Recurrent Wiedemann-Beckwith syndrome with inversion of chromosome (11)(p11.2p15.5).

PubWeight™: 0.98‹?› | Rank: Top 15%

🔗 View Article (PMID 1609847)

Published in Am J Med Genet on February 15, 1992

Authors

A M Norman1, A P Read, J Clayton-Smith, T Andrews, D Donnai

Author Affiliations

1: Department of Medical Genetics, St Mary's Hospital, Manchester, England.

Articles by these authors

Possible prevention of neural-tube defects by periconceptional vitamin supplementation. Lancet (1980) 10.23

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet (1997) 6.85

Further experience of vitamin supplementation for prevention of neural tube defect recurrences. Lancet (1983) 4.02

SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nat Genet (1998) 3.82

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature (1992) 3.63

A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity. J Med Genet (1992) 3.63

Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. Nature (2000) 3.61

Apparent prevention of neural tube defects by periconceptional vitamin supplementation. Arch Dis Child (1981) 3.45

The longer term outcome of children born to mothers with epilepsy. J Neurol Neurosurg Psychiatry (2004) 3.41

A clinical study of type 2 neurofibromatosis. Q J Med (1992) 3.23

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. J Med Genet (2005) 3.03

Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. Nat Genet (1999) 3.01

Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nat Genet (1994) 2.99

Apparent prevention of neural tube defects by periconceptional vitamin supplementation. 1981. Int J Epidemiol (2011) 2.68

BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension. Am J Hum Genet (2000) 2.51

Comparison of pregnancy outcome after amniocentesis for previous neural tube defect or raised maternal serum alphafetoprotein. Br J Obstet Gynaecol (1980) 2.50

Incontinentia pigmenti (Bloch-Sulzberger syndrome). J Med Genet (1993) 2.48

Fetal valproate syndrome. J Med Genet (1995) 2.44

A possible human homologue for the mouse mutant disorganisation. J Med Genet (1989) 2.43

Effects of breastfeeding in children of women taking antiepileptic drugs. Neurology (2010) 2.38

Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation. Am J Med Genet (1995) 2.34

Uniparental paternal disomy in Angelman's syndrome. Lancet (1991) 2.26

Autism spectrum disorders following in utero exposure to antiepileptic drugs. Neurology (2008) 2.24

Consanguinity and complex cardiac anomalies with situs ambiguus. Arch Dis Child (1984) 2.21

Frequency and therapeutic implications of "skip metastases" in the neck from squamous carcinoma of the oral tongue. Head Neck (1997) 2.16

Effective strategy for prenatal prediction of Duchenne and Becker muscular dystrophy. Lancet (1987) 2.08

Mutations in CDMP1 cause autosomal dominant brachydactyly type C. Nat Genet (1997) 2.06

Postaxial acrofacial dysostosis (Miller) syndrome. J Med Genet (1987) 2.03

Brachmann-de Lange syndrome. Delineation of the clinical phenotype. Am J Med Genet (1993) 2.00

PAX genes. Curr Opin Genet Dev (1994) 1.92

Guidelines for DNA banking. Report of the Clinical Genetics Society working party on DNA banking. J Med Genet (1989) 1.91

Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. J Med Genet (2006) 1.80

Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract. Proc Natl Acad Sci U S A (1997) 1.78

An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa. Hum Mol Genet (1998) 1.75

Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation. J Med Genet (1999) 1.74

A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy. Ophthalmology (1999) 1.72

A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome. Clin Genet (2008) 1.71

Costello syndrome: two cases with embryonal rhabdomyosarcoma. J Med Genet (1998) 1.70

Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2. Nat Genet (1993) 1.67

Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein. J Med Genet (2001) 1.66

Examination of fetuses after induced abortion for fetal abnormality. BMJ (1990) 1.66

Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype. J Med Genet (1998) 1.65

Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP). Hum Mol Genet (1997) 1.64

A clinical study of type 1 neurofibromatosis in north west England. J Med Genet (1999) 1.62

Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes. Am J Hum Genet (1999) 1.62

A genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counselling. J Med Genet (1992) 1.62

Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19-independent pathway. Hum Mol Genet (1996) 1.57

The mutational spectrum in Waardenburg syndrome. Hum Mol Genet (1995) 1.55

Hypomelanosis of Ito: a manifestation of mosaicism or chimerism. J Med Genet (1988) 1.54

Assisted reproductive therapies and imprinting disorders--a preliminary British survey. Hum Reprod (2005) 1.48

Proteus syndrome: an expanded phenotype. Am J Med Genet (1987) 1.47

Geleophysic dysplasia: a report of three affected boys--prenatal ultrasound does not detect recurrence. Am J Med Genet (1995) 1.46

A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1. Nat Genet (1994) 1.44

Biliary atresia in Kabuki syndrome. Am J Med Genet (2000) 1.43

Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X). Am J Med Genet (1995) 1.42

Elastin: mutational spectrum in supravalvular aortic stenosis. Eur J Hum Genet (2000) 1.40

Floating-Harbor syndrome. J Med Genet (1991) 1.40

Assignment of the locus for Waardenburg syndrome type I to human chromosome 2q37 and possible homology to the Splotch mouse. Am J Hum Genet (1990) 1.37

A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus. Hum Genet (2006) 1.35

Macrocephaly with cutis marmorata, haemangioma and syndactyly--a distinctive overgrowth syndrome. Clin Dysmorphol (1997) 1.33

EYA4, a novel vertebrate gene related to Drosophila eyes absent. Hum Mol Genet (1999) 1.32

Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37. Am J Hum Genet (1995) 1.32

Multiple pterygium syndrome: evolution of the phenotype. J Med Genet (1987) 1.32

Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis. Hum Mol Genet (1997) 1.31

Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome. J Med Genet (2003) 1.31

Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres. J Med Genet (1999) 1.31

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. J Med Genet (2009) 1.31

Cranial hemihypertrophy and neurodevelopmental prognosis. J Med Genet (1990) 1.29

Pregnancy with epilepsy: obstetric and neonatal outcome of a controlled study. Seizure (2009) 1.28

Neural tube defect recurrence after 'partial' vitamin supplementation. J Med Genet (1989) 1.27

Nonmedical costs to patients and their families associated with outpatient chemotherapy. Cancer (1984) 1.26

Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome. J Med Genet (2003) 1.26

Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations. Invest Ophthalmol Vis Sci (2000) 1.26

Fetal valproate syndrome: is there a recognisable phenotype? J Med Genet (1987) 1.25

Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly. Hum Genet (1997) 1.25

Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males. Lancet (2000) 1.24

X linked hydrocephalus and MASA syndrome. J Med Genet (1996) 1.24

De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models. J Med Genet (2002) 1.23

Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis. Hum Mol Genet (1999) 1.22

Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene. Am J Med Genet A (2010) 1.21

The gene for Treacher Collins syndrome maps to the long arm of chromosome 5. Am J Hum Genet (1991) 1.19

Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome. Am J Hum Genet (1993) 1.19

Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome. Am J Hum Genet (2005) 1.18

Monitoring adverse events of low-dose glucocorticoid therapy: EULAR recommendations for clinical trials and daily practice. Ann Rheum Dis (2010) 1.17

Norrie disease resulting from a gene deletion: clinical features and DNA studies. J Med Genet (1988) 1.17

Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis. Hum Genet (1986) 1.17

Stress after amniocentesis for high serum alpha-fetoprotein concentrations. Br Med J (1980) 1.17

Dysmorphic features: an important clue to the diagnosis and severity of fetal anticonvulsant syndromes. Arch Dis Child Fetal Neonatal Ed (2005) 1.17