"Complete" trisomy 5p; de novo translocation t(2;5)(q36;p11) with isochromosome 5p. Case report and review of the literature.

abstract：:This study was undertaken to evaluate the efficiency of flow cytometry in the detection of the serological H-Y antigen, and to survey expression of H-Y in the normal human population. Peripheral blood leukocytes (granulocytes) were reacted with monoclonal H-Y antibody, gw-16, and with FITC-conjugated goat anti-mouse I...

journal_title：Human genetics

authors： Kent M,Wachtel S,Thaler HT

更新日期：1990-06-01 00:00:00

abstract：:This paper presents some characteristics of the population genetics of primary congenital glaucoma in Slovakia. The overall incidence in Slovakia is 1:10,500, while being 1:1,250 in the Gypsy subpopulation of Slovakia and 1:22,000 in the non-Gypsy population. For a special type of congenital primary glaucoma, transmit...

journal_title：Human genetics

authors： Gencik A,Gencikova A,Ferák V

更新日期：1982-01-01 00:00:00

abstract：:Unraveling the causes and pathomechanisms of progressive disorders is essential for the development of therapeutic strategies. Here, we identified heterozygous pathogenic missense variants of LMX1A in two families of Dutch origin with progressive nonsyndromic hearing impairment (HI), using whole exome sequencing. One ...

journal_title：Human genetics

authors： Wesdorp M,de Koning Gans PAM,Schraders M,Oostrik J,Huynen MA,Venselaar H,Beynon AJ,van Gaalen J,Piai V,Voermans N,van Rossum MM,Hartel BP,Lelieveld SH,Wiel L,Verbist B,Rotteveel LJ,van Dooren MF,Lichtner P,Kunst HPM,

更新日期：2018-05-01 00:00:00

abstract：:Otosclerosis is a common form of hearing loss which typically presents in young adults. The disease has a familial, monogenic form and a non-familial form with a more complex aetiology. A previous genome wide association study identified evidence that variants within RELN are associated with the condition. Other genes...

journal_title：Human genetics

authors： Mowat AJ,Crompton M,Ziff JL,Aldren CP,Lavy JA,Saeed SR,Dawson SJ

更新日期：2018-05-01 00:00:00

abstract：:A "new" low incidence red cell antigen, NFLD, is described. It was found in a Caucasian family and is inherited as an autosomal dominant. The antigen is not part of the AB0, MNSs, Duffy, Kidd, or Yt blood group systems and probably does not belong to the Rh or Kell blood group systems. ...

journal_title：Human genetics

authors： Lewis M,Kaita H,Allderdice PW,Bergren M,McAlpine PJ

更新日期：1984-01-01 00:00:00

abstract：:The family of diacylglycerol kinases (DAGKs) is known to play an important role in signal transduction linked to phospholipid turnover. In the fruitfly Drosophila melanogaster, a human DAGK ortholog, DGK2, was shown to underlie the phenotype of the visual mutant retinal degeneration A (rdgA). Previously, the gene enco...

journal_title：Human genetics

authors： Stöhr H,Klein J,Gehrig A,Koehler MR,Jurklies B,Kellner U,Leo-Kottler B,Schmid M,Weber BH

更新日期：1999-01-01 00:00:00

abstract：:The homeodomain transcription factors (TFs) Pax6 (OMIM: 607108) and Prox1 (OMIM: 601546) critically regulate gene expression in lens development. While PAX6 mutations in humans can cause cataract, aniridia, microphthalmia, and anophthalmia, among other defects, Prox1 deletion in mice causes severe lens abnormalities, ...

journal_title：Human genetics

authors： Aryal S,Viet J,Weatherbee BAT,Siddam AD,Hernandez FG,Gautier-Courteille C,Paillard L,Lachke SA

更新日期：2020-12-01 00:00:00

abstract：:The functional intronless gene coding for a calmodulin-like protein (CLP) has been localized to human chromosome 10p13-ter. Chromosomal assignment was performed by Southern blot analysis of DNA from human-rodent somatic cell hybrids and amplification of a CLP gene-specific 1090-bp DNA fragment by the polymerase chain ...

journal_title：Human genetics

authors： Berchtold MW,Koller M,Egli R,Rhyner JA,Hameister H,Strehler EE

更新日期：1993-01-01 00:00:00

abstract：:We present 42 new Y-chromosomal sequences from diverse Indian tribal and non-tribal populations, including the Jarawa and Onge from the Andaman Islands, which are analysed within a calibrated Y-chromosomal phylogeny incorporating South Asian (in total 305 individuals) and worldwide (in total 1286 individuals) data fro...

