DMC1 mutation that causes human non-obstructive azoospermia and premature ovarian insufficiency identified by whole-exome sequencing.

abstract：:It has previously been suggested that the non-deletion form of the alpha thalassaemia/mental retardation syndrome may be an X linked disorder. We describe four brothers with this syndrome in whom the diagnosis was first suspected because of their characteristic clinical features, although these varied somewhat from on...

journal_title：Journal of medical genetics

authors： Donnai D,Clayton-Smith J,Gibbons RJ,Higgs DR

更新日期：1991-11-01 00:00:00

abstract：:Usher syndrome type I is an autosomal recessive disease characterised by congenital sensorineural deafness, involvement of the vestibular system, and progressive visual loss owing to retinitis pigmentosa. Here we report the association of this disease with bronchiectasis, chronic sinusitis, and reduced nasal mucocilia...

journal_title：Journal of medical genetics

authors： Bonneau D,Raymond F,Kremer C,Klossek JM,Kaplan J,Patte F

更新日期：1993-03-01 00:00:00

abstract：:The BglII polymorphism near the constant region of the T cell receptor beta chain (TCR c beta) has been investigated in normal controls, patients with cystic fibrosis (CF), and CF carriers. A significant increase was found in the frequency of the 10.0:9.2 kb heterozygous genotype in the CF carrier group (71%) as compa...

journal_title：Journal of medical genetics

authors： McMillan SA,Hill AJ,Graham CA,Nevin NC,Fay AC

更新日期：1989-07-01 00:00:00

abstract：:The search for the genes responsible for many complex genetic diseases is well under way and has already been successful in some cases. The study of cancer as a complex genetic disease has lagged behind other conditions, largely because of particular problems that are associated with malignant disease. Cancer also, ho...

journal_title：Journal of medical genetics

authors： Houlston RS,Tomlinson IP

更新日期：2000-03-01 00:00:00

abstract：:Clinical and radiographic evaluation of an infant boy and his father revealed findings suggesting a new variant of spondylometaphyseal dysplasia with an apparently autosomal dominant mode of inheritance. The main clinical findings included short stature and marked ligamentous laxity in the infant. X-ray findings inclu...

journal_title：Journal of medical genetics

authors： García-Castro JM,Isales-Forsythe CM,Díaz de Garau P

更新日期：1982-04-01 00:00:00

abstract：BACKGROUND:Lymphangioleiomyomatosis (LAM) is a prominent finding in the setting of tuberous sclerosis complex (TSC). OBJECTIVE:The present study was designed to compare cystic lung changes consistent with LAM in patients with a TSC1 disease-causing mutation, TSC2 disease-causing mutation, or no mutation identified (NM...

journal_title：Journal of medical genetics

authors： Muzykewicz DA,Sharma A,Muse V,Numis AL,Rajagopal J,Thiele EA

更新日期：2009-07-01 00:00:00

abstract：:Rett syndrome (RS; MIM 312750) is a severe neurological disorder affecting exclusively females. Its prevalence is about 1 in 10,000 female births, and it is a prominent cause of profound mental handicap in women. RS is caused by mutations in the X-linked methyl CpG-binding protein 2 (MECP2) gene. These mutations were ...

journal_title：Journal of medical genetics

authors： Villard L

更新日期：2007-07-01 00:00:00

abstract：BACKGROUND:Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder. Due to the various manifestations of TSC and their potential complications, a multidisciplinary care approach is recommended by consensus guidelines. OBJECTIVES:Our study aimed to give a complete description of our TSC adult coh...

journal_title：Journal of medical genetics

authors： Pfirmann P,Aupy J,Jambon E,Idier L,Prezelin-Reydit M,Fermis M,Devillard R,Grenier N,Combe C,Rigothier C

更新日期：2021-01-01 00:00:00

abstract：BACKGROUND:The extent which universally common or population-specific alleles can explain between-population variations in phenotypes is unknown. The heritable coronary heart disease risk factor lipoprotein(a) (Lp(a)) level provides a useful case study of between-population variation, as the aetiology of twofold higher...

