Nucleolar organizing regions of human chromosomes.

abstract：:Field inversion gel electrophoresis (FIGE) of SfiI-digested chromosomal DNA was used to demonstrate a 50-kb deletion in one allele of the gene encoding the beta subunit of human hexosaminidase (HEXB at 5q13) of two apparently unrelated patients with Sandhoff disease. In conventional electrophoretic restriction analysi...

journal_title：Human genetics

authors： Bikker H,van den Berg FM,Wolterman RA,de Vijlder JJ,Bolhuis PA

更新日期：1989-02-01 00:00:00

abstract：:DNA sequence analysis and electrophoresis in denaturing gel revealed that a 60 base pair insertion which had been previously postulated on the basis of native polyacrylamide gel electrophoresis of mitochondrial DNA from Japanese (Horai and Matsunaga 1986) did not exist at all. Unusual behavior of certain restriction f...

journal_title：Human genetics

authors： Horai S,Inoue T,Matsunaga E

更新日期：1987-01-01 00:00:00

abstract：: ...

journal_title：Human genetics

authors： Antoniou A,Anton-Culver H,Borowsky A,Broeders M,Brooks J,Chiarelli A,Chiquette J,Cuzick J,Delaloge S,Devilee P,Dorval M,Easton D,Eisen A,Eklund M,Eloy L,Esserman L,Garcia-Closas M,Goldgar D,Hall P,Knoppers BM,Kraf

更新日期：2019-03-01 00:00:00

abstract：:The gene responsible for X-linked cleft palate and ankyloglossia (CPX) has previously been localized to the proximal region of the q arm of the X chromosome in both Icelandic and North American Indian kindreds. In this study, further linkage analysis has been performed on the Icelandic family and has resulted in a sig...

journal_title：Human genetics

authors： Forbes SA,Richardson M,Brennan L,Arnason A,Bjornsson A,Campbell L,Moore G,Stanier P

更新日期：1995-03-01 00:00:00

abstract：:To investigate molecular and clinical aspects of conotruncal anomaly face (CAF), we studied the correlation between deletion size and phenotype and the mode of inheritance in 183 conotruncal anomaly face syndrome (CAFS) patients. Hemizygosity for a region of 22ql1.2 was found in 180 (98%) of the patients with CAFS by ...

journal_title：Human genetics

authors： Matsuoka R,Kimura M,Scambler PJ,Morrow BE,Imamura S,Minoshima S,Shimizu N,Yamagishi H,Joh-o K,Watanabe S,Oyama K,Saji T,Ando M,Takao A,Momma K

更新日期：1998-07-01 00:00:00

abstract：:Genetic polymorphisms in the apolipoprotein B (apoB) gene have been reported to be associated with altered serum lipids and susceptibility to cholesterol gallstones (GS). Gallstones are among the well-known risk factors for carcinoma of the gallbladder (GBC). In the present study, the association between the XbaI poly...

journal_title：Human genetics

authors： Singh MK,Pandey UB,Ghoshal UC,Srivenu I,Kapoor VK,Choudhuri G,Mittal B

更新日期：2004-02-01 00:00:00

abstract：:Segregation analysis was performed in three families affected in X-linked agammaglobulinemia (XLA) with five polymorphic DNA probes linked to the disease locus. In agreement with previous studies, no recombination was observed with either pXG12 (DXS94) or S21 (DXS17). Segregation analysis was also performed with a mar...

journal_title：Human genetics

authors： Guioli S,Arveiler B,Bardoni B,Notarangelo LD,Panina P,Duse M,Ugazio A,Oberlé I,de Saint Basile G,Mandel JL

更新日期：1989-12-01 00:00:00

abstract：:Data on the linkage relation between the GLO locus and the HLA, Bf, and PGM3 loci are presented. The family material includes 49 GLO/HLA-B (and/or Bf) segregating matings with 134 children informative on 199 parental meioses. Of phase-known meioses, 3 are recombinants and 75 nonrecombinants; linkage is therefore prove...

journal_title：Human genetics

authors： Olaisen B,Gedde-Dahl T Jr,Thorsby E

更新日期：1976-06-29 00:00:00

abstract：:Thirty-nine recombinants isolated from a Y chromosome-specific library were deletion mapped. Seven deletion intervals were defined by hybridization of probes to DNA of eight individuals with aberrant Y chromosomes. Extreme cytogenetic limits of the deletion intervals were determined by in situ hybridization of one pro...

