a case of familial amyotrophic lateral sclerosis with the homozygous mutation.

  • Prophylactic total gastrectomy for familial gastric cancer.

  • New developments in genetics-knowledge, attitudes and information needs of practice nurses.

  • [From gene to disease; TSC1 and TSC2 genes and tuberous sclerosis complex]

  • Evaluation of the impact of two educational interventions on GP management of familial breast/ovarian cancer cases: a cluster randomised

  • Breast cancer epidemiology, prevention, and early detection.

  • [Hereditary colorectal carcinomas - reflection on preventive surgery]

  • Report of the Fourteenth International Symposium of the Foundation for Promotion of Cancer Research: Pain Control, Palliative Medicine and

  • [Genetic aspects of colorectal cancer]

  • [Individual screening for colorectal cancer: which strategy for which patient?]

  • Understanding a commercially available genetic susceptibility test for periodontitis.

  • Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy.

  • [Two patients with retroperitoneal paragangliomas]

  • Guilt from negative genetic test findings.

  • Recent advances in molecular genetics of breast cancer.

  • Gene-scan method for the recognition of carriers and patients with p47(phox)-deficient autosomal recessive chronic granulomatous disease.

  • Hypercoagulability syndromes.

  • Genetic analysis as a valuable key to diagnosis and treatment of periodic Fever.

  • The role of genetic testing and effect on patient care.

  • Genetic variation in the transforming growth factor beta1 gene in multiple sclerosis.

  • [From gene to disease; HD gene and Huntington disease]

  • [Hereditary non polyposis colorectal cancer]

  • [Role of the pathologist in management of familial cancers]

  • [Ethical issues in oncogenetics]

  • [Colon cancer and nutritional genetics: modifier genes]

  • Clinical usefulness of K-ras gene mutation detection and cytology in pancreatic juice in the diagnosis and screening of pancreatic cancer.

  • [Lump in the neck: 4 patients with a medullary thyroid carcinoma]

  • Genetic privacy and discrimination: a survey of state legislation. Comment.

  • [Insurance and genetics - options to prevent undesirable consequences]

  • Prevalence of breast cancer predisposition gene mutations in Chinese women and guidelines for genetic testing.

  • Privacy and confidentiality of genetic information: what rules for the new science?

  • Cardiac genes and gene databases for cardiovascular disease genetics.

  • Hereditary cancers in obstetrics and gynecology.

  • 10 Swiss kindreds with multiple endocrine neoplasia type 1: assessment of screening methods.

  • Quality control in mutation analysis: the European Molecular Genetics Quality Network (EMQN).

  • BIGH3 gene mutations and rapid detection in Korean patients with corneal dystrophy.

  • Colorectal cancer screening. Recommendation statement from the Canadian task force on preventive health care.

  • Surveillance or surgery? A description of the factors that influence high risk premenopausal women's decisions about prophylactic

  • Oncology nurse training in cancer genetics.

  • Mutation detection in long QT syndrome: a comprehensive set of primers and PCR conditions.

  • The Asp1822Val variant of the APC gene is a common polymorphism without clinical implications.

  • A simple non-isotopic method to show pitfalls during mutation analysis of the glucocerebrosidase gene.

  • Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel

  • The microtubule associated protein Tau gene and Alzheimer's disease--an association study and meta-analysis.

  • BRCA1 and BRCA2: to test or not to test.

  • Risk assessment in genetics: a semi-quantitative approach.

  • Hereditary breast/ovarian cancer--pitfalls in genetic counseling.

  • High frequency of G to A transition mutation in the stromal cell derived factor-1 gene in India, a chemokine that blocks HIV-1 (X4) infection:

  • Screening breast cancer patients for ATM mutations and polymorphisms by using denaturing high-performance liquid chromatography.

  • A G339R mutation in the CTNS gene is a common cause of nephropathic cystinosis in the south western Ontario Amish Mennonite population.

  • Microdeletion in the FMR-1 gene: an apparent null allele using routine clinical PCR amplification.

  • Screening families with endometrial and colorectal cancers for germline mutations.

  • Psychological impact of genetic counselling and testing in women previously diagnosed with breast cancer.

  • Genetic discrimination and health care: ethical reflections.

  • A legacy of mistrust: African-Americans, the medical profession, and AIDS.

  • Mutation screening at the RNA level of the STK11/LKB1 gene in Peutz-Jeghers syndrome reveals complex splicing abnormalities and a

  • Automated mutation screening using dideoxy fingerprinting and capillary array electrophoresis.

  • Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its

  • Huntington disease phenocopy is a familial prion disease.

  • Cloning and mutation analysis of the human potassium channel KCNQ2 gene promoter.

  • A new locus on chromosome 19 linked with late-onset Alzheimer's disease.

  • Comment: limiting toxic information.

  • Phenotypic variation of a novel nonsense mutation in the P0 intracellular domain.

  • Archived specimens: a platform for discussion.

  • Effect of ApoE and tau on age of onset of progressive supranuclear palsy and multiple system atrophy.

  • A novel mutation in glial fibrillary acidic protein gene in a patient with Alexander disease.

  • Experiences of genetic risk: disclosure and the gendering of responsibility.

  • The ethics of preadoption genetic testing.

  • Counseling and decision dilemmas associated with fetal blood sampling.

