Meiotic arrest at first spermatocyte level: a new inherited infertility disorder.

abstract：:We have studied the genetic linkage of two markers, the apolipoprotein C1 (APOC1) gene and a cytochrome P450 (CYP2A) gene, in relation to the gene for myotonic dystrophy (DM). A peak lod score of 9.29 at 2 cM was observed for APOC1-DM, with a lod score of 8.55 at 4 cM for CYP2A-DM. These two markers also show close li...

journal_title：Human genetics

authors： Walsh KV,Harley HG,Brook JD,Rundle SA,Sarfarazi M,Harper PS,Shaw DJ

更新日期：1990-08-01 00:00:00

abstract：:A case of trisomy 6p21 leads to 6pter resulting from a maternal balanced t(2;6)(p25;p21) translocation is reported. The main clinical abnormalities were psychomotor retardation, hypotrophy, blepharophimosis, nystagmus, high nasal bridge, small mouth, sacral dimple, and systolic murmur. Other anomalies might have been ...

journal_title：Human genetics

authors： Bernheim A,Berger R,Vaugier G,Thieffry JC,Matet Y

更新日期：1979-04-17 00:00:00

abstract：:The alphafetoprotein (AFP) concentration in maternal serum was determined before and after chorionic villus sampling (CVS). A significant increase of 20% or more in the pre-CVS level was noted immediately after sampling in 59% of 837 pregnancies indicating some degree of feto-maternal haemorrhage. The increase in the ...

journal_title：Human genetics

authors： Fuhrmann W,Altland K,Köhler A,Holzgreve W,Jovanović V,Rauskolb R,Pawlowitzki IH,Miny P

更新日期：1988-01-01 00:00:00

abstract：:Steroid 21-hydroxylase deficiency is the major cause of congenital adrenal hyperplasia. Genotyping for deletions and nine point mutations in the CYP21 gene has been performed in 38 Spanish patients and their relatives by Southern blot analysis and allele-specific oligonucleotide hybridization. Three clinical variants ...

journal_title：Human genetics

authors： Ezquieta B,Oliver A,Gracia R,Gancedo PG

更新日期：1995-08-01 00:00:00

abstract：:A single-strand conformational polymorphism found in the DNA of a patient with neurofibromatosis 1 (NF1) was shown to be caused by a deletion of a CCACC or CACCT sequence and an adjacent transversion, located about 500 base pairs downstream from the region that codes for a functional domain of the NF1 gene product. Th...

journal_title：Human genetics

authors： Stark M,Assum G,Krone W

更新日期：1991-10-01 00:00:00

abstract：:Five autosomal dominant craniosynostosis syndromes (Apert, Crouzon, Pfeiffer, Jackson-Weiss and Crouzon syndrome with acanthosis nigricans) result from mutations in FGFR genes. Fourteen unrelated patients with FGFR2-related craniosynostosis syndromes were screened for mutations in exons IIIa and IIIc of FGFR2. Eight o...

journal_title：Human genetics

authors： Hollway GE,Suthers GK,Haan EA,Thompson E,David DJ,Gecz J,Mulley JC

更新日期：1997-02-01 00:00:00

abstract：:In order to understand the role of the insulin receptor substrate-2 (IRS2) gene (chromosome region: 13q34) in obesity, a complex disorder associated with insulin resistance and glucose intolerance, we determined single nucleotide polymorphims (SNPs) and complex haplotypes in women with morbid obesity and a body mass i...

journal_title：Human genetics

authors： Lautier C,El Mkadem SA,Renard E,Brun JF,Gris JC,Bringer J,Grigorescu F

更新日期：2003-07-01 00:00:00

abstract：:NALCN is a conserved cation channel, which conducts a permanent sodium leak current and regulates resting membrane potential and neuronal excitability. It is part of a large ion channel complex, the "NALCN channelosome", consisting of multiple proteins including UNC80 and UNC79. The predominant neuronal expression pat...

journal_title：Human genetics

authors： Bramswig NC,Bertoli-Avella AM,Albrecht B,Al Aqeel AI,Alhashem A,Al-Sannaa N,Bah M,Bröhl K,Depienne C,Dorison N,Doummar D,Ehmke N,Elbendary HM,Gorokhova S,Héron D,Horn D,James K,Keren B,Kuechler A,Ismail S,Issa MY

更新日期：2018-09-01 00:00:00

abstract：:To better understand the evolutionary history of the gene region containing the multifunctional adipose tissue hormone leptin, we genotyped 1,957 individuals from 12 world populations for a highly variable tetranucleotide repeat polymorphism located 476 bp 3' of exon 3 of the leptin gene. Common alleles shared among p...

journal_title：Human genetics

authors： Moffett S,Martinson J,Shriver MD,Deka R,McGarvey ST,Barrantes R,Ferrell RE

