Published in Prenat Diagn on April 01, 1996
EEA1, an early endosome-associated protein. EEA1 is a conserved alpha-helical peripheral membrane protein flanked by cysteine "fingers" and contains a calmodulin-binding IQ motif. J Biol Chem (1995) 5.45
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. J Med Genet (2009) 3.87
Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function. Nature (1997) 3.27
Trisomy 21: association between reduced recombination and nondisjunction. Am J Hum Genet (1991) 3.08
Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases. Clin Genet (1994) 3.04
Importance of microdeletions of chromosomal region 22q11 as a cause of selected malformations of the ventricular outflow tracts and aortic arch: a three-year prospective study. J Pediatr (1996) 2.50
A cytogenetic study of human spontaneous abortions using banding techniques. Hum Genet (1976) 2.25
The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes. J Med Genet (2005) 1.94
Evaluation of the cytokines interleukin 8 and epithelial neutrophil activating peptide 78 as indicators of inflammation in prostatic secretions. Urology (2000) 1.92
The carbonic anhydrase domain of receptor tyrosine phosphatase beta is a functional ligand for the axonal cell recognition molecule contactin. Cell (1995) 1.91
An imprinted locus associated with transient neonatal diabetes mellitus. Hum Mol Genet (2000) 1.73
A cytogenetic and molecular reappraisal of a series of patients with Turner's syndrome. Ann Hum Genet (1990) 1.71
Further evidence for an imprinted gene for neonatal diabetes localised to chromosome 6q22-q23. Hum Mol Genet (1996) 1.68
Aetiopathology and genetic basis of neonatal diabetes. Arch Dis Child Fetal Neonatal Ed (1997) 1.67
An imprinted gene(s) for diabetes? Nat Genet (1995) 1.65
Array painting: a method for the rapid analysis of aberrant chromosomes using DNA microarrays. J Med Genet (2003) 1.61
Three patients with ring (X) chromosomes and a severe phenotype. J Med Genet (1993) 1.52
Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients. Diabetologia (2013) 1.48
Atypical facio-scapulo-humeral muscular dystrophy--a counselling dilemma. Clin Genet (1991) 1.48
SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions. Br J Ophthalmol (2007) 1.44
Is karyotyping couples experiencing recurrent miscarriage worth the cost? BJOG (2010) 1.43
Molecular cytogenetic analysis of eight inversion duplications of human chromosome 13q that each contain a neocentromere. Am J Hum Genet (2000) 1.42
Familiarisation to and reproducibility of cycling at 110% peak power output. J Sports Med Phys Fitness (2014) 1.39
A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus. Hum Genet (2006) 1.35
Chromosome constitution of 500 infants dying during the perinatal period. With an appendix concerning other genetic disorders among these infants. Humangenetik (1974) 1.35
IL-1beta and TNF-alpha in prostatic secretions are indicators in the evaluation of men with chronic prostatitis. J Urol (2000) 1.31
Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect. J Med Genet (2005) 1.30
Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes. Hum Genet (1997) 1.25
An analphoid supernumerary marker chromosome derived from chromosome 3 ascertained in a fetus with multiple malformations. J Med Genet (2000) 1.24
Epigenotype-phenotype correlations in Silver-Russell syndrome. J Med Genet (2010) 1.24
A balanced de novo X/autosome translocation in a girl with manifestations of Lowe syndrome. Am J Med Genet (1986) 1.22
Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis). J Med Genet (1997) 1.21
Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome. J Med Genet (1997) 1.18
Diaphragmatic herniae and translocations involving 8q22 in two patients. J Med Genet (1994) 1.16
Distal 6p deletion syndrome: a report of a case with anterior chamber eye anomaly and review of published reports. J Med Genet (1998) 1.16
Duplication of 7p12.1-p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome. Hum Genet (1999) 1.16
Nondisjunction of human acrocentric chromosomes: studies of 432 trisomic fetuses and liveborns. Hum Genet (1994) 1.13
Localisation of a gene for transient neonatal diabetes mellitus to an 18.72 cR3000 (approximately 5.4 Mb) interval on chromosome 6q. J Med Genet (1999) 1.13
Measurement of cytochrome P450 gene induction in human hepatocytes using quantitative real-time reverse transcriptase-polymerase chain reaction. Drug Metab Dispos (2000) 1.11
Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1. Cytogenet Genome Res (2009) 1.09
Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers. J Med Genet (2007) 1.08
Molecular and fluorescence in situ hybridization characterization of the breakpoints in 46 large supernumerary marker 15 chromosomes reveals an unexpected level of complexity. Am J Hum Genet (2003) 1.08
