Refining the genetic map for the region flanking the X-linked hypophosphataemic rickets locus (Xp22.1-22.2).

abstract：:Transient neonatal diabetes mellitus (TNDM) is characterised by intra-uterine growth retardation, while Beckwith-Wiedemann syndrome (BWS) is a clinically heterogeneous overgrowth syndrome. Both TNDM and BWS may be caused by aberrant loss of methylation (LOM) at imprinted loci on chromosomes 6q24 and 11p15.5 respective...

journal_title：Human genetics

authors： Mackay DJ,Hahnemann JM,Boonen SE,Poerksen S,Bunyan DJ,White HE,Durston VJ,Thomas NS,Robinson DO,Shield JP,Clayton-Smith J,Temple IK

更新日期：2006-03-01 00:00:00

abstract：:5'-Bromodeoxyuridine (BrdU) present in the course of late S and G2 phases of the cell cycle in PHA-stimulated human lymphocyte cultures causes the despiralization and elongation of some chromosome regions, including short arms of acrocentric chromosomes. BrdU present at a concentration of 250 microM during the last 10...

journal_title：Human genetics

authors： Musilová J,Michalová K,Hoffmanová H

更新日期：1983-01-01 00:00:00

abstract：:A hereditary disease with excess mortality such as haemophilia is maintained in the population by the occurrence of new cases, i.e. mutations. In haemophilia, mutations may arise in female or male ancestors of a 'new' patient. The ratio of the mutation frequencies in males over females determines the prior risk of car...

journal_title：Human genetics

authors： Rosendaal FR,Bröcker-Vriends AH,van Houwelingen JC,Smit C,Varekamp I,van Dijck H,Suurmeijer TP,Vandenbroucke JP,Briët E

更新日期：1990-12-01 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：:The majority of constitutional reciprocal translocations appear to be unique rearrangements arising from independent events. However, a small number of translocations are recurrent, most significantly the t(11;22)(q23;q11). Among large series of translocations there may be multiple independently ascertained cases with...

journal_title：Human genetics

authors： Thomas NS,Maloney V,Bryant V,Huang S,Brewer C,Lachlan K,Jacobs PA

更新日期：2009-03-01 00:00:00

abstract：:During population genetic studies in Korea a new variant in the 6-phosphogluconate (6-PGD) system preliminary called 6-PGDKorea was observed. ...

journal_title：Human genetics

authors： Benkmann HG,Paik YK,Chen LZ,Goedde HW

更新日期：1986-10-01 00:00:00

abstract：:The development of next-generation sequencing technologies has opened-up some new possibilities to explore the contribution of genetic variants to human diseases and in particular that of rare variants. Statistical methods have been developed to test for association with rare variants that require the definition of te...

journal_title：Human genetics

authors： Bocher O,Génin E

更新日期：2020-11-01 00:00:00

abstract：:The size and position of the heterochromatic regions of chromosome 9 were examined in a group of women with histories of recurrent miscarriage and a control group of fertile women. Measurements were made on whole chromosomes (variability between chromosomes was taken to reflect differences in heterochromatin), and cor...

journal_title：Human genetics

authors： Ford JH,Callen DF,Jahnke AB,Roberts CG

更新日期：1982-01-01 00:00:00

abstract：:Lung inflammation is the major pathogenetic feature for both chronic obstructive pulmonary disease (COPD) and lung cancer. The nuclear factor-kappa B (NFκB) and its inhibitor (IκB) play crucial roles in inflammatory. Here, we tested the hypothesis that single nucleotide polymorphisms (SNPs) in NFκB/IκB confer consiste...

journal_title：Human genetics

authors： Huang D,Yang L,Liu Y,Zhou Y,Guo Y,Pan M,Wang Y,Tan Y,Zhong H,Hu M,Lu W,Ji W,Wang J,Ran P,Zhong N,Zhou Y,Lu J

更新日期：2013-04-01 00:00:00

abstract：:Hypohaptoglobinaemia and ahaptoglobinaemia occurred in three generations, mainly to male members of a family. Also small amounts of haptoglobin were detected in most of the female relatives. Haemolytic anaemia seemed likely and the glucose 6 phosphate dehydrogenase (G.6.P.D.) activity was normal. The probable genotype...

