Published in Am J Med Genet on October 16, 1996
Prader-Willi syndrome. J Med Genet (1997) 1.52
Maladaptive behaviors and risk factors among the genetic subtypes of Prader-Willi syndrome. Am J Med Genet A (2005) 1.04
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Clinical and genetic features of Prader-Willi syndrome in China. Eur J Pediatr (2013) 0.78
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Notatin: an anti-bacterial glucose-aerodehydrogenase from Penicillium notatum Westling and Penicillium resticulosum sp. nov. Biochem J (1945) 7.65
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet (1997) 6.85
HLA and insulin gene associations with IDDM. Genet Epidemiol (1989) 6.53
The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nat Genet (1995) 5.83
Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region. Nat Genet (1994) 4.04
Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. Nat Genet (1997) 3.91
A novel ETV6-NTRK3 gene fusion in congenital fibrosarcoma. Nat Genet (1998) 3.41
A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs. Am J Med Genet (1978) 3.20
Hallux duplication, postaxial polydactyly, absence of the corpus callosum, severe mental retardation, and additional anomalies in two unrelated patients: a new syndrome. Am J Med Genet (1980) 3.18
Genetic heterogeneity, modes of inheritance, and risk estimates for a joint study of Caucasians with insulin-dependent diabetes mellitus. Am J Hum Genet (1988) 2.88
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. Nat Genet (1994) 2.85
GATA3 haplo-insufficiency causes human HDR syndrome. Nature (2000) 2.73
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. Nat Genet (1999) 2.57
The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971. Am J Med Genet (1983) 2.53
Telomeres: a diagnosis at the end of the chromosomes. J Med Genet (2003) 2.52
A chromosomal deletion map of human malformations. Am J Hum Genet (1998) 2.50
Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13. Hum Genet (1992) 2.41
Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation. Am J Med Genet (1995) 2.34
The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women. Am J Hum Genet (1997) 2.28
Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients. Am J Hum Genet (1991) 2.25
Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I. Nat Genet (2000) 2.23
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients. J Med Genet (2007) 2.21
Characterization of the supernumerary chromosome in cat eye syndrome. Science (1986) 2.19
Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: report of three patients. Am J Med Genet (1997) 2.17
Molecular genetic approach to the characterization of the "Down syndrome region" of chromosome 21. Genomics (1989) 2.16
Evidence for multi-site closure of the neural tube in humans. Am J Med Genet (1993) 2.16
A chromosomal duplication map of malformations: regions of suspected haplo- and triplolethality--and tolerance of segmental aneuploidy--in humans. Am J Hum Genet (1999) 2.15
Decreased placental methylation at the H19/IGF2 imprinting control region is associated with normotensive intrauterine growth restriction but not preeclampsia. Placenta (2010) 2.09
A gene for hereditary multiple exostoses maps to chromosome 19p. Hum Mol Genet (1994) 2.00
Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS). J Med Genet (2000) 2.00
Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis. Am J Hum Genet (1998) 1.87
Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion. Eur J Hum Genet (2000) 1.85
Clinical and molecular analysis of five inv dup(15) patients. Eur J Hum Genet (1993) 1.82
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. Am J Hum Genet (2000) 1.80
Dandy-Walker(like) malformation, atrio-ventricular septal defect and a similar pattern of minor anomalies in 2 sisters: a new syndrome? Am J Med Genet (1987) 1.80
Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes. Am J Hum Genet (1994) 1.79
Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients. Am J Hum Genet (1995) 1.78
Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype? Am J Med Genet (1994) 1.76
First-trimester prenatal diagnosis for Huntington's disease with DNA probes. Lancet (1987) 1.70
Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21. Genomics (1997) 1.70
Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH. Am J Med Genet A (2005) 1.68
Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation. Hum Mol Genet (1995) 1.65
Genetic linkage of Wagner disease and erosive vitreoretinopathy to chromosome 5q13-14. Arch Ophthalmol (1995) 1.62
Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. Am J Hum Genet (2000) 1.61
Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations. Hum Mol Genet (1997) 1.60
Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region. Nat Genet (1992) 1.57
Maternal uniparental disomy of chromosome 1 with no apparent phenotypic effects. Am J Hum Genet (1998) 1.57
Maternal uniparental disomy 7--review and further delineation of the phenotype. Eur J Pediatr (2000) 1.56
Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes. J Med Genet (2008) 1.56
The acrocallosal syndrome in sisters. Clin Genet (1986) 1.55
Cytogenetic analysis of miscarriages from couples with recurrent miscarriage: a case-control study. Hum Reprod (2002) 1.55
Terminal deletion, del(1)(p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes. Am J Med Genet (1999) 1.51
Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome. Hum Mol Genet (1996) 1.50
A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews. Hum Mutat (2001) 1.50
Bilateral spastic cerebral palsy--a collaborative study between southwest Germany and western Sweden. III: Aetiology. Dev Med Child Neurol (1995) 1.50
Detection of small RB1 gene deletions in retinoblastoma by multiplex PCR and high-resolution gel electrophoresis. Hum Genet (1992) 1.49
Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients. Hum Mol Genet (1993) 1.49
Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B. Am J Hum Genet (2000) 1.48
A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15. Hum Mol Genet (2001) 1.44
Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism. Am J Med Genet (1982) 1.43
Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome. Am J Med Genet (1996) 1.43
Intrachromosomal triplication of 15q11-q13. J Med Genet (1994) 1.43
A single-nucleotide polymorphism in the RAD51 gene modifies breast cancer risk in BRCA2 carriers, but not in BRCA1 carriers or noncarriers. Br J Cancer (2004) 1.41
Absent cavum with intact septum pellucidum and corpus callosum may indicate midline brain abnormalities. Ultrasound Obstet Gynecol (2013) 1.41
The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome. Am J Hum Genet (1999) 1.41
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. Clin Genet (2007) 1.41
Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4. Nat Genet (1992) 1.41
The Van der Woude syndrome (dominantly inherited lip pits and clefts). J Med Genet (1986) 1.40
Molecular genetic analysis of the 3p- syndrome. Hum Mol Genet (1994) 1.40
Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome. Hum Mol Genet (1999) 1.40
A polymorphic DNA marker that represents a conserved expressed sequence in the region of the Huntington disease gene. Am J Hum Genet (1988) 1.39
Phenotype of maternal UPD(14) Am J Med Genet (1996) 1.38
The dynamics of X-inactivation skewing as women age. Clin Genet (2004) 1.37
Nondisjunction of chromosome 15: origin and recombination. Am J Hum Genet (1993) 1.34
The mechanisms involved in formation of deletions and duplications of 15q11-q13. J Med Genet (1998) 1.33
Uniparental disomy for chromosome 16 in humans. Am J Hum Genet (1993) 1.33
Parental origin of triploidy in human fetuses: evidence for genomic imprinting. Hum Genet (1993) 1.32
Cloning and characterization of Dlk, a novel serine/threonine kinase that is tightly associated with chromatin and phosphorylates core histones. Oncogene (1998) 1.32
Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population. Am J Hum Genet (1992) 1.32
Bilateral spastic cerebral palsy--MRI pathology and origin. Analysis from a representative series of 56 cases. Dev Med Child Neurol (1995) 1.30
The velo-cardio-facial (Shprintzen) syndrome. Clinical variability in eight patients. Eur J Pediatr (1986) 1.30
Evaluating DNA methylation and gene expression variability in the human term placenta. Placenta (2010) 1.30
Peritoneal inclusion cysts with mural mesothelial proliferation. A clinicopathological analysis of six cases. Am J Surg Pathol (1986) 1.29
Phenotype of triploid embryos. J Med Genet (2005) 1.27
CAG and GGC repeat polymorphisms in the androgen receptor gene and breast cancer susceptibility in BRCA1/2 carriers and non-carriers. Br J Cancer (2001) 1.27
European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities. Eur J Med Genet (2005) 1.26
Multiplex-FISH for pre- and postnatal diagnostic applications. Am J Hum Genet (1999) 1.25
Clinical and genetic heterogeneity in Meckel syndrome. Hum Genet (1997) 1.24
The causes and consequences of random and non-random X chromosome inactivation in humans. Clin Genet (2000) 1.24
A randomised pilot study to assess the efficacy of an interactive, multimedia tool of cognitive stimulation in Alzheimer's disease. J Neurol Neurosurg Psychiatry (2006) 1.24
Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation. J Med Genet (2007) 1.23
A common region of 10p deleted in DiGeorge and velocardiofacial syndromes. Nat Genet (1996) 1.21