journal_title：Human genetics

authors： Oosthuizen CJ,Herbert JS,Vermaak LK,Brusnicky J,Fricke J,du Plessis L,Retief AE

更新日期：1990-07-01 00:00:00

abstract：:The authors report a case of a balanced 1;17 translocation with breakpoints located in the secondary constriction of chromosome 1. This translocation is associated with pathological symptoms similar to those observed following a proximal deletion of 1q. We request contact with colleques who have observed similar, or r...

journal_title：Human genetics

authors： Vorsanova SG,Yurov YB,Kurbatov MB,Kazantzeva LZ

更新日期：1990-12-01 00:00:00

abstract：:Copy number variation has emerged as an important cause of phenotypic variation, particularly in relation to some complex disorders. Autism spectrum disorder (ASD) is one such disorder, in which evidence is emerging for an etiological role for some rare penetrant de novo and rare inherited copy number variants (CNVs)....

journal_title：Human genetics

authors： Woodbury-Smith M,Paterson AD,Thiruvahindrapduram B,Lionel AC,Marshall CR,Merico D,Fernandez BA,Duku E,Sutcliffe JS,O'Conner I,Chrysler C,Thompson A,Kellam B,Tammimies K,Walker S,Yuen RK,Uddin M,Howe JL,Parlier M,Whi

更新日期：2015-02-01 00:00:00

abstract：:The presence of a de novo supernumerary marker chromosome (SMC) poses problems in genetic counseling. The consequences of the additional chromosomal material may range from harmless to detrimental. As the composition of a SMC cannot be deciphered by traditional banding analysis, sophisticated methods are needed for th...

journal_title：Human genetics

authors： Langer S,Fauth C,Rocchi M,Murken J,Speicher MR

更新日期：2001-08-01 00:00:00

abstract：:Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents during the first year of life. The main features of the disease are normochromic and macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. The patients also present with growth retarda...

journal_title：Human genetics

authors： Landowski M,O'Donohue MF,Buros C,Ghazvinian R,Montel-Lehry N,Vlachos A,Sieff CA,Newburger PE,Niewiadomska E,Matysiak M,Glader B,Atsidaftos E,Lipton JM,Beggs AH,Gleizes PE,Gazda HT

更新日期：2013-11-01 00:00:00

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：:Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a myocardial disease characterized by fibro-fatty replacement of right ventricular free wall myocardium and life-threatening ventricular arrhythmias. A missense mutation, c.1073C>T (p.S358L) in the transmembrane protein 43 (TMEM43) gene, has been genetically id...

journal_title：Human genetics

authors： Baskin B,Skinner JR,Sanatani S,Terespolsky D,Krahn AD,Ray PN,Scherer SW,Hamilton RM

更新日期：2013-11-01 00:00:00

abstract：:Autosomal dominant polycystic kidney disease (ADPKD) is one of the most commonly inherited renal diseases. ADPKD is a genetically heterogeneous disorder involving at least three different genes. PKD1, the major locus mapped to chromosome 16p13.3 accounts for approximately 85% of ADPKD cases. The search for mutations i...

journal_title：Human genetics

authors： Perrichot RA,Mercier B,Simon PM,Whebe B,Cledes J,Ferec C

更新日期：1999-09-01 00:00:00

abstract：:Fluorescence in situ hybridization analysis was performed to characterize a complex pericentric inversion involving chromosome 5 in a mother and son. The mother had hypertelorism, epicanthal folds, and mild mental deficiency while the son had additional anomalies that have been observed in patients with cri-du-chat sy...

journal_title：Human genetics

authors： Goodart SA,Butler MG,Overhauser J

更新日期：1996-06-01 00:00:00

abstract：:COCH is the most abundantly expressed gene in the cochlea. Unsurprisingly, mutations in COCH underly hearing loss in mice and humans. Two forms of hearing loss are linked to mutations in COCH, the well-established autosomal dominant nonsyndromic hearing loss, with or without vestibular dysfunction (DFNA9) via a gain-o...

journal_title：Human genetics

authors： Booth KT,Ghaffar A,Rashid M,Hovey LT,Hussain M,Frees K,Renkes EM,Nishimura CJ,Shahzad M,Smith RJ,Ahmed Z,Azaiez H,Riazuddin S

更新日期：2020-12-01 00:00:00

abstract：:Since nine patients with infantile liver cirrhosis or hepatopathy associated with the Pi ZZ phenotype had been observed in recent years in the Children's Hospital of the University of Innsbruck, Tyrol, the distribution of the Pi types and the PiM subtypes was determined in the Tyrolean population. Apparently healthy b...

