Published in Am J Hum Genet on September 01, 1995
Genetic considerations in the patient with Turner syndrome--45,X with or without mosaicism. Fertil Steril (2012) 0.93
Incidental prenatal diagnosis of sex chromosome aneuploidies: health, behavior, and fertility. ISRN Obstet Gynecol (2011) 0.86
Prenatal diagnosis of 45,X/46,XX. Am J Hum Genet (1996) 0.79
Physical growth: National Center for Health Statistics percentiles. Am J Clin Nutr (1979) 8.42
Turner syndrome. Endocrinol Metab Clin North Am (1991) 1.75
Pituitary-gonadal relations in infancy. I. Patterns of serum gonadotropin concentrations from birth to four years of age in man and chimpanzee. J Clin Endocrinol Metab (1975) 1.54
The phenotype of 45,X/46,XY mosaicism: an analysis of 92 prenatally diagnosed cases. Am J Hum Genet (1990) 1.35
Monosomy X: a chromosomal anomaly associated with young maternal age. Lancet (1980) 1.22
Correlation of luteinizing hormone-releasing factor-induced luteinizing hormone and follicle-stimulating hormone release from infancy to 19 years with the changing pattern of gonadotropin secretion in agonadal patients: relation to the restraint of puberty. J Clin Endocrinol Metab (1980) 1.06
Prenatal diagnosis of 45,X/46,XY mosaicism--a review and update. Prenat Diagn (1989) 1.05
Serum gonadotropin in concentrations in agonadal children and adults. J Clin Endocrinol Metab (1972) 1.04
45,X/46,XY mosaicism: contrast of prenatal and postnatal diagnosis. Am J Med Genet (1988) 0.97
Chromosome mosaicism in 6,000 amniocenteses. Am J Med Genet (1989) 0.96
Prenatal diagnosis of 45,X/46,XX mosaicism in the fetus. Should the pregnancy be terminated? Prenat Diagn (1989) 0.92
The sex-determining region of the human Y chromosome encodes a finger protein. Cell (1987) 4.43
Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1. J Med Genet (2006) 2.97
Evaluation of a protocol for post-mortem examination of stillbirths. N Engl J Med (1983) 2.01
A keratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling-Meara: implications for diagnosis. J Invest Dermatol (1993) 1.64
Clinical variability within Brachmann-de Lange syndrome: a proposed classification system. Am J Med Genet (1993) 1.59
NF1 microdeletion breakpoints are clustered at flanking repetitive sequences. Hum Mol Genet (2000) 1.53
Rhizomelic chondrodysplasia punctata and survival beyond one year: a review of the literature and five case reports. Clin Genet (1990) 1.47
Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1. Am J Hum Genet (1998) 1.44
Cimetidine therapy for multiple viral warts in children. J Am Acad Dermatol (1996) 1.43
Additional deletion in sex-determining region of human Y chromosome resolves paradox of X,t(Y;22) female. Nature (1990) 1.33
Clinical and ultrastructural heterogeneity of type IV Ehlers-Danlos syndrome. Hum Genet (1979) 1.31
Heterogeneity in harlequin ichthyosis, an inborn error of epidermal keratinization: variable morphology and structural protein expression and a defect in lamellar granules. J Invest Dermatol (1990) 1.23
The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome. J Med Genet (2001) 1.21
Reconstructing hominid Y evolution: X-homologous block, created by X-Y transposition, was disrupted by Yp inversion through LINE-LINE recombination. Hum Mol Genet (1998) 1.19
Ichthyosis vulgaris: identification of a defect in synthesis of filaggrin correlated with an absence of keratohyaline granules. J Invest Dermatol (1985) 1.14
Suspected skeletal dysplasias: femur length to abdominal circumference ratio can be used in ultrasonographic prediction of fetal outcome. Am J Obstet Gynecol (1997) 1.11
Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes. Hum Genet (1992) 1.09
Variable expression in a dominantly inherited skeletal dysplasia with similarities to brachydactyly E and spondyloepiphyseal-spondyloperipheral dysplasia. Clin Genet (1979) 1.07
