Published in Hum Genet on January 01, 1980
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
Dysgerminoma in a female with turner syndrome and Y chromosome material: A case-based review of literature. Indian J Endocrinol Metab (2012) 0.76
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
Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements. Am J Hum Genet (2001) 3.57
Phosphorylation switches specific for the cardiac isoform of myosin binding protein-C: a modulator of cardiac contraction? EMBO J (1995) 3.28
Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome. Am J Hum Genet (2001) 3.09
Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum Genet (1976) 3.08
Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy. Hum Genet (1983) 2.93
Cloning of a gene highly overexpressed in cancer coding for a novel KH-domain containing protein. Oncogene (1997) 2.58
Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome. J Med Genet (2005) 2.54
Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice. Nat Genet (1996) 2.47
[Deficiency on the short arms of a chromosome No. 4]. Humangenetik (1965) 2.46
Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011. Ultrasound Obstet Gynecol (2012) 2.38
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients. J Med Genet (2007) 2.21
Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching. Nat Genet (1996) 2.13
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. J Med Genet (2008) 2.09
Visualization of the conservation of synteny between humans and pigs by heterologous chromosomal painting. Genomics (1995) 1.94
Localization of DNA sequences required for human centromere function through an analysis of rearranged Y chromosomes. Nat Genet (1993) 1.92
Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223. Hum Genet (1980) 1.87
The 11q;22q translocation: a European collaborative analysis of 43 cases. Hum Genet (1980) 1.82
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nat Genet (1994) 1.78
Molecular cloning and characterization of the human protein kinase D2. A novel member of the protein kinase D family of serine threonine kinases. J Biol Chem (2000) 1.76
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion. Neurology (2008) 1.74
In vitro study of the DNA replication patterns of somatic chromosomes of Drosophila melanogaster. Exp Cell Res (1966) 1.68
Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal. Am J Hum Genet (1995) 1.67
Presumptive x-autosome translocation in a cow: preferential inactivation of the normal x chromosome. Nature (1968) 1.65
Expression of the highly conserved RNA binding protein KOC in embryogenesis. Mech Dev (1999) 1.64
Dosimetry of the cone beam computed tomography Veraviewepocs 3D compared with the 3D Accuitomo in different fields of view. Dentomaxillofac Radiol (2008) 1.63
Expression and differential regulation of connective tissue growth factor in pancreatic cancer cells. Oncogene (1999) 1.60
Trisomy 16q21 = to qter. Hum Genet (1980) 1.59
Optimization of in vitro expansion of human multipotent mesenchymal stromal cells for cell-therapy approaches: further insights in the search for a fetal calf serum substitute. J Cell Physiol (2007) 1.57
The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications. Am J Hum Genet (1996) 1.53
A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. Am J Hum Genet (1998) 1.50
Expression of p53 during mouse embryogenesis. Development (1991) 1.50
The unbalanced offspring of the male carriers of the 11q;22q translocation: nondisjunction at meiosis II in a balanced spermatocyte. Hum Genet (1992) 1.50
[Monitoring multiple cardiovascular paramaters using telemedicine in patients with chronic heart failure]. Herzschrittmacherther Elektrophysiol (2005) 1.48
Establishment, characterization and fibre outgrowth of isolated bovine adrenal medullary cells in long-term cultures. Neuroscience (1980) 1.48
A high density of X-linked genes for general cognitive ability: a run-away process shaping human evolution? Trends Genet (2001) 1.46
Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations. J Med Genet (2001) 1.46
Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. Proc Natl Acad Sci U S A (1989) 1.43
The 11q;22q translocation: a collaborative study of 20 new cases and analysis of 110 families. Hum Genet (1983) 1.40
Cytogenetics of multiple endocrine neoplasia syndromes. I. Two different, unique clonal chromosome changes in a medullary thyroid carcinoma and in a C-cell thyroid hyperplasia. Cancer Genet Cytogenet (1992) 1.39
Multiple clonal chromosome abnormalities in a superficial basal cell epithelioma. Cancer Genet Cytogenet (1989) 1.38
Transmission of a fully functional human neocentromere through three generations. Am J Hum Genet (1999) 1.38
[Crying cat syndrome with translocation 5/D 2]. Humangenetik (1966) 1.35
Expression, phosphorylation and nuclear localization of the human P1 protein, a homologue of the yeast Mcm 3 replication protein. J Cell Sci (1995) 1.34
The expression pattern of the Hmgic gene during development. Genes Chromosomes Cancer (1998) 1.33
Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects. Circulation (2000) 1.32