journal_title：Journal of medical genetics

authors： Chretien JP,Coresh J,Berthier-Schaad Y,Kao WH,Fink NE,Klag MJ,Marcovina SM,Giaculli F,Smith MW

更新日期：2006-12-01 00:00:00

abstract：:A family with juvenile proximal spinal muscular atrophy with dominant inheritance and complete penetrance is reported. The disease occurred in three generations and showed high variations in the age of onset and progression among the affected members. A characteristic feature was the constant involvement of facial nuc...

journal_title：Journal of medical genetics

authors： Cao A,Cainchetti C,Calisti L,Tangheroni W

更新日期：1976-04-01 00:00:00

abstract：:Non-syndromic X linked mental retardation (MRX) is a heterogeneous group of conditions in which all patients have mental retardation as the only constant phenotypic feature. We have identified a female patient with mental retardation and a balanced translocation involving chromosomes X and 21, t(X;21)(p11.2;q22.3). Ph...

journal_title：Journal of medical genetics

authors： Lossi AM,Laugier-Anfossi F,Depetris D,Gecz J,Gedeon A,Kooy F,Schwartz C,Mattei MG,Croquette MF,Villard L

更新日期：2002-02-01 00:00:00

abstract：:To define the PKD1 locus further, the gene involved in the most frequent form of adult polycystic kidney disease, probes from 16 polymorphic loci were mapped on 16p13.1-pter with the combined use of cell lines containing rearranged chromosomes and family studies. Five breakpoints in the distal part of 16p arbitrarily ...

journal_title：Journal of medical genetics

authors： Breuning MH,Snijdewint FG,Brunner H,Verwest A,Ijdo JW,Saris JJ,Dauwerse JG,Blonden L,Keith T,Callen DF

更新日期：1990-10-01 00:00:00

abstract：:In order to identify a gene(s) susceptible to idiopathic pulmonary fibrosis (IPF), we conducted a genome-wide association (GWA) study by genotyping 159 patients with IPF and 934 controls for 214 508 tag single-nucleotide polymorphisms (SNPs). We further evaluated selected SNPs in a replication sample set (83 cases and...

journal_title：Journal of medical genetics

authors： Mushiroda T,Wattanapokayakit S,Takahashi A,Nukiwa T,Kudoh S,Ogura T,Taniguchi H,Kubo M,Kamatani N,Nakamura Y,Pirfenidone Clinical Study Group.

更新日期：2008-10-01 00:00:00

abstract：BACKGROUND:Graves' disease is a female preponderant autoimmune illness and the contribution of the X chromosome to its risk has long been appreciated. However, no X-linked susceptibility loci have been indentified from recent genome-wide association studies (GWAS). METHODS:We re-examined the X chromosome data from our...

journal_title：Journal of medical genetics

authors： Chu X,Shen M,Xie F,Miao XJ,Shou WH,Liu L,Yang PP,Bai YN,Zhang KY,Yang L,Hua Q,Liu WD,Dong Y,Wang HF,Shi JX,Wang Y,Song HD,Chen SJ,Chen Z,Huang W

更新日期：2013-07-01 00:00:00

abstract：:We present clinical data on 558 patients with deletions within the DiGeorge syndrome critical region of chromosome 22q11. Twenty-eight percent of the cases where parents had been tested had inherited deletions, with a marked excess of maternally inherited deletions (maternal 61, paternal 18). Eight percent of the pati...

journal_title：Journal of medical genetics

authors： Ryan AK,Goodship JA,Wilson DI,Philip N,Levy A,Seidel H,Schuffenhauer S,Oechsler H,Belohradsky B,Prieur M,Aurias A,Raymond FL,Clayton-Smith J,Hatchwell E,McKeown C,Beemer FA,Dallapiccola B,Novelli G,Hurst JA,Ignatius

