Determining the incidence of rare diseases.

abstract：:Disomy and diploidy frequencies for autosomes 1-22 and the gonosomes were assessed in 299,442 sperm nuclei from four normal fertile men by chromosome painting. This novel approach allowed us to perform a specific and sensitive detection of each chromosome. A minimum of 5000 sperm nuclei per subject were evaluated for ...

journal_title：Human genetics

authors： Rives N,Mazurier S,Bellet D,Joly G,Macé B

更新日期：1998-06-01 00:00:00

abstract：:The predisposing genetic defect in multiple endocrine neoplasia type 1 has been assigned to chromosomal region 11q13. Our previous attempts to identify the MEN1 gene have resulted in the isolation of the phospholipase C beta 3 gene from the actual region. PLCB3 plays an important role in signal transduction and, moreo...

journal_title：Human genetics

authors： Weber G,Grimmond S,Lagercrantz J,Friedman E,Phelan C,Carson E,Hayward N,Jacobovitz O,Nordenskjöld M,Larsson C

更新日期：1997-01-01 00:00:00

abstract：:Molecular characterization of a ring chromosome 14 was carried out in a patient with the 46,XX,r(14) karyotype. The breakpoints shown by chromosome banding were within bands p11 and q32. Using molecular probes for the immunoglobulin heavy chain (IGH), D14S1 and PI loci located at 14q32, we showed that the IGH and D14S...

journal_title：Human genetics

authors： Keyeux G,Gilgenkrantz S,Lefranc G,Lefranc MP

更新日期：1989-06-01 00:00:00

abstract：:Defective function of the Sonic Hedgehog (SHH) signaling pathway is the most frequent alteration underlying holoprosencephaly (HPE) or its various clinical microforms. We performed an extensive mutational analysis of the entire human DISP1 gene, required for secretion of all hedgehog ligand(s) and which maps to the HP...

journal_title：Human genetics

authors： Roessler E,Ma Y,Ouspenskaia MV,Lacbawan F,Bendavid C,Dubourg C,Beachy PA,Muenke M

更新日期：2009-05-01 00:00:00

abstract：:Citrullinemia is an autosomal recessive disorder caused by a genetic deficiency of argininosuccinate synthetase (ASS). So far 20 mutations in ASS mRNA have been identified in human classical citrullinemia, including 14 single base changes causing missense mutations in the coding sequence of the enzyme, 4 mutations ass...

journal_title：Human genetics

authors： Kobayashi K,Kakinoki H,Fukushige T,Shaheen N,Terazono H,Saheki T

更新日期：1995-10-01 00:00:00

abstract：:As new genes for A/M are identified in the genomic era, the number of syndromes associated with A/M has greatly expanded. In this review, we provide a brief synopsis of the clinical presentation and molecular genetic etiology of previously characterized pathways involved in A/M, including the Sex-determining region Y-...

journal_title：Human genetics

authors： Slavotinek A

更新日期：2019-09-01 00:00:00

abstract：:The human gene locus c-MEL was identified following transfection of genomic DNA from the human melanoma cell line NK14; it has previously been assigned to chromosome 19 (p13.2-q13.2) by analysis of somatic cell hybrids. We have further refined the position of this gene to the proximal region of 19p (cen-p13.2), using ...

journal_title：Human genetics

authors： Nimmo E,Padua RA,Hughes D,Brook JD,Williamson R,Johnson KJ

更新日期：1989-03-01 00:00:00

abstract：:Xq28 microduplications of MECP2 are a prominent cause of a severe syndromic form of intellectual disability (ID) in males. Females are usually unaffected through near to complete X-inactivation of the aberrant X chromosome (skewing). In rare cases, affected females have been described due to random X-inactivation. Her...

journal_title：Human genetics

authors： Fieremans N,Bauters M,Belet S,Verbeeck J,Jansen AC,Seneca S,Roelens F,De Baere E,Marynen P,Froyen G

更新日期：2014-11-01 00:00:00

abstract：:Among 639 spontaneous abortions between the 8th and 14th week of gestation 342 (53.5%) revealed an abnormal karyotype. While the rate of trisomies distinctly increased with advancing maternal age, a decrease in the rate of 45,X conceptuses and polyploidies was observed among abortions from older women. The overall rel...

journal_title：Human genetics

authors： Neuber M,Rehder H,Zuther C,Lettau R,Schwinger E

更新日期：1993-07-01 00:00:00

abstract：:Stroke is a common complex trait and does not follow Mendelian pattern of inheritance. Gene-gene or gene-environment interactions may be responsible for the complex trait. How the interactions contribute to stroke is still under research. This study aimed to explore the association between gene-gene interactions and s...