Antigen presentation and assembly by mouse I-Ak class II molecules in human APC containing deleted or mutated HLA DM genes. J Immunol (1994) 1.06
A test of the production line hypothesis of mammalian oogenesis. Hum Genet (1991) 1.06
Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome. J Med Genet (2005) 1.06
Complex chromosomal rearrangements. Clin Genet (1981) 1.05
Fight versus flight: physiological basis for temperature-dependent behavioral shifts in lizards. J Exp Biol (2007) 1.03
Centromeric inactivation in a dicentric human Y;21 translocation chromosome. Chromosoma (1997) 1.01
Ley/H: an endothelial-selective, cytokine-inducible, angiogenic mediator. J Immunol (2000) 1.01
Phenotypic effects of balanced X-autosome translocations in females: a retrospective survey of 104 cases reported from UK laboratories. Hum Genet (2001) 1.01
An assessment of pancreatic endocrine function and insulin sensitivity in patients with transient neonatal diabetes in remission. Arch Dis Child Fetal Neonatal Ed (2004) 1.01
Thermal acclimation of locomotor performance in tadpoles and adults of the aquatic frog Xenopus laevis. J Comp Physiol B (2000) 1.00
Genetic and clinical heterogeneity of Stickler syndrome. Am J Med Genet (1991) 0.99
Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus. Hum Genet (2006) 0.99
Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus. Hum Genet (2002) 0.99
Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay. Am J Med Genet A (2010) 0.98
Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome. J Med Genet (2009) 0.98
A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals. Hum Mutat (2001) 0.97
Brachydactyly type B: linkage to chromosome 9q22 and evidence for genetic heterogeneity. Am J Hum Genet (1999) 0.97
Triplication of 15q11-q13 with inv dup(15) in a female with developmental delay. J Med Genet (1998) 0.96
Microtia and short stature: a new syndrome. J Med Genet (1991) 0.96
Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification. J Med Genet (2005) 0.96
Reduction of inflammatory cytokines and prostaglandin E2 by IL-13 gene therapy in rheumatoid arthritis synovium. J Immunol (2000) 0.95
Prenatal mortality of trisomy 21 (Down's syndrome). Lancet (1974) 0.95
Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome. J Med Genet (2003) 0.94
Silicone plastinated pathology specimens and their teaching potential. J Pathol (1990) 0.93
A familial reciprocal translocation between three chromosomes. Humangenetik (1974) 0.92
Characterization of muscarinic receptors in human lens cells by pharmacologic and molecular techniques. Invest Ophthalmol Vis Sci (2000) 0.91
A familial Xp+ chromosome, dup (Xq26.3-->qter). J Med Genet (1995) 0.90
Protelomeric sequences are deleted in cases of short arm inverted duplication of chromosome 8. Am J Med Genet (1994) 0.90
Prevention of spinal neural tube defects in the mouse embryo by growth retardation during neurulation. Development (1988) 0.90
X inactivation analysis in a female with hypomelanosis of Ito associated with a balanced X;17 translocation: evidence for functional disomy of Xp. J Med Genet (1996) 0.89
A three chromosome translocation involving two homologous chromosomes in a trisomic abortus. Clin Genet (1976) 0.89
Maturity onset diabetes of the young (MODY) and early onset Type II diabetes are not caused by loss of imprinting at the transient neonatal diabetes (TNDM) locus. Diabetologia (2001) 0.89
Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation. Eur J Med Genet (2012) 0.88
Paternal uniparental disomy of chromosome 6 and transient neonatal diabetes mellitus. Clin Genet (1998) 0.87
Recurrence of neonatal haemochromatosis in half sibs born of unaffected mothers. J Med Genet (1996) 0.86
Early-onset LBSL: how severe does it get? Neuropediatrics (2012) 0.86
A supernumerary marker chromosome 15 tetrasomic for the Prader-Willi/Angelman syndrome critical region in a patient with a severe phenotype. J Med Genet (2003) 0.86
Treatment with sulfasalazine or sulfapyridine, but not 5-aminosalicyclic acid, inhibits basic fibroblast growth factor-induced endothelial cell chemotaxis. Arthritis Rheum (1999) 0.86
Dilemmas in counselling: the EEC syndrome. J Med Genet (1990) 0.86
Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome. J Med Genet (1995) 0.86
Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes. Diabetologia (2002) 0.86
Male breast cancer, age and sex chromosome aneuploidy. Br J Cancer (2013) 0.85
Neocentromere at 13q32 in one of two stable markers derived from a 13q21 break. Am J Med Genet (1999) 0.85
Unusual presentation of fragile X syndrome. Lancet (1990) 0.85
A probable case of familial Weaver syndrome associated with neoplasia. J Med Genet (1999) 0.84
Mixed gonadal dysgenesis and cell line differentiation. Case presentation and literature review. Clin Genet (1994) 0.84