  • A practical approach to dysmorphology.

  • [Prenatal diagnosis]

  • [Fetal echocardiography and clinical genetics--a close correlation]

  • A genetic diagnostic survey in an institutionalized population of 262 moderately mentally retarded patients: the Borgerstein experience.

  • Factors influencing the reproductive decision after genetic counseling.

  • Attitudes of at-risk and affected individuals regarding presymptomatic testing for autosomal dominant polycystic kidney disease.

  • Biochemical screening for chromosome disorders.

  • [Genetic counseling: evaluation of 1000 records]

  • Analysis of mosaic states in amniotic fluid using the in-situ colony technique.

  • Prevention of chromosomal disorders. Roles for clinicians.

  • Phenotypic variability in Meckel-Gruber syndrome.

  • Calculated risk of chromosomal abnormalities in twin gestations.

  • [Fetal diagnosis of Edwards syndrome]

  • [Transabdominal and transcervical chorion biopsies. Indications, techniques and current results]

  • First-trimester maternal serum alpha-fetoprotein and human chorionic gonadotropin screening for chromosome defects.

  • Possible association of rare autosomal folate sensitive fragile sites and idiopathic mental retardation: a blind controlled population study.

  • Familial porencephaly.

  • Prenatal genetic counseling.

  • Chromosomal mosaicism in chorionic villus sampling.

  • [Genetic counseling and ultrasonographic prenatal diagnosis of skeletal dysplasias in monogenic and chromosomal syndromes]

  • Recurrence risks for near relatives of children with sensori-neural deafness.

  • [Prenatal diagnosis and characteristics of chromosome aberrations in families with genetic risk]

  • Fetal hydrocephalus. Clinical significance of associated anomalies and genetic counseling: a pathological approach.

  • Triphalangeal thumb and split foot in the same family.

  • DNA prenatal diagnosis.

  • Identification of the cystic fibrosis gene.

  • The prevalence of chromosome diseases in the general population of Sichuan, China.

  • Prevalence of fra(X) and other specific diagnoses in autistic individuals in a Danish county.

  • [Fetal pathology--in relation to prenatal diagnosis and genetic counseling]

  • Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark.

  • Cytogenetic studies of familial schizophrenics.

  • Familial short rib syndrome, type Beemer, with pyloric stenosis and short intestine, one case diagnosed prenatally.

  • [Value of ultrasonic diagnosis of fetal malformations in the detection of chromosomal abnormalities]

  • [Family screening in familial adenomatous polyposis--organization of a preventive and after care program for patients and risk probands]

  • Chromosome analysis of 894 patients.

  • A clinical, cytogenetic and familial study of 307 mentally retarded, institutionalized, adult male patients with special interest for fra(X)

  • An analysis of multiple congenital anomaly syndromes in a Chinese population.

  • Leber's hereditary optic neuropathy and Kearns-Sayre syndrome: mitochondrial DNA mutations.

  • [Evaluation of the risks of transabdominal chorionic villus sampling. 600 cases]

  • Medical genetics.

  • Genetic counseling of a couple presenting respectively terminal transverse defects and congenital arthrogryposis.

  • Fragile sites and spontaneous abortions.

  • [Early detection of hereditary hemochromatosis and Wilson's disease]

  • Genetic counseling for patients with birth defects.

  • Autosomal recessive microcephaly with severe psychomotor retardation.

  • [Cytogenetic study of 500 patients selected in the research for chromosomal anomalies]

  • Preimplantation genetics and recovery of fetal cells from maternal blood.

  • Single-operator comparison of early and mid-second-trimester amniocentesis.

  • Ultrasound detection of genetic anomalies.

  • Smith-Lemli-Opitz syndrome in siblings.

  • [Sonography and prenatal chromosome diagnosis]

  • [Screening for fragile X syndrome in handicapped boys]

  • Normal high-resolution karyotypes in 26 unrelated individuals with hereditary colorectal neoplasia.

  • MCAD deficiency in the Holderman Mennonite population in central Kansas.

  • [Neonatal diabetes mellitus and microcephaly. Indications for autosomal recessive inheritance]

  • [Importance of genetic counseling in inborn errors of metabolism]

  • Prospective intervention trial of a screening protocol to identify fetal trisomy 18 using maternal serum alpha-fetoprotein, unconjugated

  • Unstable DNA sequence in myotonic dystrophy.

  • [Hereditary pathology load of the population and regional medical-genetic counseling]

  • Genetic conditions among patients receiving genetic services in middle Tennessee.

  • Prospective maternal serum human chorionic gonadotropin screening for the risk of fetal chromosome anomalies and of subsequent fetal and

  • [Genetics in medicine: the 5th decade in Quebec]

  • Prenatal diagnosis of congenital heart disease and fetal karyotyping.

  • Understanding and controlling inherited diseases in dogs and cats.

  • Low maternal serum levels of pregnancy associated plasma protein A (PAPP-A) in the first trimester in association with abnormal fetal

  • Population screening in cystic fibrosis.

  • [Active screening for genetic pathologic conditions in the pediatric population in the Dolny Kubin district]

  • Prenatal diagnosis: choices women make about pursuing testing and acting on abnormal results.

  • Immediate and long-term applications of technology.

  • Prenatal diagnosis: choices women make about pursuing testing and acting on abnormal results.

