Published in Am J Med Genet on March 01, 1990
Phenotypic variability and genetic susceptibility to genomic disorders. Hum Mol Genet (2010) 2.57
Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene. Am J Hum Genet (1996) 2.41
Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). Am J Hum Genet (1991) 2.26
Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients. Am J Hum Genet (1991) 2.25
Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations. Am J Hum Genet (1997) 1.81
Localization of the gene encoding the GABAA receptor beta 3 subunit to the Angelman/Prader-Willi region of human chromosome 15. Am J Hum Genet (1991) 1.62
UBE3A Regulates Synaptic Plasticity and Learning and Memory by Controlling SK2 Channel Endocytosis. Cell Rep (2015) 1.52
Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy. Am J Hum Genet (1992) 1.50
Molecular analysis of the 18q- syndrome--and correlation with phenotype. Am J Hum Genet (1993) 1.40
Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders. J Med Genet (1993) 1.37
Paternal origin of the chromosomal deletion resulting in Wolf-Hirschhorn syndrome. J Med Genet (1991) 1.15
A candidate model for Angelman syndrome in the mouse. Mamm Genome (1997) 1.12
Ampakines promote spine actin polymerization, long-term potentiation, and learning in a mouse model of Angelman syndrome. Neurobiol Dis (2012) 1.08
Comparison of high resolution cytogenetics, fluorescence in situ hybridisation, and DNA studies to validate the diagnosis of Prader-Willi and Angelman's syndromes. Arch Dis Child (1995) 1.08
Pathway-specific dopaminergic deficits in a mouse model of Angelman syndrome. J Clin Invest (2012) 0.97
Genomic imprinting: mechanism and role in human pathology. Am J Pathol (1994) 0.97
High-resolution mapping of the gamma-aminobutyric acid receptor subunit beta 3 and alpha 5 gene cluster on chromosome 15q11-q13, and localization of breakpoints in two Angelman syndrome patients. Am J Hum Genet (1993) 0.96
Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3. Am J Hum Genet (1997) 0.92
Allele-specific replication of 15q11-q13 loci: a diagnostic test for detection of uniparental disomy. Am J Hum Genet (1996) 0.88
Molecular mechanisms in Angelman syndrome: a survey of 93 patients. J Med Genet (1993) 0.85
Neuronal chromatin dynamics of imprinting in development and disease. J Cell Biochem (2011) 0.82
Angelman syndrome with a chromosomal inversion 15 inv(p11q13) accompanied by a deletion in 15q11q13. J Med Genet (1992) 0.81
A clinical, cytogenetic, and molecular study of 40 adults with the Prader-Willi syndrome. J Med Genet (1995) 0.79
A boy with developmental delay and a maternally inherited deletion in 15q11q13. J Med Genet (1996) 0.75
On the genetic imprinting suggested in Angelman syndrome. Am J Med Genet (1991) 0.75
Novel neurobiological roles of UBE3A. Oncotarget (2017) 0.75
Dating the origin of the CCR5-Delta32 AIDS-resistance allele by the coalescence of haplotypes. Am J Hum Genet (1998) 5.24
Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. Nat Genet (1997) 4.86
Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N Engl J Med (1998) 4.34
Jewish and Middle Eastern non-Jewish populations share a common pool of Y-chromosome biallelic haplotypes. Proc Natl Acad Sci U S A (2000) 3.10
Shortened telomeres in clonally expanded CD28-CD8+ T cells imply a replicative history that is distinct from their CD28+CD8+ counterparts. J Immunol (1996) 3.03
The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals is approximately 1%. Nat Genet (1996) 2.82
Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism. Am J Hum Genet (1989) 2.57
Evidence for multiple origins of the beta E-globin gene in Southeast Asia. Proc Natl Acad Sci U S A (1982) 2.24
Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. Am J Hum Genet (1999) 2.19
Molecular genetic approach to the characterization of the "Down syndrome region" of chromosome 21. Genomics (1989) 2.16
TbetaR-I(6A) is a candidate tumor susceptibility allele. Cancer Res (1999) 1.99
Abnormal RNA processing due to the exon mutation of beta E-globin gene. Nature (1982) 1.98
Juvenile rheumatoid arthritis in velo-cardio-facial syndrome: coincidence or unusual complication? Am J Med Genet (1996) 1.83
A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes. Genomics (1992) 1.82
All patients with the T(11;16)(q23;p13.3) that involves MLL and CBP have treatment-related hematologic disorders. Blood (1997) 1.71