journal_title：Human genetics

authors： Liu J,Sun K,Bai Y,Zhang W,Wang X,Wang Y,Wang H,Chen J,Song X,Xin Y,Liu Z,Hui R

更新日期：2009-06-01 00:00:00

abstract：:Osteopetrosis is the result of mutations affecting osteoclast function. Careful analyses of osteopetrosis have provided instrumental information on bone remodeling, including the coupling of bone formation to bone resorption. Based on a range of novel genetic mutations and the resulting osteoclast phenotypes, we discu...

journal_title：Human genetics

authors： Segovia-Silvestre T,Neutzsky-Wulff AV,Sorensen MG,Christiansen C,Bollerslev J,Karsdal MA,Henriksen K

更新日期：2009-01-01 00:00:00

abstract：:Subjects in the National Academy of Sciences-National Research Council Twin Registry of 31,848 male twin veterans were followed for mortality from 1 January 1946, or from the date of entry into military service if that was later, to 31 December 1978. During this time 3,573 deaths occurred among them, 837 due to trauma...

journal_title：Human genetics

authors： Hrubec Z,Neel JV

更新日期：1981-01-01 00:00:00

abstract：:Oocyte loss has a significant impact on fertility and somatic health. Yet, we know little about factors that impact this process. We sought to identify genetic variants associated with ovarian reserve (oocyte number as measured by antral follicle count, AFC). Based on recently published genome-wide scans that identifi...

journal_title：Human genetics

authors： Schuh-Huerta SM,Johnson NA,Rosen MP,Sternfeld B,Cedars MI,Reijo Pera RA

更新日期：2012-11-01 00:00:00

abstract：:African Americans have increased susceptibility to non-diabetic (non-DM) forms of end-stage renal disease (ESRD) and extensive evidence supports a genetic contribution. A genome-wide association study (GWAS) using pooled DNA was performed in 1,000 African Americans to detect associated genes. DNA from 500 non-DM ESRD ...

journal_title：Human genetics

authors： Bostrom MA,Lu L,Chou J,Hicks PJ,Xu J,Langefeld CD,Bowden DW,Freedman BI

更新日期：2010-08-01 00:00:00

abstract：:Several single-gene disorders with clinical and radiological characteristics similar to those observed in multiple sclerosis (MS) patients have been described. To evaluate whether this phenotypic overlap can be ascribed to a common genetic etiology, 28 genes known to present pathogenic mutations for 24 of these disord...

journal_title：Human genetics

authors： Traboulsee AL,Sadovnick AD,Encarnacion M,Bernales CQ,Yee IM,Criscuoli MG,Vilariño-Güell C

更新日期：2017-06-01 00:00:00

abstract：:The human eye color is a quantitative trait displaying multifactorial inheritance. Several studies have shown that the OCA2 locus is the major contributor to the human eye color variation. By linkage analysis of a large Danish family, we finemapped the blue eye color locus to a 166 Kbp region within the HERC2 gene. By...

journal_title：Human genetics

authors： Eiberg H,Troelsen J,Nielsen M,Mikkelsen A,Mengel-From J,Kjaer KW,Hansen L

更新日期：2008-03-01 00:00:00

abstract：:The Great Lakes lie within a region of East Africa with very high human genetic diversity, home of many ethno-linguistic groups usually assumed to be the product of a small number of major dispersals. However, our knowledge of these dispersals relies primarily on the inferences of historical, linguistics and oral trad...

journal_title：Human genetics

authors： Gomes V,Pala M,Salas A,Álvarez-Iglesias V,Amorim A,Gómez-Carballa A,Carracedo Á,Clarke DJ,Hill C,Mormina M,Shaw MA,Dunne DW,Pereira R,Pereira V,Prata MJ,Sánchez-Diz P,Rito T,Soares P,Gusmão L,Richards MB

更新日期：2015-09-01 00:00:00

abstract：:A new case of "free" trisomy for the short arm of No. 9 chromosome identified by Giemsa staining and "Giemsa-11 technique" is reported. ...

journal_title：Human genetics

authors： Käosaar ME,Mikelsaar AV,Talvik TA,Mikelsaar RV

更新日期：1976-09-10 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：:The significance of short and long arm anomalies of chromosome 1 was investigated in 55 colorectal tumors comprising 41 carcinomas and 14 adenomas. The tumors were at various stages of transformation from adenoma to carcinoma. Our investigation was prompted by the observation of a p32-pter deletion on the short arm of...

journal_title：Human genetics

authors： Couturier-Turpin MH,Esnous C,Louvel A,Poirier Y,Couturier D

更新日期：1992-02-01 00:00:00

abstract：:Proteins were extracted from liver, brain, and skin of 6-day-old mice with trisomy (Ts) 19 and fractionated into solubilized cell proteins and structure-bound cell proteins. The proteins were separated by two-dimensional electrophoresis, and protein patterns were compared in the combinations Ts/normal and normal/norma...

