Trisomy 8 syndrome.

Chromosome abnormalities and the genetics of congenital corneal opacification. Mol Vis (2011) 1.04

Corneal opacities--a diagnostic feature of the trisomy 8 mosaic syndrome. Br J Ophthalmol (1983) 0.80

Localization of a gene for familial patella aplasia-hypoplasia (PTLAH) to chromosome 17q21-22. Am J Hum Genet (1999) 0.79

Partial trisomy 8 (trisomy 8q2106 leads to 8qter). J Med Genet (1977) 0.75

A corneal abnormality associated with trisomy 8 mosaicism syndrome. Br J Ophthalmol (1987) 0.75

Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics (1993) 4.86

A new genetic concept: uniparental disomy and its potential effect, isodisomy. Am J Med Genet (1980) 4.22

Population genetic studies of retinitis pigmentosa. Am J Hum Genet (1980) 3.51

Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. Am J Hum Genet (2000) 3.48

Updating McKusick: an educational exercise for medical students. Am J Med Genet (1986) 3.47

Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints. Am J Hum Genet (1999) 2.71

The spatial variation of membrane potential near a small source of current in a spherical cell. J Gen Physiol (1970) 2.70

Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis. Hum Mol Genet (1995) 2.68

Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. J Med Genet (2003) 2.52

Genetic epidemiological studies of early-onset deafness in the U.S. school-age population. Am J Med Genet (1993) 2.48

The physician's responsibility toward hopelessly ill patients. N Engl J Med (1984) 2.46

The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. Pediatrics (2001) 2.37

Genetic factors in determining bone mass. J Clin Invest (1973) 2.35

Comparison of high resolution chromosome banding and fluorescence in situ hybridization (FISH) for the laboratory evaluation of Prader-Willi syndrome and Angelman syndrome. Am J Med Genet (1994) 2.30

A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment. J Med Genet (2005) 2.11

Proceedings: A more uniform measurement of factor VIII inhibitors. Thromb Diath Haemorrh (1975) 2.10

American College of Medical Genetics statement of diagnostic testing for uniparental disomy. Genet Med (2001) 1.86

The need for anonymous genetic counseling and testing. Am J Hum Genet (1996) 1.79

Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype? Am J Med Genet (1994) 1.76

SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. J Med Genet (2005) 1.71

Predicting zygosity in Norwegian twin pairs born 1915-1960. Clin Genet (1983) 1.68

Genetic models for the analysis of data from the families of identical twins. Genetics (1976) 1.67

Smoking education in children: UK trials of an international project. Int J Health Educ (1978) 1.66

Chromosome 7p--syndrome: craniosynostosis with preservation of region 7p2. Am J Med Genet (1991) 1.66

Effects of artificial micro- and nano-structured surfaces on cell behaviour. Ann Anat (2008) 1.66

Physical features of Prader-Willi syndrome in neonates. Am J Dis Child (1990) 1.61

Pycnodysostosis, with a familial chromosome anomaly. Am J Med (1966) 1.60

Dermatoglyphic nomogram for the diagnosis of Down's syndrome. J Pediatr (1970) 1.56

Myelocystocele-cloacal exstrophy in a pedigree with a mitochondrial 12S rRNA mutation, aminoglycoside-induced deafness, pigmentary disturbances, and spinal anomalies. Teratology (2000) 1.54

Systemic membrane defect in the proximal muscular dystrophies. N Engl J Med (1978) 1.52

Breaking Abbe's diffraction resolution limit in fluorescence microscopy with stimulated emission depletion beams of various shapes. Phys Rev E Stat Nonlin Soft Matter Phys (2001) 1.52

II. Recent innovations in human genetics education: The curricularization of McKusick. Am J Hum Genet (1987) 1.49

The interpretation of current-voltage relations recorded from a spherical cell with a single microelectrode. Biophys J (1972) 1.49

Education policy and the heritability of educational attainment. Nature (1985) 1.48

Preimplantation genetic testing for Huntington disease and certain other dominantly inherited disorders. Clin Genet (1996) 1.46

The mammalian homologues of frog Bv8 are mainly expressed in spermatocytes. FEBS Lett (1999) 1.41

Investigation of the correlation potential from Kohn-Sham perturbation theory. Phys Rev Lett (2001) 1.39

Prader-Willi syndrome. Curr Probl Pediatr (1984) 1.39

Mechanisms of ring chromosome formation in 11 cases of human ring chromosome 21. Am J Hum Genet (1992) 1.38

Extended triple intrathecal chemotherapy trial for prevention of CNS relapse in good-risk and poor-risk patients with B-progenitor acute lymphoblastic leukemia: a Pediatric Oncology Group study. J Clin Oncol (1993) 1.36

Nutritional significance of fructose and sugar alcohols. Annu Rev Nutr (1981) 1.34

Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome. Am J Hum Genet (1997) 1.33

A genetic study of anodontia in X-linked hypohidrotic ectodermal dysplasia. Am J Hum Genet (1980) 1.31

Congenital X-linked cataract, dental anomalies and brachymetacarpalia. Birth Defects Orig Artic Ser (1974) 1.30

[Angiography findings following myocardial infarct in young females: the role of oral contraceptives]. Herz (1987) 1.30

Attitudes of deaf and hard of hearing subjects towards genetic testing and prenatal diagnosis of hearing loss. J Med Genet (2002) 1.28

Familial branchio-oto-renal dysplasia: a new addition to the branchial arch syndromes. Clin Genet (1976) 1.28