journal_title：Human genetics

authors： Lefranc G,Lefranc MP,Seger J,Salier JP,Chakhachiro L,Loiselet J

更新日期：1981-01-01 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：:Idiopathic pulmonary fibrosis (IPF) is a chronic and progressive fibrotic lung disorder of unknown etiology and unclear pathogenesis. Matrix metalloproteinase-1 (MMP-1) is strongly upregulated and may contribute to the abnormal remodeling that characterizes the disease. We conducted a case-control study of 130 IPF pat...

journal_title：Human genetics

authors： Checa M,Ruiz V,Montaño M,Velázquez-Cruz R,Selman M,Pardo A

更新日期：2008-12-01 00:00:00

abstract：:Two reciprocal balanced translocations involving chromosomes 2, 9, 12, and 18 were found in the karyotype of a woman with a child showing several congenital malformations at birth. Prenatal cytogenetic diagnosis, performed when a second pregnancy occurred, showed a normal chromosome constitution in the foetus. ...

journal_title：Human genetics

authors： Simoni G,Montali E,Rossella F,Dalprà L,Lo Curto F

更新日期：1979-01-25 00:00:00

abstract：:Angelman syndrome is a neuro-developmental disorder caused by genetic abnormalities affecting the maternal gene expression in the chromosome region 15q11-q13. In a study group of 45 Finnish Angelman patients, a recurrence of a del(15)(q11q13) was detected in one family. The mother's chromosomes 15 were structurally no...

journal_title：Human genetics

authors： Kokkonen H,Leisti J

更新日期：2000-07-01 00:00:00

abstract：:Hereditary spastic paraplegia (HSP) is a genetically heterogenous group of inherited neurodegenerative disorders. Recently, an autosomal recessive form of HSP was mapped to 16q24.3, and subsequently the defective gene associated to HSP was identified and designated SPG7. The SPG7 gene product was predicted to encode a...

journal_title：Human genetics

authors： Pearce DA

更新日期：1999-06-01 00:00:00

abstract：:A pachytene chromomere map of bivalent 10 is presented. Recent results from high-resolution metaphase banding document a similar pattern of intrachromosomal differentiation. ...

journal_title：Human genetics

authors： Hungerford DA,Hungerford AM

更新日期：1979-11-01 00:00:00

abstract：:Disease-causing mutations have been identified in various entities of autosomal dominant ataxia and in Friedreich's ataxia. However, no molecular pathogenic factor is known to cause idiopathic cerebellar ataxias. We investigated the CAG/CTG trinucleotide repeats causing spinocerebellar ataxia types 1, 2, 3, 6, 7, 8 an...

journal_title：Human genetics

authors： Schöls L,Szymanski S,Peters S,Przuntek H,Epplen JT,Hardt C,Riess O

更新日期：2000-08-01 00:00:00

abstract：:The Prader-Willi syndrome (PWS) is a developmental disorder caused by a deficiency of paternal contributions, arising from differently sized deletions, uniparental disomy or rare imprinting mutations, in the chromosome region 15q11-q13. We studied 41 patients with suspected PWS and their parents using cytogenetic and ...

journal_title：Human genetics

authors： Kokkonen H,Kähkönen M,Leisti J

更新日期：1995-05-01 00:00:00

abstract：:Newborn hearing screening is not designed to detect delayed-onset prelingual hearing loss or aminoglycoside-antibiotic-induced ototoxicity. Cases with severe to profound hearing loss have been reported to have been missed by newborn hearing screens. The aim of this study was to evaluate the efficacy of concurrent hear...

journal_title：Human genetics

authors： Guo L,Xiang J,Sun L,Yan X,Yang J,Wu H,Guo K,Peng J,Xie X,Yin Y,Wang J,Yang H,Shen J,Zhao L,Peng Z

更新日期：2020-04-01 00:00:00

abstract：:Birth weight has been shown to be associated with obesity and metabolic diseases in adulthood, however, the genetic contribution is still controversial. The objective of this analysis is to explore the genetic contribution to the relationship between birth weight and later risk for obesity and metabolic diseases in Hi...