  • Methotrexate and reproduction in men: case report and recommendations.

  • [X-linked mental retardation: variations in the fragile X mutations and genetic counseling]

  • Age of gestation (size) at embryonic demise: tailoring counseling for lethal versus potentially viable aneuploidy.

  • [Chromosomal syndromes in the autosomal system and the problems of differential diagnosis]

  • Expanding multiple marker screening for Down's syndrome to include Edward's syndrome.

  • First-trimester biochemical screening for fetal chromosome abnormalities and neural tube defects.

  • Chromosomal abnormalities in the newborn period.

  • [Rescheduling genetic amniocentesis from the 16th to the 13th/14th week of pregnancy--report of experience]

  • Genetic factors in lissencephaly syndromes: a review.

  • Phenotype and counseling in lacrimo-auriculo-dento-digital (LADD) syndrome.

  • [Different from others? The child with congenital anomalies]

  • Diffusion of information about genetic risk within families.

  • Diffusion of information about genetic risk within families.

  • Linkage analysis with chromosome 9 markers in hereditary essential tremor.

  • [Genetic counseling in chromosomal disorders]

  • Testing for cancer risk.

  • [Methodology and effectiveness of genetic counseling]

  • [Genetic counseling in neurosurgical diseases (author's transl)]

  • Amniocentesis for antenatal diagnosis of genetic defects.

  • Diagnosis of a triploid fetus at genetic amniocentesis.

  • Genetic amniocentesis.

  • [Medical genetic consultation in eye diseases]

  • Sister chromatid exchange analysis.

  • Prenatal cytogenetic diagnosis: a mini-review.

  • Two conceptions in a 45,X woman.

  • Chromosome findings in 2,500 second trimester amniocenteses.

  • [Interruption of pregnancy based on prenatal diagnosis]

  • Genetics for the clinical obstetrician-gynecologist.

  • Trisomy-12p syndrome: Family study and prenatal diagnosis.

  • Cases of a Genetic Counselling Clinic.

  • Reciprocal translocations: a way to predict the mode of imbalanced segregation by pachytene-diagram drawing.

  • Genetic screening for mental retardation in Michigan.

  • [Prenatal diagnosis: results and risks experienced in West Germany]

  • [Genetic counseling in campomelic dysplasia (apropos of 2 cases)]

  • A recognizable phenotype in a child with partial duplication 13q in a family with t(10q;13q).

  • [Concurrence of the diagnoses in siblings with congenital developmental defects]

  • Principles of genetics as related to the chromosome disorders and congenital malformations with reference to prenatal diagnosis and

  • [Clinical, biochemical and socio-medical problems in cystic fibrosis]

  • Prenatal detection of Turner's syndrome in conjunction with trisomy 20 mosaicism (45,X/46, X, +0).

  • Rates of chromosome abnormalities at different maternal ages.

  • Genetic counselling and the general practitioner.

  • [Genetic problems in mentally retarded children]

  • Amniocentesis: prenatal diagnosis.

  • [Mental retardation: genetic counseling and prenatal diagnosis]

  • [The right of families, the public and physicians to know and understand local conditions in prenatal diagnosis]

  • [Antenatal diagnosis of structural chromosome anomalies. 226 cases (author's transl)]

  • [Genetic questions of hemophilia]

  • Genetics of congenital deafness.

  • Genetic counselling and obstetrics.

  • An overview of genetic counseling.

  • Detection of normal and aberrant chromosomes in chicken embryos and in tumor cells.

  • [Genetic causes of congenital defects]

  • Chromosome abnormalities in newborn children. Physical aspects.

  • [Genetic counseling and risk]

  • Genetic counselling in orthopaedic disease.

  • Dup(4p)del(9p) in a familial mental retardation syndrome. Resemblance to de Lange syndrome detected by high-resolution banding.

  • Recurrence risk in 21q/21q translocation of Down syndrome.

  • [Holoprosencephaly--clinical picture and genetic counseling in 6 cases]

  • Utilization of prenatal cytogenetic diagnosis in women of advanced maternal age in Australia, 1979-1982.

  • The centralized prenatal genetics screening program of New York City III: The first 7,000 cases.

  • Genetic aspects of arthrogryposis.

  • Genetic diagnostic amniocentesis.

  • Further examples of trisomy-20 mosaicism in amniotic cell cultures.

  • Responsibilities and methods for diagnosing genetic defects in the dying newborn infant.

  • [Autosomal translocation in gynaecology and obstetrics. 1. Reproduction behaviour and chance of chromosomal translocation carriers (author's

  • [Autosomal translocation in gynaecology and obstetrics. 2. Cytogenetic findings (author's transl)]

  • Chorionic villus sampling for first-trimester prenatal diagnosis: Northwestern University program.

  • Genetic screening: an overview.

  • Genetic disorders.

  • [DNA analysis and genetic counseling]

  • Fetal chromosome analysis in Virginia: results and complications of 2,288 cases.

  • [Ophthalmological findings in Aicardi syndrome--pitfalls in the differential diagnosis]

  • Genetic counselling in holoprosencephaly.

  • [Pediatric aspects of genetic counseling]

  • Cytogenetic investigations in 150 cases with complaints of sterility or primary amenorrhea.

