Published in Humangenetik on January 01, 1971
A case of trisomy 9. J Med Genet (1973) 1.99
A new case of trisomy for the short arm of No. 9 chromosome. J Med Genet (1973) 1.02
Partial trisomy 9 with resemblance to Coffin-Siris syndrome. J Med Genet (1976) 0.84
A case of partial (9p) trisomy in a family with a balanced translocation 46,XX,t(1p+9q-). J Med Genet (1975) 0.80
Partial 9 trisomy by 3:1 segregation of balanced maternal translocation (7q+; 9q-). J Med Genet (1975) 0.79
Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum Mol Genet (1996) 3.78
[Deficiency on the short arms of a chromosome No. 4]. Humangenetik (1965) 2.46
Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. Nat Genet (1998) 2.39
PAPYRUS 3.0: DICOM-compatible file format. Med Inform (Lond) (1995) 2.32
Targeted disruption of the Insl3 gene causes bilateral cryptorchidism. Mol Endocrinol (1999) 1.99
The Fanconi anaemia group G gene FANCG is identical with XRCC9. Nat Genet (1998) 1.99
Impaired S-phase transit of Werner syndrome cells expressed in lymphoblastoid cell lines. Exp Cell Res (1992) 1.98
Pharmacological profile of BIBN4096BS, the first selective small molecule CGRP antagonist. Br J Pharmacol (2000) 1.95
Isolation, characterization, and organ-specific expression of two novel human zinc finger genes related to the Drosophila gene spalt. Genomics (1996) 1.89
Cytogenetics of Werner's syndrome cultured skin fibroblasts: variegated translocation mosaicism. Cytogenet Cell Genet (1981) 1.85
300 million years of conserved synteny between chicken Z and human chromosome 9. Nat Genet (1999) 1.78
Prenatal diagnosis of human genome variation. Annu Rev Genet (1979) 1.73
SALL3, a new member of the human spalt-like gene family, maps to 18q23. Genomics (1999) 1.70
Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. Hum Mol Genet (2000) 1.65
The nucleotide sequence of a human protamine 1 cDNA. Nucleic Acids Res (1987) 1.61
Nucleotide sequence of a bovine protamine cDNA. Biol Chem Hoppe Seyler (1987) 1.61
Male mice deficient for germ-cell cyritestin are infertile. Biol Reprod (1999) 1.54
Nucleotide sequence of the gene for human transition protein 1 and its chromosomal localization on chromosome 2. Genomics (1990) 1.49
Reverse mosaicism in Fanconi anemia: natural gene therapy via molecular self-correction. Cytogenet Genome Res (2002) 1.49
Variegated translocation mosaicism in human skin fibroblast cultures. Cytogenet Cell Genet (1975) 1.45
MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin. Am J Hum Genet (2001) 1.45
The first highly potent and selective non-peptide neuropeptide Y Y1 receptor antagonist: BIBP3226. Eur J Pharmacol (1994) 1.43
Chromosome 7 short arm deletion and craniosynostosis. A 7p-syndrome. Hum Genet (1976) 1.41
Translational control in spermatogenesis. Dev Biol (1995) 1.39
Growth characteristics of Werner syndrome cells in vitro. Adv Exp Med Biol (1985) 1.39
Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia. Hum Mutat (2002) 1.38
BIIE0246: a selective and high affinity neuropeptide Y Y(2) receptor antagonist. Eur J Pharmacol (1999) 1.38
[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
More on marker X chromosomes, mental retardation and macro-orchidism. N Engl J Med (1979) 1.30
Cultivated cells from diagnostic amniocentesis in second trimester pregnancies. I. Clonal morphology and growth potential. Pediatr Res (1974) 1.29
Haploid expression of a protamine gene during bovine spermatogenesis. Biol Chem Hoppe Seyler (1987) 1.28
Subtype selectivity of the novel nonpeptide neuropeptide Y Y1 receptor antagonist BIBO 3304 and its effect on feeding in rodents. Br J Pharmacol (1998) 1.28
Small structural changes of chromosome 8. Two cases with evidence for deletion. Hum Genet (1977) 1.28