journal_title：Human genetics

authors： Cai G,Cole SA,Haack K,Butte NF,Comuzzie AG

更新日期：2007-07-01 00:00:00

abstract：:Three families are reported showing transmission of a previously described variant, which is not associated with any clinical abnormality. The variant involves additional material at the band 9p12, which shows homogeneous staining of intermediate density with GTL- and RBG-banding, and negative staining with CBG-bandin...

journal_title：Human genetics

authors： Webb GC,Krumins EJ,Eichenbaum SZ,Voullaire LE,Earle E,Choó KH

更新日期：1989-04-01 00:00:00

abstract：:A familial t(X;2) (p223;q323) is responsible for partial trisomy 2q in the proposita, a 3-year-old girl with severe mental retardation and hypotrophia. It is present in the balanced state in the mother, two daughters, and one son. X-replication was studied after BUDR incroporation and acridine orange staining. The rep...

journal_title：Human genetics

authors： Turleau C,Chavin-Colin F,de Grouchy J,Repessé G,Beauvais P

更新日期：1977-06-10 00:00:00

abstract：:The incidence of exfoliated epithelial cells containing micronuclei was determined in two small human populations, one homozygous and the other heterozygous for the Bloom syndrome gene (bl). The objectives of the study were two: to learn whether the chromosome instability featured so prominently by Bloom syndrome (BS)...

journal_title：Human genetics

authors： Rosin MP,German J

更新日期：1985-01-01 00:00:00

abstract：:Silver-stained cells from 49 parents with a history of several abortions were compared with cells from 35 parents with normal liveborn children. The modal and mean number of silver-stained NORs (Ag-NORs) observed on D- or G-group chromosomes was similar in both groups and between males and females. Ag-NORs were random...

journal_title：Human genetics

authors： Ray M,Pearson J

更新日期：1979-04-27 00:00:00

abstract：:We have studied the incidence of alpha-thalassemia in normal and SS individuals from Senegal, Benin, Upper Volta, and Central Republican Africa. The alpha thal gene frequency is not significantly different in the controls from the various populations and in the SS patients from Senegal. In contrast it is compatible wi...

journal_title：Human genetics

authors： Pagnier J,Dunda-Belkhodja O,Zohoun I,Teyssier J,Baya H,Jaeger G,Nagel RL,Labie D

更新日期：1984-01-01 00:00:00

abstract：:Spinal muscular atrophy (SMA) is one of the most common autosomal recessive diseases, affecting approximately 1 in 10,000 live births, and with a carrier frequency of approximately 1 in 50. Because of gene deletion or conversion, SMN1 exon 7 is homozygously absent in approximately 94% of patients with clinically typic...

journal_title：Human genetics

authors： Ogino S,Wilson RB

更新日期：2002-12-01 00:00:00

abstract：:DyeDeoxy terminator cycle sequencing of allele-specific polymerase chain reaction products has shown that there is a highly polymorphic d(AAAAT) pentanucleotide repeat within the first intron of the human p53 gene. This provides a genetic marker for tumor suppressor p53 gene alterations. ...

journal_title：Human genetics

authors： Hahn M,Fislage R,Pingoud A

更新日期：1995-04-01 00:00:00

abstract：:Our understanding of the process of autophagy and its role in health and diseases has grown remarkably in the last two decades. Early work established autophagy as a general bulk recycling process which involves the sequestration and transport of intracellular material to the lysosome for degradation. Currently, autop...

journal_title：Human genetics

authors： Wong SQ,Kumar AV,Mills J,Lapierre LR

更新日期：2020-03-01 00:00:00

abstract：:A unique two allele polymorphism for both HpaII and SmaI is described in the second intron of the human atrial natriuretic peptide gene. It should be a useful marker of this candidate gene in familial susceptibility to hypertension. ...

journal_title：Human genetics

authors： Ramasawmy R,Kotea N,Lu C,Sayada C,Baligadoo S,Krishnamoorthy R

更新日期：1993-06-01 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