  • [A case of bilateral retinoblastoma in light of genetic counseling]

  • Indications and techniques for genetic amniocentesis.

  • Second-trimester pregnancy termination for genetic abnormalities.

  • [Frequency of lethal congenital malformations. Experience supported by 600 autopsies]

  • Genetic considerations in clefts of the lip and palate.

  • Cytogenetic problems in genetic counseling.

  • Genetic screening of in vitro fertilization (IVF)-embryo transfer (ET) patients.

  • [Genetic counseling]

  • [The proportion of genetic diseases among patients admitted to a regional pediatric department]

  • Computers in paediatrics. 3. Genetic counselling for autosomal dominant conditions.

  • [Small supernumerary chromosomes]

  • [Congenital and hereditary nephropathies]

  • [Experiences of parents]

  • Genetic counseling of families with endocrine disorders.

  • [Medical and genetic counseling for families with hereditary diseases]

  • Midwifery. 1. Detection of fetal abnormality.

  • Huntington's disease: the nursing process.

  • [Cytogenetic, gynaecological and sonographic aspects of twin pregnancy with parental Robertsonian translocation 13/14 (author's transl)]

  • Prenatal diagnostic services in a community hospital.

  • The genetics of epilepsy.

  • Sequelae and support after termination of pregnancy for fetal malformation.

  • Maternal serum alpha-fetoprotein and fetal autosomal trisomies.

  • Suspected genetic disease.

  • Oncogenes.

  • The Tennessee genetics program.

  • Role of amniocentesis in ultrasound-detected fetal malformations.

  • "Genetic for medical practitioners".

  • Prenatal fetal karyotyping and maternal serum alpha-fetoprotein screening.

  • Approaches to the prenatal diagnosis of the Prader-Willi syndrome.

  • [Effectiveness of genetic counseling and genetic prevention]

  • [The effect of genetic counseling on the degree of knowledge of families]

  • [Possibilities and limitations of genetic family counseling (author's transl)]

  • Prenatal cytogenetic diagnosis--a current audit. A review of 2000 cases of prenatal cytogenetic diagnoses after amniocentesis, and comparisons

  • Chromosomal basis of recurrent fetal losses.

  • Genetic counseling in pediatric practice.

  • [Chromosome analysis of 522 cases of our genetic counseling clinic (author's transl)]

  • [Genetic risks of children of incestuous and consanguineous unions]

  • Recurrent miscarriages: cytogenetic causes and genetic counseling of affected families.

  • Molecular genetics: what is it and what is its impact on current and future medical practice?

  • The genetics of neurologic syndromes.

  • Who needs the clinical geneticist?

  • Chromosomal abnormality rates at amniocentesis and in live-born infants.

  • [Congenital contractural arachnodactyly (CCA syndrome)--an autosomal dominant hereditary connective tissue disease]

  • Relating genetics diagnoses and counseling to the community hospital.

  • [Applications of molecular genetics in clinical genetics]

  • A perimortem protocol for suspected genetic disease.

  • Fetal anatomical abnormalities and other associated factors in middle-trimester abortion and their relevance to patient counselling.

  • Genetic screening for gamete donors.

  • Genetic considerations in childhood epilepsy.

  • Congenital hydrocephalus: a review and protocol for perinatal management.

  • Neural tube defects: epidemiology, detection, and prevention.

  • Genetic counselling and prenatal diagnosis.

  • [Genetic counseling]

  • Association of tetra-amelia, ectodermal dysplasia, hypoplastic lacrimal ducts and sacs opening towards the exterior, peculiar face, and

  • Trisomy 20 mosaicism in prenatal diagnosis--a review and update.

  • [Prenatal diagnosis in the Genetic Counseling Department of the Child Health Center]

  • [Segregation problems in balanced structural chromosome rearrangements]

  • [Heredity in ophthalmology]

  • Chromosome anomalies as predictors of recurrence risk for spontaneous abortion.

  • The impact of DNA analysis on fetal diagnosis.

  • [Genetic counseling and prenatal diagnosis: from where, to where? A personal commentary]

  • Preconception and genetic counselling.

  • Human genetics and delivery of health care.

  • Congenital malformations in 10,000 consecutive births in a university hospital: need for genetic counseling and prenatal diagnosis.

  • The genetic aspects of neurofibromatosis.

  • Five generations of t(4;8)(q35;q13) leading to a case of partial 8q trisomy with consideration of potential pregnancy outcomes from

  • Familial third-fourth pharyngeal pouch syndrome with apparent autosomal dominant transmission.

  • Dominantly inherited congenital cerebellar ataxia with atrophy of the vermis.

  • [The impact of genetic counseling on the fertility of couples]

  • [Significance of family photographs for genetic counseling in sex-linked heredity]

  • Cytogenetic study on 282 patients with suspected chromosomal aberration.

  • Genetic aspects of "uncomplicated" hydrocephalus and its relationship to neural tube defect.

  • DNA and Huntington's chorea.

  • A review of genetics in orthopaedics.

  • [Genetics: a new specialty]

  • [Better knowledge of genetic counseling]

  • [Genic diseases and chromosome diseases]

  • Implications for genetic counseling in frequently seen neuromuscular diseases.

  • Understanding genetic and birth defects - an essential skill for the occupational health nurse.

  • Genetic screening.