Evaluating a unique, specialist psychiatric genetic counseling clinic: uptake and impact. Clin Genet (2014) 1.06
Severe skin erosions and scalp infections in AEC syndrome. Pediatr Dermatol (1993) 1.02
Aplasia cutis congenita: a report of 12 new families and review of the literature. Pediatr Dermatol (1985) 1.01
Intra-epidermal retention of type VII collagen in a patient with recessive dystrophic epidermolysis bullosa. J Invest Dermatol (1990) 0.98
Phenotypic effects of mosaicism for a 47,XXX cell line in Turner syndrome. J Med Genet (2002) 0.95
Defective integrin alpha 6 beta 4 expression in the skin of patients with junctional epidermolysis bullosa and pyloric atresia. J Invest Dermatol (1996) 0.95
Williams syndrome in adults. Am J Med Genet (1992) 0.94
Incontinentia pigmenti. Semin Cutan Med Surg (1997) 0.94
Epidermolytic hyperkeratosis: ultrastructure and biochemistry of skin and amniotic fluid cells from two affected fetuses and a newborn infant. J Invest Dermatol (1983) 0.94
Idiopathic extrahepatic biliary atresia: recurrence in sibs in two families. Am J Med Genet (1988) 0.92
Outcome after surgical repair of junctional epidermolysis bullosa-pyloric atresia syndrome: a report of 3 cases and review of the literature. Arch Dermatol (1999) 0.91
Expression of a truncated keratin 5 may contribute to severe palmar--plantar hyperkeratosis in epidermolysis bullosa simplex patients. J Invest Dermatol (2001) 0.89
Holt-Oram syndrome: penetrance of the gene and lack of maternal effect. Clin Genet (1982) 0.89
A new variant of trichothiodystrophy with recurrent infections, failure to thrive, and death. Pediatr Dermatol (1998) 0.88
Primers for exon-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients. J Invest Dermatol (1997) 0.88
Prenatal diagnosis and screening. Dermatol Clin (1987) 0.87
Lymphedema as a postulated cause of cutis verticis gyrata in Turner syndrome. Pediatr Dermatol (1998) 0.86
Keratinocytes cultured from subjects with ichthyosis vulgaris are phenotypically abnormal. J Invest Dermatol (1987) 0.86
Prevalence of hypopigmented macules in a healthy population. J Pediatr (1996) 0.85
Rapp-Hodgkin ectodermal dysplasia. J Pediatr (1987) 0.83
Adult height in Turner syndrome with and without androgen therapy. J Pediatr (1984) 0.83
19p13.2 microduplication causes a Sotos syndrome-like phenotype and alters gene expression. Clin Genet (2011) 0.82
Hypospadias in British Columbia. Am J Med Genet (1985) 0.81
Gonadal tumors in disorders of sexual differentiation. Urology (1994) 0.81
Psychosocial adjustment of adult women with Turner syndrome. Clin Genet (1986) 0.81
Inheritance of tuberous sclerosis. Lancet (1979) 0.81
Incontinentia pigmenti nomenclature. Am J Hum Genet (1994) 0.81
Hereditary hypotrichosis and localized morphea: a new clinical entity. Pediatr Dermatol (1986) 0.81
Complete androgen insensitivity due to mutations in the probable alpha-helical segments of the DNA-binding domain in the human androgen receptor. Hum Mol Genet (1994) 0.80
A common keratin 5 gene mutation in epidermolysis bullosa simplex--Weber-Cockayne. J Invest Dermatol (1995) 0.80
Prenatal diagnosis of apparently isolated unilateral multicystic kidney: implications for counselling and management. Prenat Diagn (2002) 0.80
Association of annular pancreas and duodenal obstruction--evidence for Mendelian inheritance? Clin Genet (1991) 0.80
Prenatal detection of epidermolysis bullosa letalis with pyloric atresia in a fetus by abnormal ultrasound and elevated alpha-fetoprotein. Am J Med Genet (1993) 0.80
Lymphocyte capping in carriers of Duchenne muscular dystrophy. N Engl J Med (1979) 0.79
Fetal neuropathology of proliferative vasculopathy and hydranencephaly-hydrocephaly with multiple limb pterygia. Pediatr Neurosci (1988) 0.79
Prenatally detected trisomy 20 mosaicism. Prenat Diagn (2005) 0.79