Clonal structural chromosomal rearrangements in primary fibroblast cultures and in lymphocytes of patients with Werner's Syndrome. Hum Genet (1982) 1.28
In situ hybridization studies on variant t(2;8) translocations in Burkitt lymphoma lines. Hum Genet (1986) 1.25
Dynamic expression pattern of the myc protooncogene in midgestation mouse embryos. Science (1989) 1.24
The mouse Mid1 gene: implications for the pathogenesis of Opitz syndrome and the evolution of the mammalian pseudoautosomal region. Hum Mol Genet (1998) 1.24
Women heterozygous for deficiency of the (p21 leads to pter) region of the X chromosome are fertile. Hum Genet (1977) 1.24
A new chromosome instability disorder. Clin Genet (1986) 1.23
Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation. J Med Genet (2007) 1.23
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
Assignment of the gene for human glucose dehydrogenase (E.C. 1.1.1.47) to chromosome 1 using somatic cell hybrids. Cytogenet Cell Genet (1978) 1.22
Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: the ICF syndrome. J Med Genet (1988) 1.22
High levels of thrombopoietin in sera of patients with essential thrombocythemia: cause or consequence of abnormal platelet production? Ann Hematol (1998) 1.21
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis. J Med Genet (2008) 1.20
Partial monosomy 22pter leads to q11 in a newborn with the clinical features of trisomy 13 syndrome. Ann Genet (1980) 1.20
Homozygous and compound heterozygous mutations at the Werner syndrome locus. Hum Mol Genet (1996) 1.19
Breakpoint analysis of the pericentric inversion between chimpanzee chromosome 10 and the homologous chromosome 12 in humans. Cytogenet Genome Res (2005) 1.18
An X-chromosome linked locus contributes to abnormal placental development in mouse interspecific hybrid. Nat Genet (1996) 1.18
Activity of steroid sulfatase in fibroblasts with numerical and structural X chromosome aberrations. Hum Genet (1981) 1.18
Y chromosome controls mating behaviour on Anopheles mosquitoes. Nature (1977) 1.17
Localization of the active type I DNA topoisomerase gene on human chromosome 20q11.2-13.1, and two pseudogenes on chromosomes 1q23-24 and 22q11.2-13.1. Hum Genet (1989) 1.17
Localization of the human bona fide calmodulin genes CALM1, CALM2, and CALM3 to chromosomes 14q24-q31, 2p21.1-p21.3, and 19q13.2-q13.3. Genomics (1993) 1.17
Mapping of a human centromere onto the DNA by topoisomerase II cleavage. EMBO Rep (2000) 1.15
LGL-1: a non-polymorphic antigen expressed on a major population of mouse natural killer cells. J Immunol (1988) 1.14
c-myc and immunoglobulin kappa light chain constant genes are on the 8q+ chromosome of three Burkitt lymphoma lines with t(2;8) translocations. EMBO J (1984) 1.12
A deletion map of the human Yq11 region: implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesis. Genomics (1991) 1.12
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
A new submicroscopic deletion that refines the 9p region for sex reversal. Genomics (2000) 1.12
Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains. Genomics (1998) 1.11
Identification of de novo mutations and rare variants in hypoplastic left heart syndrome. Clin Genet (2011) 1.10
Order of six loci at 2q24-q31 and orientation of the HOXD locus. Genomics (1994) 1.10
[On the topic: longitudinal courses of human palmar ridges]. Humangenetik (1964) 1.10
[Chromosome aberrations in human lymphocytes in cases of chronic arsenic poisoning]. Dtsch Med Wochenschr (1970) 1.10
Structural organization and developmental expression pattern of the mouse WD-repeat gene DMR-N9 immediately upstream of the myotonic dystrophy locus. Hum Mol Genet (1995) 1.09
Refining the phenotype associated with MEF2C haploinsufficiency. Clin Genet (2010) 1.09
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
Preferential maternal derivation in inv dup(15): analysis of eight new cases. Hum Genet (1981) 1.08
A comparative analysis of N-myc and c-myc expression and cellular proliferation in mouse organogenesis. Mech Dev (1991) 1.08
Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome. Am J Hum Genet (1997) 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
Delineation of the 6p22 amplification unit in urinary bladder carcinoma cell lines. Cancer Res (2000) 1.05
Isochores and replication time zones: a perfect match. Cytogenet Genome Res (2007) 1.05
Mapping of the oncogenes Myc, Sis, and int-1 to the distal part of mouse chromosome 15. Cytogenet Cell Genet (1987) 1.05
T cell expressed PKCtheta demonstrates cell-type selective function. Eur J Immunol (2000) 1.04
The cDNA sequence and chromosomal location of the human SOX2 gene. Mamm Genome (1994) 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
Studies on the function of H-Y antigen: dissociation and reorganization experiments on rat gonadal tissue. Cytogenet Cell Genet (1978) 1.02
Prevalence and distribution of chromosome abnormalities in a sample of first trimester internal abortions. Hum Reprod (1987) 1.02
Mapping chromosomal breakpoints of Burkitt's t(8;14) translocations far upstream of c-myc. Cancer Res (1992) 1.02
Presence of telomeric and subtelomeric sequences at the fusion points of ring chromosomes indicates that the ring syndrome is caused by ring instability. Hum Genet (1993) 1.02