  • [Etiology of congenital cardiopathies and genetic counseling]

  • Neurological disorders with autosomal dominant transmission.

  • Genetic diseases.

  • Chromosomal syndromes.

  • [Preventive aspects of genetic counselling (author's transl)]

  • Parental decision following prenatal diagnosis of fetal chromosome abnormality.

  • [Robertsonian translocation and genetic counseling]

  • [Genetic counseling in balanced chromosomal inversions]

  • [Genetic counseling in reciprocal translocations]

  • [Balanced chromosome rearrangements with abnormal phenotype]

  • [Chromosome translocations: study of 232 cases originating from 144 families]

  • [Medical genetic counseling]

  • Pregnancy termination after detection of fetal chromosomal or metabolic abnormalities.

  • Spondyloepiphyseal dysplasia tarda. Report of a family with autosomal dominant transmission.

  • The genetic basis of cleft lip and palate deformity.

  • [Gene technology from the viewpoint of genetic counseling]

  • [New mutations and paternal age. A special situation in genetic counseling]

  • Pallister-Killian mosaic syndrome with emphasis on the adult phenotype.

  • [Genetic counseling in habitual abortion]

  • [Chromosome analysis of 1133 cases in genetic counseling clinic]

  • Genetic counseling: using the information wisely.

  • [Genetic counseling and indications for prenatal diagnosis]

  • Counseling for low maternal serum alpha-fetoprotein should emphasize all chromosome anomalies, not just Down syndrome.

  • Myotonic muscular dystrophy.

  • Orofaciodigital syndrome type IV: report of a patient.

  • Nephropathy in hereditary osteo-onycho dysplasia (HOOD): variable expression or genetic heterogeneity?

  • Phenotypic correlates of autosomal recessive (infantile) polycystic disease of kidney and liver: criteria for classification and genetic

  • [Familial kidney agenesis: renal adysplasia as a cause of urogenital abnormalities in 3 generations]

  • Assessment of genetic disorders: pediatrics.

  • Hydrops revisited: literature review of 1,414 cases published in the 1980s.

  • [Facioscapulohumeral neuromuscular syndromes--problems of differential and early diagnosis and genetic counseling]

  • [Invasive prenatal diagnosis: methods, perspectives, limits]

  • [Prenatal diagnosis of a translocation (X;Y) and genetic counseling]

  • [Chromosome analysis of diagnostic amniotic fluid cell cultures]

  • Indications for cytogenetic studies.

  • Chromosome instability syndromes.

  • [Is it possible to give genetic counseling in pigmentary retinopathy?]

  • Detection of breakpoints in submicroscopic chromosomal translocation, illustrating an important mechanism for genetic disease.

  • Cytogenetics update for pediatricians.

  • Chromosomal anomalies and autosomal syndromes.

  • Cytogenetic studies in patients with multiple anomalies with or without mental retardation.

  • Chorionic villus sampling: implementing a new genetic diagnostic tool.

  • Prenatal diagnosis in twin pregnancies.

  • Hereditary disorders in the Eastern Mediterranean Region.

  • Genetics review: relation to ocular disease.

  • [Preimplantation genetic diagnosis. From research to clinical application]

  • Wisconsin Stillbirth Service Program: I. Establishment and assessment of a community-based program for etiologic investigation of intrauterine

  • LADD syndrome in five members of a three-generation family and prenatal diagnosis.

  • Effectiveness of combining maternal serum alpha-fetoprotein and hCG in a second-trimester screening program for Down syndrome.

  • Counselling following diagnosis of fetal abnormality: a comparison between German, Portuguese and UK geneticists.

  • Human preimplantation diagnosis: needs, efficiency and efficacy of genetic and chromosomal analysis.

  • A cost-effectiveness analysis of amniocentesis and chorionic villus sampling for prenatal genetic testing.

  • Isolation and characterisation of a panel of cosmids which allows unequivocal identification of chromosome deletions involving the RB1

  • [Waardenburg's syndrome]

  • Fluorescence in situ hybridisation on formalin fixed fetal tissue in the diagnosis of chromosomal syndromes.

  • A contribution to the differential diagnosis of the "group of schizophrenias": structural abnormality of chromosome 4.

  • Role of genetics in health care.

  • [Familial thymoma and translocation t (14;20) (q24;p13)]

  • Genetic counseling for major psychiatric disorders.

  • [Prenatal diagnosis of genetic diseases: Lausanne experience 1989-1993]

  • Biochemical screening.

  • First-trimester maternal serum alpha-fetoprotein as a marker for fetal chromosomal disorders. Dutch Working Party on Prenatal Diagnosis.

  • Molecular diagnosis (1).

  • Audit of a screening service for fetal abnormalities using early ultrasound scanning and maternal serum alpha-fetoprotein estimation

  • Fetal karyotyping for chromosome abnormalities after an unexplained elevated maternal serum alpha-fetoprotein screening.

  • Genetic analysis prior to selective fetal reduction in multiple pregnancy: technical aspects and clinical outcome.

  • Clinical significance of fetal choroid plexus cysts.

  • [Genetics and immunology in medicine]

  • [Genetic risks of in vitro fertilization]

  • [Risk assessment for familial occurrence of breast cancer]

  • [Tuberous sclerosis: typical complications of a hereditary disease and therapeutic options]

  • Aniridia: recent achievements in paediatric practice.