Genetic Control of Hemoglobin Synthesis. Science (1963) 1.27

Effects of chorion type on variation in cord blood cholesterol of monozygotic twins. Am J Hum Genet (1976) 1.26

Dynamics of bone marrow-derived endothelial progenitor cell/mesenchymal stem cell interaction in co-culture and its implications in angiogenesis. Biochem Biophys Res Commun (2010) 1.24

Prader-Willi syndrome. Am J Psychiatry (1998) 1.24

Clinical heterogeneity in 80 home-reared children with cri du chat syndrome. J Pediatr (1983) 1.24

Autosomal recessive oculocutaneous albinism in man. Evidence for genetic heterogeneity. Am J Hum Genet (1970) 1.23

Deletion 10q23.2-q23.33 in a patient with gastrointestinal juvenile polyposis and other features of a Cowden-like syndrome. Genes Chromosomes Cancer (1998) 1.22

Spondylocostal dysostosis associated with anal and urogenital anomalies in a Mennonite sibship. Am J Med Genet (1981) 1.21

Molecular mechanism of angelman syndrome in two large families involves an imprinting mutation. Am J Hum Genet (1999) 1.21

Phenotypic variation in the popliteal pterygium syndrome. Clin Genet (1973) 1.21

Apparent cri-du-chat and "antimongolism" in one patient. Lancet (1966) 1.20

Arteriohepatic dysplasia (Alagille syndrome): extreme variability among affected family members. Am J Med Genet (1984) 1.20

Genetic counseling for the hearing impaired. Audiology (1972) 1.20

Genetic alterations of c-myc, c-erbB-2, and c-Ha-ras protooncogenes and clinical associations in human breast carcinomas. Cancer Res (1989) 1.19

Marfan syndrome with contractural arachnodactyly and severe mitral regurgitation in a premature infant. J Pediatr (1978) 1.18

Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness. J Med Genet (2001) 1.17

Cisplatin in recurrent pediatric brain tumors. A POG Phase II study. A Pediatric Oncology Group Study. Cancer (1985) 1.17

Family studies in tuberous sclerosis. evaluation of apparently unaffected parents. JAMA (1983) 1.17

X-linked mixed deafness with congenital fixation of the stapedial footplate and perilymphatic gusher. Birth Defects Orig Artic Ser (1971) 1.15

Mutation in the mitochondrial 12S rRNA gene in two families from Mongolia with matrilineal aminoglycoside ototoxicity. J Med Genet (1997) 1.15

Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss. Hum Mol Genet (2000) 1.15

Nutritional parameters in children with cancer. J Am Diet Assoc (1983) 1.14

Orientation of loci within the human major histocompatibility complex by chromosomal in situ hybridization. Proc Natl Acad Sci U S A (1984) 1.14

Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen. Hum Genet (1986) 1.14

Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia. Am J Hum Genet (1999) 1.14

Interaction between prognostic factors and treatment. Control Clin Trials (1983) 1.14

Human blood pressure and the ABO blood group system: an apparent association. Hum Biol (1965) 1.14

Linkage studies in a large kindred with hereditary pancreatitis confirms mapping of the gene to a 16-cM region on 7q. Genomics (1996) 1.14

Methylphenidate therapy for aggression in a man with ring 22 chromosome. Report and literature review. Arch Neurol (1985) 1.12

Obsessions and compulsions in Prader-Willi syndrome. J Child Psychol Psychiatry (1996) 1.11

Isoforms of Bet v 1, the major birch pollen allergen, analyzed by liquid chromatography, mass spectrometry, and cDNA cloning. J Biol Chem (1995) 1.10

Jarcho-Levin syndrome: unusual survival in a classical case. Am J Med Genet (1994) 1.09

Gonadal dysgenesis and ulcerative colitis. A case report with clinical, cytogenetic, and post-mortem studies. J Med Genet (1966) 1.08

Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness. Hum Mol Genet (2001) 1.08

Is there an embryo-fetal exogenous sex steroid exposure syndrome (EFESSES)? Fertil Steril (1979) 1.07

Cellular bicarbonate protects rat duodenal mucosa from acid-induced injury. J Clin Invest (2001) 1.07

Femoral duplication: a case report. Am J Med Genet (1989) 1.07

Bivariate genetic analysis of left ventricular mass and weight in pubertal twins (the Medical College of Virginia twin study). Am J Cardiol (1991) 1.07

Prenatal detection of a familial nuchal bleb simulating encephalocele. Birth Defects Orig Artic Ser (1979) 1.07

Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation. Am J Med Genet (1997) 1.07

Parental determinants of birth weight. Clin Genet (1984) 1.06

Trigonocephaly and the 11q- syndrome. Ann Genet (1977) 1.05

Maladaptive behavior differences in Prader-Willi syndrome due to paternal deletion versus maternal uniparental disomy. Am J Ment Retard (1999) 1.05

Quantitative studies of glucose-6-phosphate dehydrogenase. Am J Hum Genet (1977) 1.05

Hydrolethalus syndrome: report of an apparent mild case, literature review, and differential diagnosis. Am J Med Genet (1987) 1.05

Human spasmolytic polypeptide decreases proton permeation through gastric mucus in vivo and in vitro. Am J Physiol (1997) 1.04

Clinical findings in four children with biotinidase deficiency detected through a statewide neonatal screening program. N Engl J Med (1985) 1.03

Symposium on sensorineural hearing loss in children: early detection and intervention. Genetic factors in deafness of early life. Otolaryngol Clin North Am (1975) 1.03