更新日期：2002-05-01 00:00:00

abstract：:The sickle-cell gene contributes substantially to the presentation of anaemia in certain areas of the Arabian Peninsula. However, the clinical presentation of the homozygous state of Hb S is less severe than that observed in other ethnic groups, such as American negroes. In the present paper, biosynthesis studies perf...

journal_title：Human genetics

authors： El-Hazmi MA

更新日期：1979-01-01 00:00:00

abstract：:Hand-foot-genital syndrome (HFGS) is a dominantly inherited congenital malformation affecting the distal limbs and genitourinary tract. Here, we describe the phenotype and its molecular basis in a family that presented with HFGS. Genetic analysis revealed that the condition is caused by an 18-bp in-frame duplication w...

journal_title：Human genetics

authors： Utsch B,Becker K,Brock D,Lentze MJ,Bidlingmaier F,Ludwig M

更新日期：2002-05-01 00:00:00

abstract：:In a patient with Shwachman syndrome, a high incidence of chromosome breakage was found. Chromosome studies done on three occasions on the patient's PHA-stimulated peripheral blood lymphocytes showed elevated frequencies of spontaneous chromosome aberrations compared with those in normal individuals. The patient's lym...

journal_title：Human genetics

authors： Tada H,Ri T,Yoshida H,Ishimoto K,Kaneko M,Yamashiro Y,Shinohara T

更新日期：1987-11-01 00:00:00

abstract：:One of the many potential uses of the HapMap project is its application to the investigation of complex disease aetiology among a wide range of populations. This study aims to assess the transferability of HapMap SNP data to the Spanish population in the context of cancer research. We have carried out a genotyping stu...

journal_title：Human genetics

authors： Ribas G,González-Neira A,Salas A,Milne RL,Vega A,Carracedo B,González E,Barroso E,Fernández LP,Yankilevich P,Robledo M,Carracedo A,Benítez J

更新日期：2006-02-01 00:00:00

abstract：:Autosomal dominant polycystic kidney disease is characterized by clinical and genetic heterogeneity. Two loci implicated in the disease have previously been mapped (PKD1 on chromosome 16 and PKD2 on chromosome 4). By two point and multipoint linkage analysis, negative lod scores have been found for both chromosome 16 ...

journal_title：Human genetics

authors： de Almeida S,de Almeida E,Peters D,Pinto JR,Távora I,Lavinha J,Breuning M,Prata MM

更新日期：1995-07-01 00:00:00

abstract：:Although microsatellite typing is the dominant method in genome research and indirect gene diagnosis, precise relationships of exonic and adjacent simple repeat polymorphisms are not known. We investigated exon 2 sequences of HLA-DRB1 genes and their neighbouring (GT)n(GA)m repeats including the intervening single cop...

journal_title：Human genetics

authors： Epplen C,Santos EJ,Guerreiro JF,van Helden P,Epplen JT

更新日期：1997-03-01 00:00:00

abstract：:The human hap retinoic acid receptor RAR beta has been localized by in situ hybridization to the p24 band of chromosome 3. ...

journal_title：Human genetics

authors： Mattei MG,de Thé H,Mattei JF,Marchio A,Tiollais P,Dejean A

更新日期：1988-10-01 00:00:00

abstract：:This paper surveys the current state of knowledge about the relationship between different national publics and biobanks, how different publics perceive biobanks, and which issues are identified as important by various stakeholders. We discuss existing studies and emerging governance strategies dealing with the bioban...

journal_title：Human genetics

authors： Gottweis H,Chen H,Starkbaum J

更新日期：2011-09-01 00:00:00

abstract：:Human and chimpanzee karyotypes differ by virtue of nine pericentric inversions that serve to distinguish human chromosomes 1, 4, 5, 9, 12, 15, 16, 17, and 18 from their chimpanzee orthologues. In this study, we have analysed the breakpoints of the pericentric inversion characteristic of chimpanzee chromosome 4, the h...

journal_title：Human genetics

authors： Szamalek JM,Goidts V,Chuzhanova N,Hameister H,Cooper DN,Kehrer-Sawatzki H

更新日期：2005-07-01 00:00:00

abstract：:Congenital heart disease (CHD) affects over 40% of Down syndrome (DS) patients. The region proposed to contain the gene(s) for DS CHD has been restricted to 21q22.2-22.3, from D21S55 to MX1. The identification and functional characterization of the genes mapping to this region is a necessary step to understand the pat...

journal_title：Human genetics

authors： Egeo A,Mazzocco M,Sotgia F,Arrigo P,Oliva R,Bergonòn S,Nizetic D,Rasore-Quartino A,Scartezzini P

更新日期：1998-03-01 00:00:00

abstract：:Steroid sulfatase activities are significantly higher in placentas obtained after the birth of girls than after the birth of boys, and also in female fibroblasts compared to male strains. This constitutes biochemical evidence for the non-inactivation of the X-linked sulfatase locus. No hydrolytic activity is found in ...