  • [Clinical and genetic heterogeneity of limb-girdle muscular dystrophy]

  • A genetic diagnostic survey in an institutionalized population of 116 moderately to severely retarded male patients: the Rekem experience.

  • Problems of genetic diseases and their services in Indonesia: a country report.

  • Atrial septal defect type Ostium secundum with and without prolonged atrioventricular conduction.

  • Telomeric translocations are uncommon.

  • Clinical experience with balanced reciprocal translocations.

  • [Diseases due to instability of DNA]

  • Strategies and logistical requirements for efficient testing in genetic disease.

  • A 35-year-old pregnant woman considering maternal serum screening and amniocentesis.

  • [Prenatal screening for abnormalities and chromosomal disorders]

  • [Improved prenatal diagnostic possibilities for congenital abnormalities and chromosomal disorders. Advantages and disadvantages of screening and

  • [Molecular analysis of the heterogeneity of hereditary monosymptomatic sensorineural hearing loss]

  • Family care related to alpha-fetoprotein screening.

  • Who wants to know?

  • [Six cases of basal cell nevus carcinoma in three families]

  • Fetal karyotyping in twin pregnancies: selection of technique by measurement of fetal nuchal translucency.

  • Genetic heterogeneity of inherited cerebral cavernous malformation.

  • The genetics of male infertility.

  • Holoprosencephaly in the west of Scotland 1975-1994.

  • Clinical symptoms and possible anticipation in a large kindred of familial restless legs syndrome.

  • Medical genetics for the practitioner.

  • Risk of Down syndrome and any clinically significant chromosome defect in pregnancies with abnormal triple-screen and normal targeted

  • Failure to support a pseudoautosomal locus for schizophrenia.

  • Control of hereditary diseases. Report of a WHO Scientific Group.

  • Maternal serum screening for fetal Down syndrome: the detection of other pathologies.

  • The PRINS technique: potential use for rapid preimplantation embryo chromosome screening.

  • Current status of preimplantation diagnosis.

  • Maternal serum screening for fetal genetic disorders.

  • ACOG committee opinion. Genetic evaluation of stillbirths and neonatal deaths. Number 178, November 1996. Committee on Genetics. American

  • The effect of nuchal translucency measurement on second-trimester biochemical screening for Down's syndrome.

  • [Molecular genetic study in congenital myotonic dystrophy]

  • Penetrance of familial hypertrophic cardiomyopathy.

  • Cerebral arteriovenous malformation in three successive generations.

  • Absence of alpha-sarcoglycan and novel missense mutations in the alpha-sarcoglycan gene in a young British girl with muscular dystrophy.

  • [Screening in activated protein C resistance]

  • A mild phenotype of autosomal dominant retinitis pigmentosa is associated with the rhodopsin mutation Pro-267-Leu.

  • Genetic counselling before intracytoplasmic sperm injection.

  • [Value of a genetic evaluation before an intracytoplasmic sperm injection procedure]

  • Intrauterine growth restriction: a genetic perspective.

  • Genetic services in Israel.

  • ACOG committee opinion. Advanced paternal age: risks to the fetus. Number 189, October 1997. Committee on Genetics. American College of

  • Molecular genetic analysis of the Prader-Willi syndrome by using fluorescent multiplex PCR of the dinucleotide repeats on chromosome

  • A lethal, unclassifiable form of micromelic dwarfism with posterior cleft palate, multiple cervicothoracal vertebral anomalies and iliac

  • A case of mosaic tetrasomy 12p (Pallister-Killian Syndrome) diagnosed prenatally: comparison of chromosome analyses of various cells obtained

  • [Clinical genetics in The Netherlands. I. Organization, activities and laboratory diagnosis]

  • [Clinical genetics in The Netherlands. II. Genetic counseling and prenatal diagnosis]

  • [Genetics of mental retardation]

  • Consequences of the delayed diagnosis of ataxia-telangiectasia.

  • Menin mutations in the diagnosis and prediction of multiple endocrine neoplasia type 1.

  • [Medullary thyroid gland carcinoma. Sporadic/familial. Screening when and why?]

  • [Prenatal diagnosis. I: Prenatal diagnosis program at the Medical Genetics Unit of the Universidad de Zulia, Maracaibo, Venezuela]

  • Recurrent miscarriage: causes, evaluation, and treatment.

  • Phenotypic spectrum of tetrasomy 12p and prenatal counseling: potential underestimation of severity.

  • Prevention of genetic disorders.

  • The molecular genetics of head and neck cancer.

  • Huntington's disease confirmed by genetic testing in five African families.

  • Preoperative screening for genetic abnormalities in men with nonobstructive azoospermia before testicular sperm extraction.

  • Uniparental disomies in unselected populations.

  • Chromosomal losses and gains in meningiomas: comparative genomic hybridization (CGH) study of the whole genome.

  • Mexican geneticists' opinions on disclosure issues.

  • [Assisted fertilization in male sterility is not without risks. Genetic aberrations can be transmitted to children and grandchildren]

  • [Hereditary deafness in Turkey. Initial results]

  • New technology and new challenges for assisted reproduction.

  • [Genetic diagnosis of IVF embryos: preliminary results from 'preimplantation genetic diagnoses' in the Netherlands]

  • Genetics of male infertility.

