Mouse models for microphthalmia, anophthalmia and cataracts.

abstract：:An inv ins(7;2)(q21.2;q3105q24.2) was found to segregate through four generations of a family. Adjacent-1 segregation aneusomies were ascertained in five patients: three monosomics and two trisomics; and the corresponding syndromes were delineated. The comparative analysis between these and other previously described ...

journal_title：Human genetics

authors： Moller M,García-Cruz D,Rivera H,Sánchez-Corona J,Cantú JM

更新日期：1984-01-01 00:00:00

abstract：:Galactosemia is an inborn error of galactose metabolism secondary to deficiency of galactose-1-phosphate uridyl transferase (GALT). GALT is a polymorphic enzyme and Duarte (D) is the most common enzyme variant. This variant is characterized by faster electrophoretic mobility and reduced activity. Duarte/galactosemia c...

journal_title：Human genetics

authors： Lin HC,Kirby LT,Ng WG,Reichardt JK

更新日期：1994-02-01 00:00:00

abstract：:Aniridia is a severe eye disease characterized by iris hypoplasia; both sporadic cases and familial cases with an autosomal dominant inheritance exist. Mutations in the PAX6 gene have been shown to be the genetic cause of the disease. Some of the sporadic cases are caused by large chromosomal deletions, some of which ...

journal_title：Human genetics

authors： Grønskov K,Olsen JH,Sand A,Pedersen W,Carlsen N,Bak Jylling AM,Lyngbye T,Brøndum-Nielsen K,Rosenberg T

更新日期：2001-07-01 00:00:00

abstract：:To provide a more precise genetic map of the p22.3-p21.2 region on the short arm of the human X chromosome, we performed multilocus linkage studies in an expanded database including 31 retinoschisis families and 40 normal families. Twelve loci from this region were examined. Although significant lod scores were observ...

journal_title：Human genetics

authors： Alitalo T,Kruse TA,Ahrens P,Albertsen HM,Eriksson AW,de la Chapelle A

更新日期：1991-04-01 00:00:00

abstract：:The motor neuron diseases (MND) are a group of related neurodegenerative diseases that cause the relative selective progressive death of motor neurons. These diseases range from slowly progressive forms including hereditary motor neuropathy (HMN), to the rapidly progressive disorder amyotrophic lateral sclerosis (ALS)...

journal_title：Human genetics

authors： Gopinath S,Blair IP,Kennerson ML,Durnall JC,Nicholson GA

更新日期：2007-06-01 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：:Few studies have examined the association of SNPs in the adiponectin (ADIPOQ) and adiponectin receptor 1 and 2 (ADIPOR1, ADIPOR2) genes with the euglycemic clamp, i.e. the gold standard measure of insulin sensitivity. The association of comprehensive tag SNPs in these genes with insulin sensitivity was examined in a c...

journal_title：Human genetics

authors： Rasmussen-Torvik LJ,Pankow JS,Jacobs DR Jr,Steinberger J,Moran A,Sinaiko AR

更新日期：2009-02-01 00:00:00

abstract：:High-density lipoprotein cholesterol (HDL-C) is a known inverse predictor of coronary heart disease (CHD) and is thus a potential therapeutic target. Cholesteryl ester transfer protein (CETP) is a key protein in HDL-C metabolism such that elevated CETP activity is associated with lower HDL-C. Currently available HDL-C...

journal_title：Human genetics

authors： McCaskie PA,Beilby JP,Chapman CM,Hung J,McQuillan BM,Thompson PL,Palmer LJ

更新日期：2007-05-01 00:00:00

abstract：:An 8-month-old female child with the 9p- karyotype: 46,XX,del(9) (p22) is presented, being the first case from among Oriental people. She has many clinical features similar to those described in Caucasian cases. ...

journal_title：Human genetics

authors： Kuroki Y,Yokota S,Nakai H,Yamamoto Y,Matsui I

更新日期：1977-08-31 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：: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：: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：:We have used the polymerase chain reaction (PCR) technique for the diagnosis of hydatidiform mole, a trophoblastic disease. For this, we targeted the hypervariable 3' flanking region of the APOB gene (APOB/VNTR) because of its high heterozygosity index (0.61) in the Japanese population. We examined seven clinical case...