journal_title：Human genetics

authors： Mondal M,Bergström A,Xue Y,Calafell F,Laayouni H,Casals F,Majumder PP,Tyler-Smith C,Bertranpetit J

更新日期：2017-05-01 00:00:00

abstract：:The pediatric eye-tumor retinoblastoma is widely held as a paradigm of human cancer genetics and has been a model system for both the two-hit hypothesis of dominantly inherited cancer as well as for the concept of tumor-specific loss of constitutional heterozygosity to achieve expression of the tumorigenic phenotype. ...

journal_title：Human genetics

authors： Schubert EL,Strong LC,Hansen MF

更新日期：1997-10-01 00:00:00

abstract：:A dermatoglyphic analysis of the hands of 16 patients with trisomy for the short arm of chromosome 4 has revealed an increased frequency of whorl patterns on fingertips, presence of axial triradii in position t' on palms and an increase of the main line index. Although of little diagnostic value these changes must be ...

journal_title：Human genetics

authors： Mastroiacovo P,Currò V,Calabro A,Dallapiccola B

更新日期：1976-12-15 00:00:00

abstract：:Novel polymorphic sites within the coding region of the human coagulation factor XIII A-subunit (F13A) gene and their haplotypic combinations with the other polymorphic sites thus far reported are presented. Polymorphic bands were detected in exons 2, 5, 8, 12 and 14 by using single strand conformational polymorphism ...

journal_title：Human genetics

authors： Suzuki K,Henke J,Iwata M,Henke L,Tsuji H,Fukunaga T,Ishimoto G,Szekelyi M,Ito S

更新日期：1996-10-01 00:00:00

abstract：:Mutations in the genes coding for connexin 26 (Cx26) and connexin 31 (Cx31) cause non-syndromic deafness. Here, we provide evidence that mutations at these two connexin genes can interact to cause hearing loss in digenic heterozygotes in humans. We have screened 108 GJB2 heterozygous Chinese patients for mutations in ...

journal_title：Human genetics

authors： Liu XZ,Yuan Y,Yan D,Ding EH,Ouyang XM,Fei Y,Tang W,Yuan H,Chang Q,Du LL,Zhang X,Wang G,Ahmad S,Kang DY,Lin X,Dai P

更新日期：2009-02-01 00:00:00

abstract：:Generalised lymphatic dysplasia (GLD) is characterised by extensive peripheral lymphoedema with visceral involvement. In some cases, it presents in utero with hydrops fetalis. Autosomal dominant and recessive inheritance has been reported. A large, non-consanguineous family with three affected siblings with generalise...

journal_title：Human genetics

authors： Connell F,Kalidas K,Ostergaard P,Brice G,Homfray T,Roberts L,Bunyan DJ,Mitton S,Mansour S,Mortimer P,Jeffery S,Lymphoedema Consortium.

更新日期：2010-02-01 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：: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：:Esterase D levels from 200 retinoblastoma patients have been measured in an attempt to identify individuals carrying deletions of chromosome region 13q14. In this series 75% had bilateral tumours and 23% were familial. Of nine patients identified as having low esterase D levels, five had not previously been diagnosed ...

journal_title：Human genetics

authors： Cowell JK,Rutland P,Jay M,Hungerford J

更新日期：1986-02-01 00:00:00

abstract：:In situ hybridization experiments were carried out with two clones, YACG 35 and 2.8, which had been selected from two genomic libraries strongly enriched for the human Y chromosome. Besides the human Y chromosome, both sequences strongly hybridized to the human X chromosome, with few minor binding sites on autosomes. ...

journal_title：Human genetics

authors： Rappold GA,Cremer T,Cremer C,Back W,Bogenberger J,Cooke HJ

更新日期：1984-01-01 00:00:00

abstract：:Uniparental disomy (UPD) is defined as the presence of a chromosome pair that derives from only one parent in a diploid individual. The human TRKA gene on chromosome 1q21-q22 encodes a receptor tyrosine kinase for nerve growth factor and is responsible for an autosomal recessive genetic disorder: congenital insensitiv...

journal_title：Human genetics

authors： Miura Y,Hiura M,Torigoe K,Numata O,Kuwahara A,Matsunaga M,Hasegawa S,Boku N,Ino H,Mardy S,Endo F,Matsuda I,Indo Y