journal_title：Human genetics

authors： Zeindl-Eberhart E,Grohé G,Klose J

更新日期：1987-12-01 00:00:00

abstract：:Postnatal growth records of 13 patients with Wolf-Hirschhorn syndrome indicate that the syndrome is associated with continuing severe growth retardation and marked microcephaly. In spite of severe retardation, these patients (with one exception) survived beyond infancy. ...

journal_title：Human genetics

authors： Fujimoto A,Wilson MG

更新日期：1990-02-01 00:00:00

abstract：:We compared the fragile X (fraX) expression in T and B lymphocytes from four hemizygous males with fraX. Blood cultures were stimulated with a T cell mitogen (phytohemagglutinin:PHA) and with a B cell mitogen (pokeweed mitogen:PWM). A significant decrease in fraX expression was observed in cultures stimulated with PWM...

journal_title：Human genetics

authors： Marchese CA,Lin MS,Wilson MG

更新日期：1984-01-01 00:00:00

abstract：:The ERM proteins, ezrin, radixin, and moesin, act as linkers between the plasma membrane and actin cytoskeleton. They are involved in a variety of cellular functions, such as cell adhesion, migration, and the organization of cell surface structures, and are highly homologous, both in protein sequence and in functional...

journal_title：Human genetics

authors： Majander-Nordenswan P,Sainio M,Turunen O,Jääskeläinen J,Carpén O,Kere J,Vaheri A

更新日期：1998-12-01 00:00:00

abstract：:DNA haplotypes and frameworks (numbers in parenthesis) linked to the beta-globin gene were determined by restriction fragment analysis using eight restriction endonucleases on 86 (97) chromosomes bearing the normal beta-globin gene (HBB*A) and 108 (118) chromosomes bearing HBB*E in subjects homozygous for HBB*A or HBB...

journal_title：Human genetics

authors： Hundrieser J,Sanguansermsri T,Papp T,Laig M,Flatz G

更新日期：1988-09-01 00:00:00

abstract：:The gene frequency of beta-thalassemia among Filipinos is estimated to be 0.02, although little is known about the mutations involved. Recently, an extensive beta-thalassemia deletion was reported in several unrelated individuals of Filipino descent. The deletion begins approximately 4 kb upstream of the beta-globin g...

journal_title：Human genetics

authors： Waye JS,Eng B,Hunt JA,Chui DH

更新日期：1994-11-01 00:00:00

abstract：:Bardet-Biedl syndrome (BBS) is a rare oligogenic disorder exhibiting both clinical and genetic heterogeneity. Although the BBS phenotype is variable both between and within families, the syndrome is characterized by the hallmarks of developmental and learning difficulties, post-axial polydactylia, obesity, hypogenital...

journal_title：Human genetics

authors： Eichers ER,Abd-El-Barr MM,Paylor R,Lewis RA,Bi W,Lin X,Meehan TP,Stockton DW,Wu SM,Lindsay E,Justice MJ,Beales PL,Katsanis N,Lupski JR

更新日期：2006-09-01 00:00:00

abstract：:Familial long QT syndrome (LQTS) is characterized by prolonged ventricular repolarization. Clinical symptoms include recurrent syncopal attacks, and sudden death may occur as a result of ventricular tachyarrhythmias. Three genes responsible for this syndrome (KVLQT1, HERG, and SCN5A) have been identified so far, and m...

journal_title：Human genetics

authors： Itoh T,Tanaka T,Nagai R,Kamiya T,Sawayama T,Nakayama T,Tomoike H,Sakurada H,Yazaki Y,Nakamura Y

更新日期：1998-04-01 00:00:00

abstract：:Hair morphology is a highly divergent phenotype among human populations. We recently reported that a nonsynonymous SNP in the ectodysplasin A receptor (EDAR 1540T/C) is associated with head hair fiber thickness in an ethnic group in Thailand (Thai-Mai) and an Indonesian population. However, these Southeast Asian popul...

journal_title：Human genetics

authors： Fujimoto A,Ohashi J,Nishida N,Miyagawa T,Morishita Y,Tsunoda T,Kimura R,Tokunaga K

更新日期：2008-09-01 00:00:00

abstract：:Recently the defective gene locus in seven Caucasian families with the Romano-Ward form of long QT syndrome (LQT) has been mapped to chromosome 11p. To understand the molecular basis of LQT in Chinese, a three-generation family was investigated. Fourteen family members were studied and five individuals were diagnosed ...

journal_title：Human genetics

authors： Ko YL,Chen SA,Tang TK,Lin JL,Chiang CE,Chen JJ,Teng MS,Chang MS,Lien WP,Wu CW

更新日期：1994-10-01 00:00:00