journal_title：Human genetics

authors： Fukuyama R,Takata M,Kudoh J,Sakai K,Tamura S,Shimizu N

更新日期：1991-06-01 00:00:00

abstract：:Cytogenetic studies were carried out on 150 oocytes obtained in a human in vitro fertilization (IVF) program. Although all cells lacked signs of fertilization at light microscopy, 46 (30.7%) appeared to show cytological evidence of fertilization. At least one-third of these cells (with development arrested before firs...

journal_title：Human genetics

authors： Pieters MH,Geraedts JP,Dumoulin JC,Evers JL,Bras M,Kornips FH,Menheere PP

更新日期：1989-03-01 00:00:00

abstract：:Genome-wide association studies have identified single nucleotide polymorphisms (SNPs) near the human leukocyte antigen (HLA)-DP loci that were significantly correlated with outcomes of hepatitis B virus (HBV) infection. We performed a case-control study nested in a well-characterized cohort of booster recipients to a...

journal_title：Human genetics

authors： Wu TW,Chu CC,Ho TY,Chang Liao HW,Lin SK,Lin M,Lin HH,Wang LY

更新日期：2013-10-01 00:00:00

abstract：:Retinitis pigmentosa is a genetically heterogeneous form of retinal degeneration, which has X-linked, autosomal recessive and autosomal dominant forms. The disease genes in families with autosomal dominant retinitis pigmentosa (adRP) have been linked to six loci, on 3q, 6p, 7p, 7q, 8q and 19q. In a large American fami...

journal_title：Human genetics

authors： McGuire RE,Gannon AM,Sullivan LS,Rodriguez JA,Daiger SP

更新日期：1995-01-01 00:00:00

abstract：:Von Hippel-Lindau (VHL) disease is a hereditary tumor syndrome characterized by predisposition for bilateral and multi-centric hemangioblastoma in the retina and central nervous system, pheochromocytoma, renal cell carcinoma, and cysts in the kidney, pancreas, and epididymis. We describe five families for which direct...

journal_title：Human genetics

authors： Hes F,Zewald R,Peeters T,Sijmons R,Links T,Verheij J,Matthijs G,Leguis E,Mortier G,van der Torren K,Rosman M,Lips C,Pearson P,van der Luijt R

更新日期：2000-04-01 00:00:00

abstract：:Three cases of partial trisomy for the distal segment of chromosome 13 are reported. Common clinical features included normal birth weight, postnatal asphyxia, convulsions, severe psychomotor retardation, normal growth, and a distinct pattern of dysmorphias consisting of trigonocephalic head with prominent metopic sut...

journal_title：Human genetics

authors： Schinzel A,Hayashi K,Schmid W

更新日期：1976-04-15 00:00:00

abstract：:Reports of single base-pair mutations within gene coding regions causing human genetic disease were collated. Thirty-five per cent of mutations were found to have occurred within CpG dinucleotides. Over 90% of these mutations were C----T or G----A transitions, which thus occur within coding regions at a frequency 42-f...

journal_title：Human genetics

authors： Cooper DN,Youssoufian H

更新日期：1988-02-01 00:00:00

abstract：:SNP rs9939609 within the fat mass and obesity associated gene (FTO) is strongly associated with adult body mass index (BMI). However, influences of FTO on longitudinal BMI change from childhood to adulthood have not been examined. Knowledge is limited on FTO, modulating the association between birth weight and longitu...

journal_title：Human genetics

authors： Mei H,Chen W,Srinivasan SR,Jiang F,Schork N,Murray S,Smith E,So JD,Berenson GS

更新日期：2010-12-01 00:00:00

abstract：:The aim of this study was to identify regions of the genome that harbor genes influencing inheritance of bicuspid aortic valve (BAV) and/or associated cardiovascular malformation (CVM). Aortic valve disease is an important clinical problem, which often results in valve replacement, the second most common cardiac surge...

journal_title：Human genetics

authors： Martin LJ,Ramachandran V,Cripe LH,Hinton RB,Andelfinger G,Tabangin M,Shooner K,Keddache M,Benson DW

更新日期：2007-04-01 00:00:00

abstract：:We have recently obtained evidence that the locus corresponding to three groups of partial tracheobronchial cDNAs (A = Jer47, B = Jer57, C = Jer58) which mapped to chromosome 11p15 and was given the symbol MUC5 corresponds to two distinct genes which we have provisionally called MUC5B and MUC5AC. Here we describe the ...