Chorionic villus sampling: analysis of fetal losses to delivery, placental pathology, and cervical microbiology. Prenat Diagn (1991) 0.78
Unsuspected trisomy 18: a case for an examination protocol in stillborn infants. Am J Obstet Gynecol (1981) 0.78
Linkage analysis of 26 Canadian breast and breast-ovarian cancer families. Hum Genet (1995) 0.78
Measurement of body fat in Turner syndrome. Clin Genet (1986) 0.78
Isodicentric Yp: prenatal diagnosis and outcome in 12 cases. Prenat Diagn (2006) 0.78
Psychosocial and sexual functioning in women with Turner syndrome. Clin Genet (1995) 0.78
Renal involvement in hereditary multiple osteolysis. Lancet (1979) 0.77
Congenital monocytic leukemia: report of a case with cutaneous involvement, and review of the literature. Pediatr Dermatol (1989) 0.77
Epidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function. Am J Hum Genet (1995) 0.77
Children of incest. J Pediatr (1982) 0.77
Hypomelanosis of Ito in a girl with plexus papilloma and translocation (X;17) Hum Genet (1994) 0.77
Cutaneous and extracutaneous neutrophilic infiltrates (Sweet syndrome) in three patients with Fanconi anemia. J Pediatr (1989) 0.76
CCMG statement on direct-to-consumer genetic testing. Clin Genet (2011) 0.76
Spontaneous abortion and pregnancy outcome after normal first-trimester ultrasound examination. Obstet Gynecol (1986) 0.76
A keratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling-Meara: implications for diagnosis. J Invest Dermatol (1994) 0.75
Development of melanocytic nevi in children. Arch Dermatol (1997) 0.75
Pseudotumour cerebri and the Turner syndrome. J Neurol Neurosurg Psychiatry (1985) 0.75
Further case of Galloway-Mowat syndrome of abnormal gyral patterns and glomerulopathy. Am J Med Genet (1997) 0.75
Re: True agonadism: report of a case analyzed with Y-specific DNA probes. Am J Med Genet (1995) 0.75
Is cyproheptadine effective in the treatment of subjects with epidermolysis bullosa simplex-Dowling-Meara? Arch Dermatol (1997) 0.75
A case revisited: recent presentation of incontinentia pigmenti in association with a previously reported X; autosome translocation. Am J Med Genet (1998) 0.75
Generalized epidermolysis bullosa with congenital synechiae-associated malformations and unusual ultrastructure: a new entity? Dermatology (1992) 0.75
Congenital nevi: the controversy rages on. Arch Dermatol (1986) 0.75
Genetic principles applied to skin disease. Curr Probl Dermatol (1987) 0.75
Lymphocyte capping in limb-girdle muscular dystrophy. Am J Med Genet (1983) 0.75
Prenatal diagnosis of non-ketotic hyperglycinemia. Prenat Diagn (1986) 0.75
Sperm chromosome analysis in a man heterozygous for a reciprocal translocation 46,XY t(12;20)(q24.3;q11). Hum Reprod (1990) 0.75
Developmental delay, growth deficiency, congenital heart defect, and multiple craniofacial anomalies. J Clin Dysmorphol (1983) 0.75
Controversy in genetic disorders. Arch Dermatol (1981) 0.75
Molecular cytogenetic investigation of two patients with Y chromosome rearrangements and intellectual disability. Am J Med Genet A (2009) 0.75
Lymphocyte capping and carrier detection in Duchenne muscular dystrophy. Lancet (1979) 0.75
CCMG statement on gene patents. Clin Genet (2012) 0.75
Congenital abnormalities of the skin: future directions. Birth Defects Orig Artic Ser (1981) 0.75
Molecular genetics in pediatric dermatology. Curr Opin Pediatr (2000) 0.75
Transmission of the fra(X) haplotype from three nonpenetrant brothers to their affected grandsons. Am J Med Genet (1992) 0.75
Dicentric Y chromosome and mixed dysgenesis. J Urol (1988) 0.75
Pheochromocytomas in von Hippel-Lindau disease. AJR Am J Roentgenol (1978) 0.75
Pregnancy and postnatal outcome of mosaic isochromosome 20q. Prenat Diagn (2007) 0.75
Congenital scalp defects with distal limb anomalies (Adams-Oliver syndrome-McKusick 10030): further suggestion of autosomal recessive inheritance. Am J Med Genet (1989) 0.75