Distinct phenotypes distinguish the molecular classes of Angelman syndrome. J Med Genet (2001) 1.71
Cytogenetic and molecular analysis in Angelman syndrome. Am J Med Genet (1993) 1.58
Survey of psychotherapy with black men. Am J Psychiatry (1982) 1.58
Inverted repeats are necessary for circularization of the mouse testis Sry transcript. Gene (1995) 1.56
Problems in diagnosing schizophrenia and affective disorders among blacks. Hosp Community Psychiatry (1986) 1.56
Angelman syndrome in a daughter with del(15) (q11q13) associated with brachycephaly, hearing loss, enlarged foramen magnum, and ataxia in the mother. Am J Med Genet (1989) 1.50
Effect of opposite changes in cardiac output and arterial PO2 on the relationship between mixed venous PO2 and oxygen transport. Am Rev Respir Dis (1989) 1.43
Anticipating unfair uses of genetic information. Am J Hum Genet (1993) 1.39
Acro-renal-ocular syndrome: expansion of the phenotype. Clin Dysmorphol (1998) 1.38
Evaluation of right-heart catheterization in the critically ill patient without acute myocardial infarction. N Engl J Med (1983) 1.37
Carrier screening for cystic fibrosis, Gaucher disease, and Tay-Sachs disease in the Ashkenazi Jewish population: the first 1000 cases at New York University Medical Center, New York, NY. Arch Intern Med (1998) 1.37
Human larynx injected with Teflon paste. Histological study of innervation and tissue reaction. Arch Otolaryngol (1967) 1.36
Malnutrition and hypernatremic dehydration in breast-fed infants. JAMA (1982) 1.25
Expression of steroidogenic factor 1 and Wilms' tumour 1 during early human gonadal development and sex determination. Mech Dev (1999) 1.24
Variable expression of rib, pectus, and scapular anomalies with Robin-type cleft palate in a 5-generation family: a new syndrome? Am J Med Genet (1997) 1.23
Physiologic effects of bronchopulmonary lavage in alveolar proteinosis. Am Rev Respir Dis (1978) 1.22
Dominant transmission of a previously unidentified 13/17 translocation in a five-generation family with Robin cleft and other skeletal defects. Am J Med Genet (2001) 1.22
Sry is a transcriptional activator. Mol Endocrinol (1994) 1.18
Light and heavy chain components of gamma globulins in urines of normal persons and patients with agammaglobulinemia. J Clin Invest (1967) 1.18
Mutation of a conserved cysteine in the X-linked cone opsins causes color vision deficiencies by disrupting protein folding and stability. Invest Ophthalmol Vis Sci (1997) 1.17
Incidence of 15q deletions in the Angelman syndrome: a survey of twelve affected persons. Am J Med Genet (1989) 1.17
Acute and long-term ventilatory effects of hyperoxia in the adult sleep apnea syndrome. Am Rev Respir Dis (1982) 1.13
A study of restriction fragment length polymorphisms at the human alpha-1-antitrypsin locus. Hum Genet (1985) 1.11
Angelman syndrome. Curr Probl Pediatr (1995) 1.09
Black and white psychiatrists: therapy with blacks. J Natl Med Assoc (1985) 1.07
Failure of ciprofloxacin to eradicate Campylobacter pylori from the stomach. J Antimicrob Chemother (1988) 1.06
Nonapneic mechanisms of arterial oxygen desaturation during rapid-eye-movement sleep. J Appl Physiol Respir Environ Exerc Physiol (1983) 1.06
Asymmetric orbital-lattice interactions in ultrathin correlated oxide films. Phys Rev Lett (2011) 1.06
Similarities and differences in black men and women in psychotherapy. J Natl Med Assoc (1984) 1.05
Reversal of glycogen storage disease type IIIa-related cardiomyopathy with modification of diet. J Inherit Metab Dis (2009) 1.05
Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion. Am J Med Genet (1993) 1.04
Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype. Hum Genet (1997) 1.04
Clinical review 111: familial sex reversal: a review. J Clin Endocrinol Metab (2000) 1.02
A family with a grand-maternally derived interstitial duplication of proximal 15q. Clin Genet (2001) 1.02
Identification of a yeast artificial chromosome clone spanning a translocation breakpoint at 7q32.1 in a Smith-Lemli-Opitz syndrome patient. Am J Hum Genet (1995) 0.99
SRY, SOX9, and DAX1 expression patterns during human sex determination and gonadal development. Mech Dev (2000) 0.99
Benefits and dangers of genetic tests. Nature (1998) 0.98
Intracordal polytef (Teflon) injection. Histologic study of three further cases. Arch Otolaryngol (1970) 0.98