  • Molecular genetics of hereditary neuropathies.

  • [Severe male infertility. Genetic investigation and counseling prior to intracytoplasmic sperm injection]

  • Quality of life in Turner syndrome is related to chromosomal constitution: implications for genetic counselling and management.

  • [Molecular genetics of epilepsy: present and future implications in clinical practice]

  • [Trisomy 9p: a clinical picture and the importance of examining the family]

  • Prenatal screening for chromosome abnormalities.

  • International, collaborative assessment of 146,000 prenatal karyotypes: expected limitations if only chromosome-specific probes and fluorescent

  • Genetics and disease.

  • [Gly380Arg and Asn540Lys mutations of fibroblast growth factor receptor 3 in achondroplasia and hypochndroplasia in the Spanish population]

  • [Pathogenetic germ-line mutation in patients with hereditary nonpolyposis colorectal carcinoma (HNPCC)]

  • Clinical genetics: an overview.

  • Hereditary hemorrhagic telangiectasia with juvenile polyposis--coincidence or linked autosomal dominant inheritance?

  • Communicating chromosome rearrangements and their outcomes using simple computer-generated color ideograms.

  • Screening for abnormalities of chromosomes X, Y, and 18 and for diploidy in spermatozoa from infertile men participating in an in vitro

  • [Chromosomal deviations in subfertile men and their partners is often not a reason to refrain from intracytoplasmic sperm injection]

  • Spinal muscular atrophy. Incidence in Iceland.

  • [Revolutionary progress is to be expected when health care will be marked by genetics]

  • Defining the chromosomal basis of mental handicap.

  • Subtle chromosomal rearrangements in children with unexplained mental retardation.

  • [Genetics of male sterility]

  • Indication-specific accuracy of second-trimester genetic ultrasonography for the detection of trisomy 21.

  • The neurobiology of autism.

  • [Strategies for genetic counseling and examination of families with hereditary tumor diseases]

  • Autosomal recessive hydrocephalus due to congenital stenosis of the aqueduct of sylvius.

  • [Chromosome abnormalities in subfertile men and their partners is not a contraindication for intracytoplasmic sperm injection]

  • Clinical and molecular heterogeneity of juvenile nephronophthisis in Italy: insights from molecular screening.

  • [Genetic diseases:recent scientific findings and health and ethical problems]

  • Amniocentesis--too dangerous and too late?

  • The limb-girdle muscular dystrophies: diagnostic guidelines.

  • Molecular cytogenetic analysis and clinical findings in a newborn with prenatally diagnosed rec(7)dup(7q)inv(7)(p22q31.3)pat.

  • Effectiveness of prenatal chromosomal analysis using multicolor fluorescent in situ hybridisation.

  • [Value of genetic diagnosis of C282Y mutation in patients with hereditary hemochromatosis]

  • [Screening for fetal chromosomal anomalies--recent aspects]

  • [Severe male infertility. Genetic investigation and counseling prior to intracytoplasmic sperm injections]

  • [Indications for chromosome and DNA analysis for diagnosis of genetic diseases]

  • White cells 2: impact of understanding the molecular basis of haematological malignant disorders on clinical practice.

  • Comparative genomic hybridization analysis of hepatoblastomas: additional evidence for a genetic link with Wilms tumor and

  • A diagnostic clinical genetic study of craniofacial dysmorphism.

  • Early pregnancy prenatal diagnostic testing: risks associated with chorionic villus sampling and early amniocentesis and screening options.

  • Chromosomal abnormalities: trisomy 18, trisomy 13, deletions, and microdeletions.

  • Individuals with abnormal phenotype and normal G-banding karyotype: improvement and limitations in the diagnosis by the use of 24-colour

  • Is there a place for preimplantation genetic diagnosis screening in recurrent miscarriage patients?

  • Decisions about prenatal testing for chromosomal disorders: perceptions of a diverse group of pregnant women.

  • Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis.

  • [Cooperation between genetic counseling centers, cytogenetic laboratories and in vitro fertilization centers in the treatment of

  • High resolution comparative genomic hybridisation analysis reveals imbalances in dyschromosomal patients with normal or apparently balanced

  • Genetics and male infertility.

  • Neonatal outcome of preimplantation genetic diagnosis by polar body removal: the first 109 infants.

  • Early prenatal diagnosis of the ICF syndrome.

  • [Biochemical screening in the second trimester of pregnancy from a genetic aspect]

  • Identifying autism susceptibility genes.

  • Commercial predictive testing: the desirability of one overseeing body.

  • Leri-Weill syndrome associated with a pseudodicentric X;Y translocation chromosome and skewed X-inactivation: implications for genetic

  • Karyotype of amniotic fluid cells at the AUB-MC results on 2000 cases.

  • [Oculopharyngeal muscle dystrophy. Genetic diagnosis in a family in Germany]

  • The genetic revolution in artificial reproduction: a view of the future.

  • Fetal cells in cervical mucus and maternal blood.

  • One stop clinic for assessment of risk for fetal anomalies: a report of the first year of prospective screening for chromosomal anomalies in the

  • [Microdissection of chromosomes]

  • [Genetics of congenital cardiopathies]

  • [Diagnostic strategies in inherited hemochromatosis. Value of the genetic test]

  • Identification of uniparental disomy following prenatal detection of Robertsonian translocations and isochromosomes.

