Published in Hum Genet on February 01, 1989
Sex reversal in a child with a 46,X,Yp+ karyotype: support for the existence of a gene(s), located in distal Xp, involved in testis formation. J Med Genet (1992) 1.12
A complex rearrangement associated with sex reversal and the Wolf-Hirschhorn syndrome: a cytogenetic and molecular study. J Med Genet (1992) 0.96
Hypomelanosis of Ito and X;autosome translocations: a unifying hypothesis. J Med Genet (1996) 0.85
Testis determining gene(s) on the X chromosome short arm: chromosomal localisation and possible role in testis determination. J Med Genet (1994) 0.81
Partial disomy of Xp and the presence of SRY in a phenotypic female. J Med Genet (1995) 0.79
A duplication of distal Xp associated with hypogonadotrophic hypogonadism, hypoplastic external genitalia, mental retardation, and multiple congenital abnormalities. J Med Genet (1996) 0.77
Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis. Int J Endocrinol (2012) 0.75
X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy. Nat Genet (2001) 10.92
Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. Cell (1994) 7.39
Evolution from fish to mammals by gene duplication. Hereditas (1968) 3.95
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nat Genet (1998) 2.72
[Deficiency on the short arms of a chromosome No. 4]. Humangenetik (1965) 2.46
Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome. J Med Genet (1993) 1.81
Dosimetry of the cone beam computed tomography Veraviewepocs 3D compared with the 3D Accuitomo in different fields of view. Dentomaxillofac Radiol (2008) 1.63
Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations. Hum Mol Genet (1997) 1.60
[Monitoring multiple cardiovascular paramaters using telemedicine in patients with chronic heart failure]. Herzschrittmacherther Elektrophysiol (2005) 1.48
Mapping the human ZFX locus to Xp21.3 by in situ hybridization. Hum Genet (1989) 1.48
Establishment, characterization and fibre outgrowth of isolated bovine adrenal medullary cells in long-term cultures. Neuroscience (1980) 1.48
Identification of two novel proteins that interact with germ-cell-specific RNA-binding proteins DAZ and DAZL1. Genomics (2000) 1.46
Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9. Hum Genet (1996) 1.43
Spontaneous resolution of cystic hygroma in a 46,XX normal female. Prenat Diagn (1990) 1.40
Caveolin-3 directly interacts with the C-terminal tail of beta -dystroglycan. Identification of a central WW-like domain within caveolin family members. J Biol Chem (2000) 1.39
[Crying cat syndrome with translocation 5/D 2]. Humangenetik (1966) 1.35
Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1. Nat Genet (1993) 1.33
Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation. J Med Genet (2001) 1.26
Detection of fast neuronal signals in the motor cortex from functional near infrared spectroscopy measurements using independent component analysis. Med Biol Eng Comput (2004) 1.23
Centromere repositioning in mammals. Heredity (Edinb) (2011) 1.18
Genetic polymorphism of lactate dehydrogenase isoenzymes in the carp (Cyprinus carpio) apparently due to a "null allele". Biochem Genet (1973) 1.12
Restriction site mapping of adenovirus type 8 genome types. Res Virol (1991) 1.12
Overrepresentation of 3q and 8q material and loss of 18q material are recurrent findings in advanced human ovarian cancer. Genes Chromosomes Cancer (1996) 1.10
[Chromosome aberrations in human lymphocytes in cases of chronic arsenic poisoning]. Dtsch Med Wochenschr (1970) 1.10
[On the topic: longitudinal courses of human palmar ridges]. Humangenetik (1964) 1.10
Study of local cerebral hemodynamics by frequency-domain near-infrared spectroscopy and correlation with simultaneously acquired functional magnetic resonance imaging. Opt Express (2001) 1.09
Natural course of subclinical hypothyroidism in Down's syndrome: prospective study results and therapeutic considerations. J Endocrinol Invest (1995) 1.08
Chromosome banding and DNA replication patterns in bird karyotypes. Cytogenet Cell Genet (1989) 1.07