更新日期：2000-09-01 00:00:00

abstract：:Complement component 3 (C3) is the central molecule of the complement system. It displays a number of polymorphic variants with, as yet, unclear functional consequences. We have investigated a number of rare C3 variants by PCR-SSCP (polymerase chain reaction-single strand conformation polymorphism) analysis and could ...

journal_title：Human genetics

authors： Höhler T,Botto M,Rittner C,Schneider PM,Meyer zum Büschenfelde KH

更新日期：1995-11-01 00:00:00

abstract：:Lod scores are reported for 86 biochemical to cytogenetic marker comparisons in Black kindred. Analysis with unconfirmed locus assignments resulted in 12 exclusions of close linkage. ...

journal_title：Human genetics

authors： Fogle TA,Namboodiri KK,Elston RC,McKenzie WH,Hames CG

更新日期：1980-01-01 00:00:00

abstract：:A female child with mild dysmorphisms, motor and mental retardation had a 45,XX,-8,-8,+psu dic(8)(p23.3) karyotype in blood lymphocytes, skin fibroblasts and in a lymphoblastoid cell line. DNA analysis showed that the proposita was nullisomic for the 8pter region distal to D8S264, at less than 1 cM from the telomere. ...

journal_title：Human genetics

authors： Piantanida M,Dellavecchia C,Floridia G,Giglio S,Hoeller H,Dordi B,Danesino C,Schinzel A,Zuffardi O

更新日期：1997-06-01 00:00:00

abstract：:Fragile sites are nonrandom, heritable sites on chromosomes that can be induced to form gaps, breaks, and rearrangements under specific conditions. There is currently no established criterion to define a common fragile site. We applied seven published criteria to our data from three groups of subjects: (1) three pairs...

journal_title：Human genetics

authors： Jordan DK,Burns TL,Divelbiss JE,Woolson RF,Patil SR

更新日期：1990-10-01 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：:Two single point mutations in the alpha-1-antitrypsin gene, resulting in AAT deficiency, have been characterised in heterozygotes by DNA amplification and direct sequencing. The mutations result in amino acid substitutions, Gly115----Ser and Ser-19----Leu, in the leader sequence, respectively, and have been designated...

journal_title：Human genetics

authors： Graham A,Kalsheker NA,Bamforth FJ,Newton CR,Markham AF

更新日期：1990-10-01 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：:Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders and occurs in its non-classical form in up to 6% of hirsute women. We report on a young woman with the clinical diagnosis of non-classical CAH and a novel, heterozygous missense mutation CTG-->...

journal_title：Human genetics

authors： Bojunga J,Welsch C,Antes I,Albrecht M,Lengauer T,Zeuzem S

更新日期：2005-10-01 00:00:00

abstract：:To elucidate genetic abnormalities in type I CD36 deficiency, we analyzed 28 Japanese subjects whose platelets and monocytes/macrophages lacked CD36 on their surface. We identified two novel mutations in the CD36 gene. One was a complex deletion/insertion mutation, in which 3 bp, GAG, were deleted at nucleotide (nt) 8...

journal_title：Human genetics

authors： Kashiwagi H,Tomiyama Y,Nozaki S,Kiyoi T,Tadokoro S,Matsumoto K,Honda S,Kosugi S,Kurata Y,Matsuzawa Y

更新日期：2001-06-01 00:00:00

abstract：:The arbitrarily primed-PCR (AP-PCR) genomic fingerprinting method was applied to evaluate its effectiveness in detecting and characterizing amplified DNA fragments in two small-cell lung carcinoma (SCLC) cell lines, NCI-H69 and NCI-H82. Of the 2428 DNA fragments detected by AP-PCR using 62 arbitrary primers, 2 (0.08%)...

journal_title：Human genetics

authors： Okazaki T,Takita J,Kohno T,Handa H,Yokota J

更新日期：1996-09-01 00:00:00

abstract：:B-globin haplotypes of 20 beta-thalassemia (beta-thal) and 87 beta(A) Mexican mestizo chromosomes were analyzed to ascertain the origin of the beta-thal alleles and the frequencies and distribution of the beta(A) haplotypes among northwestern Mexican mestizos. Sixteen beta-thal chromosomes carried six Mediterranean al...

journal_title：Human genetics

authors： Villalobos-Arámbula AR,Bustos R,Casas-Castañeda M,Gutiérrez E,Perea FJ,Thein SL,Ibarra B

更新日期：1997-04-01 00:00:00