  • Genetic aspects of miscarriage.

  • New trends in prenatal screening for chromosomal abnormalities.

  • Genetic basis of male fertility.

  • Ultrasonographic markers for chromosomal abnormalities in women with negative nuchal translucency and second trimester maternal serum

  • The long-term effect of external quality assessment on performance in service cytogenetics.

  • Low NAD(P)H:quinone oxidoreductase 1 activity is associated with increased risk of acute leukemia in adults.

  • Heterotaxy: associated conditions and hospital-based prevalence in newborns.

  • Cytogenetic analysis using telemedicine consultation: an improved means of providing expert cross-coverage.

  • Laboratory evaluation of children with autistic spectrum disorders: a guide for primary care pediatricians.

  • Response to varicocelectomy in oligospermic men with and without defined genetic infertility.

  • Detection of fetal erythroid cells from maternal blood using fluorescence in situ hybridization and liquid culture.

  • Outcome in prenatally diagnosed fetal agenesis of the corpus callosum.

  • Decision analysis of prenatal testing for chromosomal disorders: what do the preferences of pregnant women tell us?

  • [Analysis of chromosome instability as a genetic risk factor of laryngeal cancer]

  • Triple marker screening for fetal chromosomal abnormalities in Korean women of advanced maternal age.

  • Genetic counseling after unexpected cytogenetic findings on prenatal diagnosis.

  • Nuchal translucency and the acceptance of invasive prenatal chromosomal diagnosis in women aged 35 and older.

  • Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the

  • [Dysmorphic children]

  • [Detection of submicroscopic chromosome abnormalities by comparative genomic hybridization]

  • Prenatal diagnosis: the medical genetics perspective.

  • The triple screen in prenatal care: not just a simple blood test.

  • The choices women make about prenatal diagnosis.

  • Sociocultural differences in the impact of amniocentesis: an anthropological research report.

  • Ethics and the biology of reproduction.

  • Genetic testing of children.

  • Predictive and carrier testing of children: professional dilemmas for clinical geneticists.

  • Nuclear industry link casts suspicion on gene bank.

  • Genetic counseling for a family with two distinct anomalies: a case report of a neural tube defect and 5p- syndrome in a fetus.

  • Provider gender and moral reasoning: the politics of an "ethics of care.

  • Duty to re-contact: a study of families at risk for Fragile X.

  • The fragile X omen: scientific advances compel a legislative treatment of wrongful life and wrongful birth.

  • A fragile case for screening?

  • Amniocentesis in sociocultural perspective.

  • Question mark hangs over fragile X test in newborns.

  • A threat to disabled persons? On the genetics approach to developmental disabilities.

  • When should an investigator share raw data with the subjects?

  • Improved detection of CFTR mutations in Southern California Hispanic CF patients.

  • Ovarian cancer BRCA1 mutation detection: Protein truncation test (PTT) outperforms single strand conformation polymorphism analysis (SSCP).

  • Oncogenic levels of mitogen-activated protein kinase (MAPK) signaling of the dinucleotide KRAS2 mutations G12F and GG12-13VC.

  • Genotype-phenotype comparison of the Swiss malignant hyperthermia population.

  • Determination of Lewis FUT3 gene mutations by PCR using sequence-specific primers enables efficient genotyping of clinical

  • Screening ABCG1, the human homologue of the Drosophila white gene, for polymorphisms and association with bipolar affective disorder.

  • Reading between the lines: direct-to-consumer advertising of genetic testing in the USA.

  • Awareness of genetic testing for breast cancer risk among women with a family history of breast cancer: effect of women's information sources

  • Parental communication of BRCA1/2 genetic test results to children.

  • p53 mutations are rare events in recurrent cervical cancer.

  • Submerged gel electrophoresis on Spreadex gels--a new method for APC gene mutation detection.

  • Absence of mutations in human ubiquitin fusion-degradation protein gene in tetralogy of Fallot.

  • Method for screening ecdysone-inducible stable cell lines.

  • Risk assessment of first-degree relatives of women with breast cancer: a feasibility study.

  • Screening of selected genomic areas potentially involved in thyroid neoplasms.

  • Psychosocial care in family cancer clinics in The Netherlands: a brief report.

  • Phenol sulphotransferase SULT1A1*1 genotype is associated with reduced risk of colorectal cancer.

  • An unusual melting curve profile in LightCycler multiplex genotyping of the hemochromatosis H63D/C282Y gene mutations.

  • Legal aspects of biomedical issues in Germany.

  • Understanding mathematical models for breast cancer risk assessment and counseling.

  • ALS with variable phenotypes in a six-generation family caused by leu144phe mutation in the SOD1 gene.

  • [Absence of an association between the C825T polymorphism of the G-protein beta 3 subunit and salt-sensitivity in essential arterial

  • Knowledge, attitudes, and interest in breast-ovarian cancer gene testing: a survey of a large African-American kindred with a BRCA1

  • [Screening for Fragile X syndrome mutations during early pregnancy--results and mothers' opinions about the gene test]

  • Reporting BRCA test results to primary care physicians.

  • Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing

  • Ethical concerns relating to the detection and treatment of ovarian cancer.

  • Psychological adjustment to familial-genetic risk assessment for ovarian cancer: pr

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