更新日期：1997-10-01 00:00:00

abstract：BACKGROUND:Schneckenbecken dysplasia (SBD) is an autosomal recessive lethal skeletal dysplasia that is classified into the severe spondylodysplastic dysplasias (SSDD) group in the international nosology for skeletal dysplasias. The radiological hallmark of SBD is the snail-like configuration of the hypoplastic iliac bo...

journal_title：Journal of medical genetics

authors： Furuichi T,Kayserili H,Hiraoka S,Nishimura G,Ohashi H,Alanay Y,Lerena JC,Aslanger AD,Koseki H,Cohn DH,Superti-Furga A,Unger S,Ikegawa S

更新日期：2009-08-01 00:00:00

abstract：:Idiopathic torsion dystonia (ITD) has long been considered to be genetically determined, but the pattern of inheritance has been unclear. It has been suggested that inheritance may differ in Jews and non-Jews. In the present study, data gathered in a nationwide survey of ITD in Israel were analysed. Between 1969 and 1...

journal_title：Journal of medical genetics

authors： Zilber N,Korczyn AD,Kahana E,Fried K,Alter M

更新日期：1984-02-01 00:00:00

abstract：BACKGROUND:Progeroid syndromes are genetic disorders that recapitulate some phenotypes of physiological ageing. Classical progerias, such as Hutchinson-Gilford progeria syndrome (HGPS), are generally caused by mutations in LMNA leading to accumulation of the toxic protein progerin and consequently, to nuclear envelope ...

journal_title：Journal of medical genetics

authors： Soria-Valles C,Carrero D,Gabau E,Velasco G,Quesada V,Bárcena C,Moens M,Fieggen K,Möhrcken S,Owens M,Puente DA,Asensio Ó,Loeys B,Pérez A,Benoit V,Wuyts W,Lévy N,Hennekam RC,De Sandre-Giovannoli A,López-Otín C

更新日期：2016-11-01 00:00:00

abstract：BACKGROUND:Data on the long-term motor outcomes of genome-wide association study (GWAS)-linked Parkinson disease (PD) carriers are useful for clinical management. OBJECTIVES:To characterise the association between GWAS-linked PARK16 gene variant and disease progression in PD over a 9-year time frame. METHODS:Over a 9...

journal_title：Journal of medical genetics

authors： Deng X,Xiao B,Allen JC,Ng E,Foo JN,Lo YL,Tan LCS,Tan EK

更新日期：2019-11-01 00:00:00

abstract：:Recent epidemiological interest has focused on separation of neural tube defects (NTD) into subgroups which may differ pathogenetically and aetiologically, for example, 'upper' and 'lower' spina bifida. In order to validate the use of pathologists' lesion descriptions by epidemiologists and others, a postal survey of ...

journal_title：Journal of medical genetics

authors： Dolk H,Seller MJ

更新日期：1993-11-01 00:00:00

abstract：BACKGROUND:Cohen syndrome is a rare autosomal recessive disorder with a complex phenotype including psychomotor retardation, microcephaly, obesity with slender extremities, joint laxity, progressive chorioretinal dystrophy/myopia, intermittent isolated neutropenia, a cheerful disposition, and characteristic facial feat...

journal_title：Journal of medical genetics

authors： Rivera-Brugués N,Albrecht B,Wieczorek D,Schmidt H,Keller T,Göhring I,Ekici AB,Tzschach A,Garshasbi M,Franke K,Klopp N,Wichmann HE,Meitinger T,Strom TM,Hempel M

更新日期：2011-02-01 00:00:00

abstract：:Ten useful two allele restriction fragment length polymorphisms of the low density lipoprotein receptor gene were used for haplotype analysis in 45 unrelated familial hypercholesterolaemic (FH) patients, 60 normal controls, and 32 FH homozygotes, all of whom were white Afrikaners. Pedigree analysis in 27 informative h...