Study on segregation and risk for abnormal offspring in carriers of pericentric inversion of the (p11 leads to q13) segment of chromosome 2. Clin Genet (1980) 1.07
Familiarity, objectivity--and misconduct. Counterstatement to Shaw DM. The Swiss Report on homoeopathy: a case study of research misconduct. Swiss Med Wkly. 2012;142:w13594. Swiss Med Wkly (2013) 1.05
Cytologic evidence for three human X-chromosomal segments escaping inactivation. Hum Genet (1983) 1.03
[The mechanism of diploidization in vertebrate evolution: coexistence of tetrasomic and disomic gene loci for the isocitrate dehydrogenases in trout (salmo irideus)]. Humangenetik (1970) 1.03
Chromosomal localization of the carcinoembryonic antigen gene family and differential expression in various tumors. Cancer Res (1988) 1.03
Terminal deletion of the short arm of chromosome 5. Clin Genet (1988) 1.03
Studies on the function of H-Y antigen: dissociation and reorganization experiments on rat gonadal tissue. Cytogenet Cell Genet (1978) 1.02
A new case of trisomy for the short arm of No. 9 chromosome. J Med Genet (1973) 1.02
Partial trisomy 9 : clinical and cytogenetic correlations. Ann Genet (1979) 1.01
Report of the Third International Workshop on Y Chromosome Mapping 1997. Heidelberg, Germany, April 13-16, 1997. Cytogenet Cell Genet (1997) 1.01
A gene controlling H-Y antigen on the X chromosome. Tentative assignment by deletion mapping to Xp223. Hum Genet (1980) 0.98
Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. Neurology (2000) 0.98
Partial deletion of the short arm of chromosome 12(p11; p13). Report of a case. Ann Genet (1975) 0.97
XY gonadal dysgenesis and the H-Y antigen. Report on 12 cases. Hum Genet (1979) 0.95
Mapping chromosomal homology between humans and the black-handed spider monkey by fluorescence in situ hybridization. Chromosome Res (1997) 0.94
Ring chromosome 21 in phenotypically apparently normal persons: report of two families from Switzerland and Italy. Am J Med Genet (1983) 0.94
The X linked recessive form of XY gonadal dysgenesis with a high incidence of gonadal germ cell tumours: clinical and genetic studies. J Med Genet (1983) 0.94
Mosaicism for the full mutation and a microdeletion involving the CGG repeat and flanking sequences in the FMR1 gene in eight fragile X patients. Am J Med Genet (1999) 0.93
[Familial translocation t(6; 18) (q16; q16; q23) with free 21 trisomy]. Ann Genet (1974) 0.93
The human pregnancy-specific glycoprotein genes are tightly linked on the long arm of chromosome 19 and are coordinately expressed. Biochem Biophys Res Commun (1990) 0.91
Localization of Y chromosome sequences and X chromosomal replication studies in XX males. Hum Genet (1989) 0.91
Sex-reversed XY females with campomelic dysplasia are H-Y negative. Hum Genet (1981) 0.91
[Localization of the gene of the glyceraldehyde 3 phosphate dehydrogenase on the distal segment of the short arm of the chromosome 12]. Ann Genet (1976) 0.90
[Chromosome mosaicism C-trisomy/normal]. Humangenetik (1965) 0.90
Chromosome banding in Amphibia. VI. BrdU-replication patterns in anura and demonstration of XX/XY sex chromosomes in Rana esculenta. Chromosoma (1981) 0.90
Frequency of abnormal karyotypes in relation to the ascertainment method in females referred for suspected sex chromosome abnormality. Clin Genet (1984) 0.89
Induction of immune tolerance to human type I collagen in patients with systemic sclerosis by oral administration of bovine type I collagen. Arthritis Rheum (2000) 0.89
Lack of evidence for association of meiotic nondisjunction with particular DNA haplotypes on chromosome 21. Proc Natl Acad Sci U S A (1988) 0.89
Structural variation of the monoamine oxidase A gene promoter repeat polymorphism in nonhuman primates. Genes Brain Behav (2006) 0.89
Familial supravalvular aortic stenosis: a genetic study. J Med Genet (1989) 0.89
Effects of low dose radiation therapy on adjuvant induced arthritis in rats. Int J Radiat Biol (2000) 0.88
[47,XX,18+-46,XX-45,XX,18- mosaicism in a child with Edward's syndrome]. Ann Genet (1971) 0.88