journal_title：Human genetics

authors： Pigny P,Pratt WS,Laine A,Leclercq A,Swallow DM,Nguyen VC,Aubert JP,Porchet N

更新日期：1995-09-01 00:00:00

abstract：:A cystinuria disease gene (rBAT) has recently been identified, but evidence strongly suggests that only Type-I cystinuria is due to mutations in this gene. Sixteen point mutations and a large deletion causing the disease have so far been described in the rBAT gene sequence. To identify new mutated alleles, genomic DNA...

journal_title：Human genetics

authors： Bisceglia L,Calonge MJ,Dello Strologo L,Rizzoni G,de Sanctis L,Gallucci M,Beccia E,Testar X,Zorzano A,Estivill X,Zelante L,Palacin M,Gasparini P,Nunes V

更新日期：1996-10-01 00:00:00

abstract：:As the ability to measure dense genetic markers approaches the limit of the DNA sequence itself, taking advantage of possible clustering of genetic variants in, and around, a gene would benefit genetic association analyses, and likely provide biological insights. The greatest benefit might be realized when multiple ra...

journal_title：Human genetics

authors： Schaid DJ,Sinnwell JP,McDonnell SK,Thibodeau SN

更新日期：2013-11-01 00:00:00

abstract：:A previous analysis of mtDNA variation in the Caucasus found that Indo-European-speaking Armenians and Turkic-speaking Azerbaijanians were more closely related genetically to other Caucasus populations (who speak Caucasian languages) than to other Indo-European or Turkic groups, respectively. Armenian and Azerbaijania...

journal_title：Human genetics

authors： Nasidze I,Sarkisian T,Kerimov A,Stoneking M

更新日期：2003-03-01 00:00:00

abstract：:The Duffy blood group system consists of three alleles, FYA, FYB, and FY. To study the molecular evolution of the three alleles, we established the polymorphism of a dinucleotide (GT) repeat sequence (designated FyGT/C) in the 3' flanking region of the Duffy gene, and studied the relationship between FyGT/C and Duffy ...

journal_title：Human genetics

authors： Li J,Iwamoto S,Sugimoto N,Okuda H,Kajii E

更新日期：1997-05-01 00:00:00

abstract：:Eleven families with X-linked dominant hypophosphataemic rickets (HPDR) have been typed for a series of X chromosome markers. Linkage with probe 99.6 (DXS41) was demonstrated with a peak lod score of 4.82 at 10% recombination. Multilocus linkage analysis showed that HPDR maps distal to 99.6; this probe has previously ...

journal_title：Human genetics

authors： Read AP,Thakker RV,Davies KE,Mountford RC,Brenton DP,Davies M,Glorieux F,Harris R,Hendy GN,King A

更新日期：1986-07-01 00:00:00

abstract：:A Drosophila-related expressed sequence tag (DRES) with sequence similarity to the peanut gene has previously been localized to human chromosome 22q11. We have isolated the cDNA corresponding to this DRES and show that it is a novel member of the family of septin genes, which encode proteins with GTPase activity thoug...

journal_title：Human genetics

authors： McKie JM,Sutherland HF,Harvey E,Kim UJ,Scambler PJ

更新日期：1997-11-01 00:00:00

abstract：:Mucopolysaccharidosis IVA (MPS IVA) is caused by the deficiency of the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase encoded by the GALNS gene on chromosome 16. We describe, in detail, the clinical phenotype of five patients from three unrelated Finnish families and have characterized the disease-causing ...

journal_title：Human genetics

authors： Montaño AM,Kaitila I,Sukegawa K,Tomatsu S,Kato Z,Nakamura H,Fukuda S,Orii T,Kondo N

更新日期：2003-07-01 00:00:00

abstract：:Neurofibromas, benign tumors that originate from the peripheral nerve sheath, are a hallmark of neurofibromatosis type 1 (NF1). Although loss of heterozygosity (LOH) is a common phenomenon in this neoplasia, it only accounts for part of the somatic NF1 mutations found. Somatic point mutations or the presence of "two h...

journal_title：Human genetics

authors： Serra E,Ars E,Ravella A,Sánchez A,Puig S,Rosenbaum T,Estivill X,Lázaro C

更新日期：2001-05-01 00:00:00