journal_title：Journal of medical genetics

authors： Kotze MJ,Langenhoven E,Retief AE,Seftel HC,Henderson HE,Weich HF

更新日期：1989-04-01 00:00:00

abstract：BACKGROUND:Rare variants in hundreds of genes have been implicated in developmental delay (DD), intellectual disability (ID) and neurobehavioural phenotypes. TNRC6B encodes a protein important for RNA silencing. Heterozygous truncating variants have been reported in three patients from large cohorts with autism, but no...

journal_title：Journal of medical genetics

authors： Granadillo JL,P A Stegmann A,Guo H,Xia K,Angle B,Bontempo K,Ranells JD,Newkirk P,Costin C,Viront J,Stumpel CT,Sinnema M,Panis B,Pfundt R,Krapels IPC,Klaassens M,Nicolai J,Li J,Jiang Y,Marco E,Canton A,Latronico

更新日期：2020-10-01 00:00:00

abstract：:We describe the clinical and cytogenetic findings of two patients with deletions of the long arm of chromosome 2. One has an interstitial deletion identical to that found in a previously reported patient, although they are phenotypically dissimilar. The other patient has a terminal deletion, the first such deletion re...

journal_title：Journal of medical genetics

authors： Young RS,Shapiro SD,Hansen KL,Hine LK,Rainosek DE,Guerra FA

更新日期：1983-06-01 00:00:00

abstract：:Pysiological tremor was measured in 14 pairs of monozygotic twins, 14 pairs of dizygotic twins, and 14 pairs of control subjects matched for age and sex. Postural finger tremor was measured in each pair using a sub-miniature accelerometer and subjecting the amplified signals to power spectral analysis. Significant gen...

journal_title：Journal of medical genetics

authors： Tyrer PJ,Kasriel J

更新日期：1975-06-01 00:00:00

abstract：:Usher syndrome is an autosomal recessive disorder characterised by retinitis pigmentosa and congenital sensorineural hearing loss. A gene for Usher syndrome type II (USH2) has been localised to chromosome 1q32-q41. DNA from a family with four of seven sibs affected with clinical characteristics of Usher syndrome type ...

journal_title：Journal of medical genetics

authors： Pieke Dahl S,Kimberling WJ,Gorin MB,Weston MD,Furman JM,Pikus A,Möller C

更新日期：1993-10-01 00:00:00

abstract：:A unique connective tissue disorder characterised by the triad of dentinogenesis imperfecta, blue sclerae, and multiple wormian bones has been identified in 20 members of three generations of a large kindred of mixed ancestry in South Africa. The skeletons of affected subjects were moderately osteoporotic but, apart f...

journal_title：Journal of medical genetics

authors： Beighton P

更新日期：1981-04-01 00:00:00

abstract：:Generalised recessive dystrophic epidermolysis bullosa (EB) is a severe inherited disease in which patients suffer from blistering and scarring of the skin and mucous membranes after minor mechanical trauma. Tight genetic linkage has been established to the type VII collagen gene (COL7A1) at 3p21, with no evidence of ...

journal_title：Journal of medical genetics

authors： Dunnill MG,Rodeck CH,Richards AJ,Atherton D,Lake BD,Petrou M,Eady RA,Pope FM

更新日期：1995-09-01 00:00:00

abstract：INTRODUCTION:Interpretation of results from mutation screening of tumour suppressor genes known to harbour high risk susceptibility mutations, such as APC, BRCA1, BRCA2, MLH1, MSH2, TP53, and PTEN, is becoming an increasingly important part of clinical practice. Interpretation of truncating mutations, gene rearrangemen...

journal_title：Journal of medical genetics

authors： Abkevich V,Zharkikh A,Deffenbaugh AM,Frank D,Chen Y,Shattuck D,Skolnick MH,Gutin A,Tavtigian SV

更新日期：2004-07-01 00:00:00

abstract：:Three sisters with gonadoblastoma and an 46,XY karyotype are presented. This observation suggests that heredity may play an important role in the genesis of the tumour. ...

journal_title：Journal of medical genetics

authors： Ionescu B,Maximilian C

更新日期：1977-06-01 00:00:00