Deletion on long arm of a chromosome 18 (46, XX, 18 q-). Humangenetik (1967) 0.88
[The effects of thioguanine, hydroxylamine and 5-bromodeoxyuridine on human chromosomes in vitro]. Mutat Res (1967) 0.87
Mapping of a locus for a familial autosomal recessive idiopathic myoclonic epilepsy of infancy to chromosome 16p13. Am J Hum Genet (2000) 0.87
Depth dose-equivalent and effective energies of photoneutrons generated by 6-18 MV X-ray beams for radiotherapy. Health Phys (2001) 0.86
Lack of efficacy of oral bovine type II collagen added to existing therapy in rheumatoid arthritis. Arthritis Rheum (1999) 0.86
Thoracic disc herniation: a diagnostic challenge. Man Ther (2000) 0.86
Bone mineral status during and after therapy of childhood cancer: an increasing population with multiple risk factors for impaired bone health. J Bone Miner Res (1999) 0.86
Simian Y chromosomes: species-specific rearrangements of DAZ, RBM, and TSPY versus contiguity of PAR and SRY. Mamm Genome (1998) 0.86
Transitional hemizygosity of the maternally derived allele at the 6PGD locus during early development of the cyprinid fish Rutilus rutilus. Biochem Genet (1970) 0.86
[Gene duplication by polyploid evolution: the isoenzyme of the sorbitol dehydrogenase in herring- and salmon-like fishes (Isospondyli)]. Humangenetik (1970) 0.86
Genes located in and near the human pseudoautosomal region are located in the X-Y pairing region in dog and sheep. Chromosome Res (1997) 0.85
Polyploidization in the fish family Cyprinidae, order Cypriniformes. I. DNA-content and chromosome sets in various species of Cyprinidae. Humangenetik (1969) 0.85
Heterogeneity of pericentric inversions of the human y chromosome. Cytogenet Genome Res (2011) 0.85
[Familial 2-C translocation: 46,XYt(2p-;Cp+) and 46,XXCp+]. Humangenetik (1969) 0.85
Familial infantile myoclonic epilepsy: clinical features in a large kindred with autosomal recessive inheritance. Epilepsia (2001) 0.85
Delineation of syndromes due to partial 6q imbalances. Trisomy 6q21 leads to qter and monosomy 6q221 leads to qter in two unrelated patients. Acta Genet Med Gemellol (Roma) (1978) 0.85
XY gonadal dysgenesis: aberrant testicular differentiation in the presence of H-Y antigen. Obstet Gynecol (1981) 0.85
Study on segregation of the inversion of chromosome 4 (p15.2q11) in two unrelated families. Hum Genet (1982) 0.85
Testosterone and bone loss in Klinefelter syndrome. Horm Metab Res (1983) 0.85
Decrease of DNA synthesis in amniotic fluid cells during the middle part of S-phase revealed by differential chromosome staining after incorporation of BrdU. Chromosoma (1978) 0.84
Scleroderma and the watermelon stomach. Ann Rheum Dis (1996) 0.84
Trisomy 22 in a newborn with multiple malformations. Hum Genet (1987) 0.84
[Chromosome mosaic with 2 aneuploid stem lines in the tissue culture of a patient with multiple abnormalities]. Helv Paediatr Acta (1966) 0.84
[Clinical and genetic studies of a patient with crying cat syndrome]. Dtsch Med Wochenschr (1965) 0.84
Satellited Y chromosomes: structure, origin, and clinical significance. Hum Genet (1984) 0.84
Loss of the Y chromosomal PAR2-region in four familial cases of satellited Y chromosomes (Yqs). Chromosome Res (2001) 0.84
Chromosome banding in Amphibia. IX. The polyploid karyotypes of Odontophrynus americanus and Ceratophrys ornata (Anura, Leptodactylidae). Chromosoma (1985) 0.84
[Fear Avoidance Beliefs and physical function in elderly individuals with chronic low back pain]. Schmerz (2006) 0.84
Studies on the genetic polymorphism of lactate dehydrogenase B (phenotype B - ) in rodent erythrocytes. Biochem Genet (1972) 0.83
Chromosome painting shows that the proboscis monkey (Nasalis larvatus) has a derived karyotype and is phylogenetically nested within Asian Colobines. Am J Primatol (2003) 0.83
Comparative mapping of Xp22 genes in hominoids--evolutionary linear instability of their Y homologues. Chromosome Res (1997) 0.83
No evidence of a major locus for benign familial infantile convulsions on chromosome 19q12-q13.1. Epilepsia (1999) 0.83