Systematic growth studies, cocultivation, and cell hybridization studies of Werner syndrome cultured skin fibroblasts. Hum Genet (1981) 1.24
[Giemsa-R-banding analysis of the trisomy 9p and report of a new case]. Humangenetik (1973) 1.23
Normalisation of sister chromatid exchange frequencies in Bloom's syndrome by euploid cell hybridisation. Nature (1979) 1.21
Disruption of an inner arm dynein heavy chain gene results in asthenozoospermia and reduced ciliary beat frequency. Hum Mol Genet (2001) 1.19
Cytogenetic aspects of Werner syndrome. Adv Exp Med Biol (1985) 1.19
Significance of phenotypic and chromosomal abnormalities in X-linked mental retardation (Martin-Bell or Renpenning syndrome). Am J Med Genet (1980) 1.18
Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus. Hum Mutat (2004) 1.18
Teratozoospermia in mice lacking the transition protein 2 (Tnp2). Mol Hum Reprod (2001) 1.18
Influence of mutation type and location on phenotype in 123 patients with Rett syndrome. Neuropediatrics (2002) 1.17
Expansion of the (CAG)n repeat causing Huntington's disease in 352 patients of German origin. Hum Mol Genet (1993) 1.16
Reevaluation of the incidence of thromboembolic complications in congenital factor XII deficiency--a study on 73 subjects from 14 Swiss families. Thromb Haemost (1999) 1.16
Mice deficient for spermatid perinuclear RNA-binding protein show neurologic, spermatogenic, and sperm morphological abnormalities. Dev Biol (2001) 1.14
Comparative evaluation of diepoxybutane sensitivity and cell cycle blockage in the diagnosis of Fanconi anemia. Blood (1995) 1.13
Genetic polymorphism of lactate dehydrogenase isoenzymes in the carp (Cyprinus carpio) apparently due to a "null allele". Biochem Genet (1973) 1.12
Rat transition nuclear protein 2 regulatory region directs haploid expression of reporter gene in male germ cells of transgenic mice. Mol Reprod Dev (2001) 1.11
Biochemical and genetic investigation of round-headed spermatozoa in infertile men including two brothers and their father. Andrologia (1984) 1.11
[On the topic: longitudinal courses of human palmar ridges]. Humangenetik (1964) 1.10
Cloning of a cDNA for a novel insulin-like peptide of the testicular Leydig cells. J Biol Chem (1993) 1.09
Trisomy of the long arm of human chromosome 1. Humangenetik (1974) 1.09
Involvement of insulin-like factor 3 (Insl3) in diethylstilbestrol-induced cryptorchidism. Endocrinology (2000) 1.09
[Autoradiographic studies on X-autosomal translocation in man: 45,X.15-,tan(15qZq+)+]. Cytogenetics (1971) 1.08
Coeliac disease: in vivo toxicity of the putative immunodominant epitope. Gut (2003) 1.08
Evidence of clonal attenuation, clonal succession, and clonal expansion in mass cultures of aging Werner's syndrome skin fibroblasts. Cytogenet Cell Genet (1981) 1.08
Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. Am J Hum Genet (1999) 1.07
Clinical performance of interns after being on call. South Med J (1987) 1.06
Second report on chicken genes and chromosomes 2005. Cytogenet Genome Res (2005) 1.05
Utility and limitations of chromosome banding in pre- and postnatal service cytogenetics. Am J Med Genet (1980) 1.05
Allelic association of the cystic fibrosis locus and two DNA markers, XV2c and KM19, in 55 German families. Hum Genet (1988) 1.05
BrdU-Hoechst flow cytometry: a unique tool for quantitative cell cycle analysis. Exp Cell Res (1988) 1.05
Genomic cloning, chromosomal mapping, and expression analysis of msal-2. Mamm Genome (2000) 1.04
Interactions between mouse ZP2 glycoprotein and proacrosin; a mechanism for secondary binding of sperm to the zona pellucida during fertilization. J Cell Sci (2001) 1.04
Fanconi anemia mutation causes cellular susceptibility to ambient oxygen. Am J Hum Genet (1988) 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