journal_title：Human genetics

authors： Böhme A,Cleve H,Schönitzer D,Reissigl H,Kazda S,Müller W

更新日期：1983-01-01 00:00:00

abstract：:Mutual correction of co-cultivated fibroblasts from patients with Hunter's and Hurler's syndrome could be inhibited by either fructose 1-phosphate or mannose 6-phosphate. In the presence of fructose 1-phosphate a 50% mixture of fibroblasts from a patient with Hunter's syndrome and a normal homozygous individual showed...

journal_title：Human genetics

authors： Tønnesen T,Lykkelund C,Güttler F

更新日期：1982-01-01 00:00:00

abstract：:Amplification of the beta-globin gene by the polymerase chain reaction (PCR) and direct sequencing were used for a fast and reliable identification of the beta-globin variant Hb D Los Angeles and revealed the predicted G----C substitution in codon 121. The same method showed the molecular defect in Hb Presbyterian to ...

journal_title：Human genetics

authors： Schnee J,Aulehla-Scholz C,Eigel A,Horst J

更新日期：1990-03-01 00:00:00

abstract：:Among the different subtypes of Ehlers-Danlos syndrome (EDS), the dominant types I-III have, so far, been uninformative biochemically and molecular genetically, and diagnostic problems with subgroup boundaries often arise. We have investigated the ultrastructural pattern of connective tissue macromolecules in skin bio...

journal_title：Human genetics

authors： Hausser I,Anton-Lamprecht I

更新日期：1994-04-01 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：:Trichorhinophalangeal syndrome type I (TRPS I) is a rare autosomal dominant syndrome caused by haploinsufficiency of TRPS1 due to point mutations or deletions. Here, we report the first familial TRPS I due to a t(8;13)(q23.3;q21.31) translocation breakpoint <100 kb from the 5' end of TRPS1. Based on the additional abn...

journal_title：Human genetics

authors： David D,Marques B,Ferreira C,Araújo C,Vieira L,Soares G,Dias C,Pinto M

更新日期：2013-11-01 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：: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：:The frequency and distribution of aphidicolin (APC)-induced common fragile sites (cfs) were analyzed in human embryonic cells of different origins. Embryonic lung fibroblasts (MRC-5), amniocytes (AMINO) and embryonic retina cells (HERO790) are as sensitive to the APC-induced clastogenic effect as peripheral lymphocyte...

journal_title：Human genetics

authors： Caporossi D,Vernole P,Nicoletti B,Tedeschi B

更新日期：1995-09-01 00:00:00

abstract：:A functionally inactive plasminogen (PLG) variant designated as PLG M5 is polymorphic in the Japanese population and has a feature common to PLG with type-I mutation that has a codon 601 missense mutation in exon 15 (GCT for Ala-->ACT for Thr). This study was conducted to clarify whether the type-I mutation of PLG is ...

journal_title：Human genetics

authors： Kikuchi S,Yamanouchi Y,Li L,Kobayashi K,Ijima H,Miyazaki R,Tsuchiya S,Hamaguchi H

更新日期：1992-09-01 00:00:00

abstract：:A 13-year-old Hungarian boy (B.J.Jr.) with congenital haemolytic anaemia (CHA) and hyperkinetic torsion dyskinesia was found to have severe triose-phosphate isomerase (TPI) deficiency. One of his two brothers (A.J.), a 23-year-old amateur wrestler, has CHA as well, but no neurological symptoms. Both have less than 10%...

journal_title：Human genetics

authors： Hollán S,Fujii H,Hirono A,Hirono K,Karro H,Miwa S,Harsányi V,Gyódi E,Inselt-Kovács M

更新日期：1993-11-01 00:00:00

abstract：:To identify genetic variants associated with refractive astigmatism in the general population, meta-analyses of genome-wide association studies were performed for: White Europeans aged at least 25 years (20 cohorts, N = 31,968); Asian subjects aged at least 25 years (7 cohorts, N = 9,295); White Europeans aged <25 yea...

journal_title：Human genetics

authors： Li Q,Wojciechowski R,Simpson CL,Hysi PG,Verhoeven VJ,Ikram MK,Höhn R,Vitart V,Hewitt AW,Oexle K,Mäkelä KM,MacGregor S,Pirastu M,Fan Q,Cheng CY,St Pourcain B,McMahon G,Kemp JP,Northstone K,Rahi JS,Cumberland PM,M

更新日期：2015-02-01 00:00:00