journal_title：Human genetics

authors： Bedin M,Weil D,Fournier T,Cedard L,Frezal J

更新日期：1981-01-01 00:00:00

abstract：:Given that a large number of candidate genes coding for a tendency toward obesity have been identified and some findings have been replicated, we explored characteristics of those who would be most likely to obtain future genetic testing for this tendency. During a series of focus groups, obese respondents rated their...

journal_title：Human genetics

authors： Segal ME,Polansky M,Sankar P

更新日期：2007-01-01 00:00:00

abstract：:Vitamin D inadequacy, assessed by 25-hydroxyvitamin D [25(OH)D], affects around 50% of adults in the United States and is associated with numerous adverse health outcomes. Blood 25(OH)D concentrations are influenced by genetic factors that may determine how much vitamin D intake is required to reach optimal 25(OH)D. D...

journal_title：Human genetics

authors： Hatchell KE,Lu Q,Hebbring SJ,Michos ED,Wood AC,Engelman CD

更新日期：2019-10-01 00:00:00

abstract：:A ring chromosome No. 13 was found in a 21-year-old female with multiple anomalies suggestive of 13q--syndrome. Chromosomes of the girl and her parents, studied by quinacrine staining, revealed the ring to be of paternal origin. Detailed study of the quinacrine banding pattern of the ring indicated loss of the most di...

journal_title：Human genetics

authors： Magenis RE,Wyandt HE,Overton KM,Macfarlane J

更新日期：1976-07-27 00:00:00

abstract：:We have identified a Tsp509I polymorphism in the 3' UTR of the human tyrosinase related protein-1 gene (TYRP). TYRP is one of several genes involved in melanin pigment production. ...

journal_title：Human genetics

authors： Wildenberg SC,King RA,Oetting WS

更新日期：1995-02-01 00:00:00

abstract：:The pattern of X-chromosome inactivation was analyzed, by means of two different DNA probes (pSPT-PGK and M27 beta), in several cell lineages derived from females belonging to a pedigree with X-linked immunodeficiency with hyper-IgM (HIGM1). Non-random X-chromosome inactivation was demonstrated in T cells, B cells, an...

journal_title：Human genetics

authors： Notarangelo LD,Parolini O,Albertini A,Duse M,Mazzolari E,Plebani A,Camerino G,Ugazio AG

更新日期：1991-12-01 00:00:00

abstract：:A novel human nm23/nucleoside diphosphate (NDP) kinase gene, called nm23-H4, was identified by screening a human stomach cDNA library with a probe generated by amplification by reverse transcription-polymerase chain reaction. The primers were designed from publicly available database cDNA sequences selected according ...

journal_title：Human genetics

authors： Milon L,Rousseau-Merck MF,Munier A,Erent M,Lascu I,Capeau J,Lacombe ML

更新日期：1997-04-01 00:00:00

abstract：:CAG/CTG repeat expansions cause at least 12 different neurological disorders, and additional disorders of this type probably exist. Using the repeat expansion detection (RED) assay, we identified an expanded CAG/CTG repeat in a 50-year-old woman with an autosomal dominant syndrome with prominent progressive sensory ne...

journal_title：Human genetics

authors： Holmes SE,Wentzell JS,Seixas AI,Callahan C,Silveira I,Ross CA,Margolis RL

更新日期：2006-09-01 00:00:00

abstract：:A Turkish family is described with two members suffering from familial amyloidotic polyneuropathy. Their transthyretin genes were examined using the polymerase chain reaction, and both patients possessed the met30 mutation in both of their transthyretin genes. In this family, only individuals who are homozygous for th...

journal_title：Human genetics

authors： Skare J,Yazici H,Erken E,Dede H,Cohen A,Milunsky A,Skinner M

更新日期：1990-11-01 00:00:00

abstract：:Single base substitutions in DNA mismatch repair genes which are predicted to lead either to missense or silent mutations, or to intronic variants outside the highly conserved splicing region are often found in hereditary nonpolyposis colorectal cancer (HNPCC) families. In order to use the variants for predictive test...

journal_title：Human genetics

authors： Pagenstecher C,Wehner M,Friedl W,Rahner N,Aretz S,Friedrichs N,Sengteller M,Henn W,Buettner R,Propping P,Mangold E

更新日期：2006-03-01 00:00:00

abstract：:To determine whether the CLCA gene family of calcium-activated chloride channels is a modulator of the basic defect of cystic fibrosis (CF), an association study was performed with polymorphic microsatellite markers covering a 40-Mbp region spanning the CLCA gene locus on human chromosome 1p in CF patients displaying ...

journal_title：Human genetics

authors： Ritzka M,Stanke F,Jansen S,Gruber AD,Pusch L,Woelfl S,Veeze HJ,Halley DJ,Tümmler B

更新日期：2004-11-01 00:00:00