The impact of Converso Jews on the genomes of modern Latin Americans. Hum Genet (2011) 0.98
delta- and beta-Crystallin mRNA levels in the embryonic and posthatched chicken lens: temporal and spatial changes during development. Dev Biol (1985) 0.98
Lack of X inactivation associated with maternal X isodisomy: evidence for a counting mechanism prior to X inactivation during human embryogenesis. Am J Hum Genet (1996) 0.97
Genetic variants in SOD2, MPO, and NQO1, and risk of ovarian cancer. Gynecol Oncol (2004) 0.97
Response of the perfused carotid body to changes in pH and PCO2. Respir Physiol (1968) 0.97
Consensus in chronic ankle instability: aetiology, assessment, surgical indications and place for arthroscopy. Orthop Traumatol Surg Res (2013) 0.97
The genetics of mitral valve prolapse. Clin Genet (2007) 0.97
Smith-Lemli-Opitz syndrome in a female with a de novo, balanced translocation involving 7q32: probable disruption of an SLOS gene. Am J Med Genet (1994) 0.96
Manic-depressive illness among poor urban blacks. Am J Psychiatry (1981) 0.96
Investigation of an outbreak of infection with Acinetobacter calcoaceticus in a special care baby unit. J Hosp Infect (1986) 0.95
Telegenetic medicine: improved access to services in an underserved area. J Telemed Telecare (2006) 0.95
Mendelian diseases among Roman Jews: implications for the origins of disease alleles. J Clin Endocrinol Metab (1999) 0.95
Culture of cytogenetically abnormal schwann cells from benign and malignant NF1 tumors. Genes Chromosomes Cancer (2000) 0.95
Cytochemical localization of catalase and peroxidase in sinusoidal cells of rat liver. Lab Invest (1976) 0.95
Diagnosing Pneumocystis carinii pneumonia by cytological examination of bronchoalveolar lavage fluid: report of 15 cases. J Clin Pathol (1986) 0.94
Will the new cytogenetics replace the old cytogenetics? Clin Genet (2004) 0.94
The rate of approach to equilibrium in uncatalyzed CO2 hydration reactions: the theoretical effect of buffering capacity. Respir Physiol (1971) 0.91
Prevalence of Canavan disease heterozygotes in the New York metropolitan Ashkenazi Jewish population. Am J Hum Genet (1995) 0.90
Single-copy flanking sequences in human histone gene clusters map to chromosomes 1 and 6. Genomics (1991) 0.89
Prevalence of 22q11 region deletions in patients with velopharyngeal insufficiency. Am J Med Genet (1998) 0.89
Beta-crystallin mRNAs: differential distribution in the developing chicken lens. Dev Biol (1981) 0.89
Preaxial acrofacial dysostosis (Nager syndrome) associated with an inherited and apparently balanced X;9 translocation: prenatal and postnatal late replication studies. Am J Med Genet (1993) 0.88
Y chromosome mosaicism in 45,X Turner syndrome. Am J Med Genet (1989) 0.88
Genetic screening by insurance carriers. JAMA (1992) 0.87
Conservation of human Y chromosome sequences among male great apes: implications for the evolution of Y chromosomes. J Mol Evol (1994) 0.87
Cytogenetic survey for autistic fragile X carriers in a mental retardation center. Am J Ment Retard (1990) 0.87
Gliosarcoma with chromosome abnormalities in a neonate exposed to heptachlor. Neurosurgery (1987) 0.86
Larynx injected with polytef paste. Arch Otolaryngol (1976) 0.86
Mapping a gene for 46,XY gonadal dysgenesis by linkage analysis. Clin Genet (2003) 0.86
Effect of atelectasis and embolization on extravascular thermal volume of the lung. J Appl Physiol Respir Environ Exerc Physiol (1982) 0.85
Zhang-Rice physics and anomalous copper states in A-site ordered perovskites. Sci Rep (2013) 0.85
Effect of PEEP and type of injury on thermal-dye estimation of pulmonary edema. J Appl Physiol (1985) (1986) 0.85
A non-sex chromosome marker in a patient with an atypical Ullrich-Turner phenotype and mosaicism of 46,X,mar/46,XX. Clin Genet (2001) 0.85
Role of pulmonary edema in the acute pulmonary response to sepsis. J Appl Physiol Respir Environ Exerc Physiol (1981) 0.85
High cognitive functioning and behavioral phenotype in Pallister-Killian syndrome. Am J Med Genet A (2006) 0.84
Tuberculosis of the middle ear. Arch Otolaryngol (1967) 0.84
Clinical, cytogenetic, and molecular evaluation of a patient with partial trisomy 21 (21q11-q22) lacking the classical Down syndrome phenotype. Am J Med Genet Suppl (1990) 0.83
Relationship of autoimmunity to thyroid dysfunction in children and adults with Down syndrome. Am J Med Genet Suppl (1990) 0.83