A direct demonstration of somatically paired heterochromatin of human chromosomes. Cytogenet Cell Genet (1983) 1.02
Acrosin and the acrosome in human spermatogenesis. Hum Genet (1983) 1.02
Spermatozoa lacking acrosin protein show delayed fertilization. Mol Reprod Dev (1997) 1.01
Endogenous blockage and delay of the chromosome cycle despite normal recruitment and growth phase explain poor proliferation and frequent edomitosis in Fanconi anemia cells. Am J Hum Genet (1985) 1.01
BIBP 3226, the first selective neuropeptide Y1 receptor antagonist: a review of its pharmacological properties. Regul Pept (1996) 0.99
Response to X-irradiation of Fanconi anemia homozygous and heterozygous cells assessed by the single-cell gel electrophoresis (comet) assay. Lab Invest (2001) 0.99
Investigation of the putative immunodominant T cell epitopes in coeliac disease. Gut (2003) 0.99
Pharmacological characterization of the selective nonpeptide neuropeptide Y Y1 receptor antagonist BIBP 3226. J Pharmacol Exp Ther (1995) 0.99
Functional implications of differential chromosome banding. Am J Hum Genet (1975) 0.98
Double aberration correction in a low-energy electron microscope. Ultramicroscopy (2010) 0.98
Cultivated cells from diagnostic amniocentesis in second trimester pregnancies. III. The fetal urine as a potential source of clonable cells. Humangenetik (1975) 0.97
Genomic sequences of human protamines whose genes, PRM1 and PRM2, are clustered. Genomics (1990) 0.97
A human Y-chromosomal DNA sequence expressed in testicular tissue. Nucleic Acids Res (1987) 0.96
High incidence of minor chromosomal variants in teratozoospermic males. Andrologia (1988) 0.96
Effects of cytochalasin B on cultivated human diploid fibroblasts and its use for the isolation of tetraploid clones. Exp Cell Res (1973) 0.96
Analysis of structural and numerical chromosome abnormalities in sperm of normal men and carriers of constitutional chromosome aberrations. A review. Hum Genet (1997) 0.96
Morphological and biochemical heterogeneity of amniotic fluid cells in culture. Methods Cell Biol (1982) 0.96
Increase in final stages of follicular atresia and premature decay of corpora lutea in Insl3-deficient mice. Mol Reprod Dev (2001) 0.95
Cellular aging in Werner's syndrome: a unique phenotype? J Invest Dermatol (1979) 0.95
Spectral karyotyping of Werner syndrome fibroblast cultures. Cytogenet Cell Genet (2000) 0.95
Diploid-triploid mixoploidy: clinical and cytogenetic aspects. Pediatrics (1981) 0.94
Trisomy 3 (p23-pter) resulting from maternal translocation, t (3 ; 4)(p23 ; q35). Ann Genet (1978) 0.94
Linkage relationships and allelic associations of the cystic fibrosis locus and four marker loci. Hum Genet (1987) 0.94
Disruption of the FA/BRCA pathway in bladder cancer. Cytogenet Genome Res (2007) 0.94
Depth of information in photoelectron microscopy. Ultramicroscopy (1982) 0.93
Pluripotent embryonic stem cells and multipotent adult germline stem cells reveal similar transcriptomes including pluripotency-related genes. Mol Hum Reprod (2010) 0.93
Identification of dynein heavy chain genes expressed in human and mouse testis: chromosomal localization of an axonemal dynein gene. Gene (1997) 0.93
Incidence of diploid and disomic sperm nuclei in 45 infertile men. Hum Reprod (1997) 0.91
Identification and characterization of NIF3L1 BP1, a novel cytoplasmic interaction partner of the NIF3L1 protein. Biochem Biophys Res Commun (2003) 0.91
The gene encoding the human preproacrosin (ACR) maps to the q13-qter region on chromosome 22. Hum Genet (1989) 0.91
Hormonal control of gubernaculum development during testis descent: gubernaculum outgrowth in vitro requires both insulin-like factor and androgen. Endocrinology (2000) 0.91