A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome.

PubWeight™: 1.71‹?› | Rank: Top 3%

🔗 View Article (PMID 18798845)

Published in Clin Genet on September 16, 2008

Authors

R Day1, B Beckett, D Donnai, A Fryer, M Heidenblad, P Howard, B Kerr, S Mansour, U Maye, S McKee, S Mohammed, E Sweeney, M Tassabehji, B B A de Vries, J Clayton-Smith

Author Affiliations

1: Cheshire and Merseyside Genetics Service, Royal Liverpool Children's Hospital, Alder Hey, Liverpool, UK. drruth_day@yahoo.co.uk

Articles by these authors

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature (1994) 7.30

Optimal assessment and management of chronic obstructive pulmonary disease (COPD). The European Respiratory Society Task Force. Eur Respir J (1995) 7.03

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

Campylobacter pylori and recurrence of duodenal ulcers--a 12-month follow-up study. Lancet (1987) 4.32

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

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

Metabolic gene polymorphism frequencies in control populations. Cancer Epidemiol Biomarkers Prev (2001) 3.43

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

A microsatellite linkage map of rainbow trout (Oncorhynchus mykiss) characterized by large sex-specific differences in recombination rates. Genetics (2000) 2.98

Epidemiology of tuberous sclerosis. Ann N Y Acad Sci (1991) 2.96

The retinoic acid-metabolizing enzyme, CYP26A1, is essential for normal hindbrain patterning, vertebral identity, and development of posterior structures. Genes Dev (2001) 2.74

Smith-Fineman-Myers syndrome in two brothers. Am J Med Genet (1991) 2.70

Chromosomal breakage-fusion-bridge events cause genetic intratumor heterogeneity. Proc Natl Acad Sci U S A (2000) 2.61

Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis. Hum Mol Genet (2001) 2.56

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

High-resolution genome-wide array-based comparative genome hybridization reveals cryptic chromosome changes in AML and MDS cases with trisomy 8 as the sole cytogenetic aberration. Leukemia (2006) 2.45

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

Comparison of outcome measures for patients with chronic obstructive pulmonary disease (COPD) in an outpatient setting. Thorax (1997) 2.32

Fetal valproate syndrome and autism: additional evidence of an association. Dev Med Child Neurol (2001) 2.32

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

An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. Am J Hum Genet (2006) 2.23

Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27. Hum Mol Genet (1998) 2.16

Causes of death in patients with COPD and chronic respiratory failure. Monaldi Arch Chest Dis (1997) 2.15

Controlled oxygen therapy and pulmonary heart failure. Thorax (1971) 2.11

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. J Med Genet (2008) 2.09

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

BVD virus genotype 2 detected in British cattle. Vet Rec (2002) 2.05

Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA). J Med Genet (2004) 2.04

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

Evolution of the ventilatory capacity in chronic bronchitis. Br Med J (1967) 2.03

Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome. Nat Genet (2000) 2.03

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

The potential of health sector non-governmental organizations: policy options. Health Policy Plan (1994) 1.98

Nail patella syndrome: a review of the phenotype aided by developmental biology. J Med Genet (2003) 1.95

Decreased food intake is a risk factor for mortality in hospitalised patients: the NutritionDay survey 2006. Clin Nutr (2009) 1.94

Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24. J Med Genet (2002) 1.91

Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion. Nat Genet (1994) 1.91

Exploring Williams-Beuren syndrome using myGrid. Bioinformatics (2004) 1.90

Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain. Nat Genet (1997) 1.88

The C2 domain of the ubiquitin protein ligase Nedd4 mediates Ca2+-dependent plasma membrane localization. J Biol Chem (1997) 1.85

A neutrophil disorder induced by capnocytophaga, a dental micro-organism. N Engl J Med (1979) 1.84

Causes and outcome of young infant admissions to a Kenyan district hospital. Arch Dis Child (2003) 1.81

Clinical experience with the oxygen concentrator. Br Med J (Clin Res Ed) (1983) 1.80

Outcome of low vision aid provision: the effectiveness of a low vision clinic. Optom Vis Sci (1994) 1.80

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

Meier-Gorlin syndrome: report of eight additional cases and review. Am J Med Genet (2001) 1.76

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

The impact of medication resistance and continuation pharmacotherapy on relapse following response to electroconvulsive therapy in major depression. J Clin Psychopharmacol (1990) 1.71

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

Triamcinolone in corticosteroid-resistant asthma. Br J Dis Chest (1979) 1.68

Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal. Am J Hum Genet (1995) 1.67

Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1). Clin Genet (2004) 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

Cryptosporidium, enterocytozoon, and cyclospora infections in pediatric and adult patients with diarrhea in Tanzania. Clin Infect Dis (1999) 1.64

Paternal origin of new mutations in von Recklinghausen neurofibromatosis. Nature (1990) 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

Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome. J Med Genet (2005) 1.60

Cognitive spatial processing and the regulation of posture. J Exp Psychol Hum Percept Perform (1985) 1.58

Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair. Cardiology (2008) 1.57

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

Uterine electromyography: a critical review. Am J Obstet Gynecol (1993) 1.55

Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B. Nat Genet (2000) 1.55

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

HIV-1 protease processes procaspase 8 to cause mitochondrial release of cytochrome c, caspase cleavage and nuclear fragmentation. Cell Death Differ (2002) 1.54

Effects of electrode placement on the efficacy of titrated, low-dose ECT. Am J Psychiatry (1987) 1.51

Pulmonary rehabilitation in chronic obstructive pulmonary disease (COPD) with recommendations for its use. Report of the European Respiratory Society Rehabilitation and Chronic Care Scientific Group (S.E.P.C.R. Rehabilitation Working Group) Eur Respir J (1992) 1.49

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

Long term domiciliary oxygen therapy in chronic obstructive pulmonary disease. Thorax (1993) 1.47

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

Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly. Clin Genet (2011) 1.46

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

Twelve year clinical study of patients with hypoxic cor pulmonale given long term domiciliary oxygen therapy. Thorax (1987) 1.44

Heparin therapy for pregnant women with lupus anticoagulant or anticardiolipin antibodies. Obstet Gynecol (1990) 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

Abnormal expression of wild type p53 protein in normal cells of a cancer family patient. Lancet (1992) 1.41

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

Patient selection and techniques for home mechanical ventilation. European Respiratory Society Rehabilitation and Chronic Care Scientific Group. Monaldi Arch Chest Dis (1993) 1.40

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

Predictors of clinical hypomagnesemia. Hypokalemia, hypophosphatemia, hyponatremia, and hypocalcemia. Arch Intern Med (1984) 1.40