Published in Clin Genet on October 01, 1994
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Three patients with ring (X) chromosomes and a severe phenotype. J Med Genet (1993) 1.52
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Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes. Hum Genet (1997) 1.25
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An analphoid supernumerary marker chromosome derived from chromosome 3 ascertained in a fetus with multiple malformations. J Med Genet (2000) 1.24
Evaluation of terminology used to describe disorders of sex development. J Pediatr Urol (2010) 1.22
A balanced de novo X/autosome translocation in a girl with manifestations of Lowe syndrome. Am J Med Genet (1986) 1.22
The MACE procedure: experience in the United Kingdom. J Pediatr Surg (1999) 1.22
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The use of a dorsal buccal mucosal graft with urethral plate incision (Snodgrass) for hypospadias salvage. BJU Int (1999) 1.13
Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1. Cytogenet Genome Res (2009) 1.09
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Buried penis. A novel approach. Br J Urol (1990) 0.96
Triplication of 15q11-q13 with inv dup(15) in a female with developmental delay. J Med Genet (1998) 0.96
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A familial reciprocal translocation between three chromosomes. Humangenetik (1974) 0.92
Treatment of neuropathic urinary and faecal incontinence with synchronous bladder reconstruction and the antegrade continence enema procedure. Br J Urol (1995) 0.92
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A familial Xp+ chromosome, dup (Xq26.3-->qter). J Med Genet (1995) 0.90
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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
Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation. Eur J Med Genet (2012) 0.88
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
Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome. J Med Genet (1995) 0.86
Consistent numerical chromosome aberrations in congenital fibrosarcoma. Cancer Genet Cytogenet (1993) 0.86
Transthoracic electrocoagulation (T.T.E.C.)--a new and simple approach to upper limb sympathectomy. Ir Med J (1982) 0.86
The surgical treatment of upper limb hyperhidrosis. Br J Dermatol (1986) 0.86
Male breast cancer, age and sex chromosome aneuploidy. Br J Cancer (2013) 0.85
Male duplex urinary incontinence. J Urol (1995) 0.85
Neocentromere at 13q32 in one of two stable markers derived from a 13q21 break. Am J Med Genet (1999) 0.85
Aberrant thymus: a misleading mediastinal mass. J Pediatr Surg (1987) 0.84
Diversion colitis in children with colovaginoplasty. BJU Int (2001) 0.83
Heavy drinking in early adulthood and outcomes at mid life. J Epidemiol Community Health (2010) 0.83
Day-case ligation of patent ductus arteriosus in premature infants. J Pediatr Surg (1987) 0.83
Intrachromosomal triplication of distal 7p. J Med Genet (1998) 0.83
Transversely tubularized ileal segments for the Mitrofanoff or Malone antegrade colonic enema procedures: the Monti principle. Br J Urol (1998) 0.83
An investigation of ring and dicentric chromosomes found in three Turner's syndrome patients using DNA analysis and in situ hybridisation with X and Y chromosome specific probes. J Med Genet (1991) 0.82
Meiotic crossing over exchange in the female mouse visualised by BUdR substitution. Nature (1979) 0.82
Investigation of a cryptic interstitial duplication involving the Prader-Willi/Angelman syndrome critical region. Hum Genet (1999) 0.81
The value of videourodynamics in the investigation of neurologically normal children who wet. Br J Urol (1993) 0.81
Isolated sacral agenesis in a fetus monosomic for 7q36.1-->qter. J Med Genet (1997) 0.81
A search for uniparental disomy in carriers of supernumerary marker chromosomes. Eur J Hum Genet (1995) 0.81
How to achieve a successful Malone antegrade continence enema. J Pediatr Surg (1998) 0.81
The effect of short-chain fatty acids butyrate, propionate, and acetate on urothelial cell kinetics in vitro: potential therapy in augmentation cystoplasty. Pediatr Surg Int (2005) 0.80
A molecular and FISH analysis of structurally abnormal Y chromosomes in patients with Turner syndrome. J Med Genet (1999) 0.80
FISH characterisation of dynamic mosaicism involving an inv dup(15) in a patient with mental retardation. Am J Med Genet (2001) 0.80
Endoscopic thoracic sympathectomy in the treatment of upper limb hyperhidrosis. Ann R Coll Surg Engl (1986) 0.80
Meiosis in trisomic female mice with Robertsonian translocations. I. Prophase pairing. Cytogenet Cell Genet (1989) 0.79
Urinary tract candidiasis in neonates and infants. Br J Urol (1995) 0.79
Molecular investigation of a dicentric 13;17 chromosome found in a 21-week gestation fetus with multiple congenital abnormalities. Cytogenet Genome Res (2006) 0.79
Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins. Am J Med Genet A (2005) 0.79
Fluorescence in situ hybridisation studies provide evidence for somatic mosaicism in de novo dystrophin gene deletions. Hum Genet (1995) 0.79
Synchronous bladder reconstruction and antegrade continence enema. J Urol (2001) 0.78
A case of maternal uniparental disomy of chromosome 9 in association with confined placental mosaicism for trisomy 9. Prenat Diagn (1996) 0.78
Rapid in situ harvesting and cytogenetic analysis of perinatal tissue samples. Prenat Diagn (1996) 0.78
Wilms' tumour and hypertension: incidence and outcome. Br J Urol (1995) 0.78
Modification of therapy based on videourodynamics in neurologically normal children: Southampton 1988-1993. Br J Urol (1995) 0.77
The Pippi Salle urethral lengthening procedure; experience and outcome from three United Kingdom centres. BJU Int (1999) 0.76
Pseudodominant inheritance of spastic ataxia of Charlevoix-Saguenay. Neurology (2010) 0.76
Clinical outcomes of adjacent 1 segregation in a familial translocation t(8;18)(p21.3;p11.23). J Med Genet (1996) 0.75
A balanced whole arm reciprocal translocation resulting in three different adverse pregnancy outcomes. J Med Genet (1993) 0.75
Cytogenetics 40 years on. J Clin Pathol (1996) 0.75
An experimental single layer colonic anastomosis. Ir J Med Sci (1985) 0.75
Detection of minimal residual disease in childhood acute lymphoblastic leukaemia using fluorescence in-situ hybridization. Br J Haematol (1995) 0.75
Spontaneous hypospadias fistula in a 12 year old. Br J Urol (1996) 0.75
Telomeric translocations are uncommon. Genet Couns (1995) 0.75
Further case of trisomy 18 mosaicism with a mild phenotype. Am J Med Genet (1995) 0.75
Modification of therapy based on videourodynamics in neurologically normal children: Southampton 1988-1993. Br J Urol (1996) 0.75
Combined free autologous bladder mucosa/skin tube for urethral reconstruction: an update. Br J Urol (1988) 0.75
48,XYY,+13 karyotype in a liveborn infant. Clin Genet (1980) 0.75
Gonadal mosaicism 45,X/46,X,psu dic(Y)(q11.2) resulting in a Turner phenotype with mixed gonadal dysgenesis. Singapore Med J (2008) 0.75