H2AFY promoter deletion causes PITX1 endoactivation and Liebenberg syndrome.

abstract：:The occurrence of primary lymphoedema with distichiasis is well recognised, but that the form of lymphoedema appears restricted to bilateral hyperplasia, as defined by lymphography, has not been reported. ...

journal_title：Journal of medical genetics

authors： Dale RF

更新日期：1987-03-01 00:00:00

abstract：:The inheritance of restriction fragment length polymorphisms for two fibrillar collagen genes (COL1A2 and COL3A1) has been studied in a large Marfan syndrome kindred. We are able to show discordant segregation between the Marfan syndrome and each of the two collagen gene markers. ...

journal_title：Journal of medical genetics

authors： Dalgleish R,Hawkins JR,Keston M

更新日期：1987-03-01 00:00:00

abstract：:The risk of breast cancer for unaffected men who test positive for a BRCA2 mutation is based on very few retrospective studies. We have used both retrospective and prospective analysis in 321 families with pathogenic BRCA2 mutations. Three breast cancers occurred in male first-degree relatives after family ascertainme...

journal_title：Journal of medical genetics

authors： Evans DG,Susnerwala I,Dawson J,Woodward E,Maher ER,Lalloo F

更新日期：2010-10-01 00:00:00

abstract：:Immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX, OMIM 304790) is a rare, recessive disorder resulting in aggressive autoimmunity and early death. Mutations in FOXP3 have been identified in 13 of 14 patients tested. Research in the mouse model, scurfy, suggests that autoimmunity may stem from a lac...

journal_title：Journal of medical genetics

authors： Wildin RS,Smyk-Pearson S,Filipovich AH

更新日期：2002-08-01 00:00:00

abstract：:A total of 102 families with Duchenne muscular dystrophy has been studied with linked DNA polymorphisms as an aid to estimating carrier risks for female relatives. Early work using probes RC8, L1.28, and pXUT23 gave very little clinically useful information because of the high recombination rates between these probes ...

journal_title：Journal of medical genetics

authors： Read AP,Kerzin-Storrar L,Mountford RC,Elles RG,Harris R

更新日期：1986-12-01 00:00:00

abstract：BACKGROUND:Retinitis pigmentosa (RP) is the most common form of inherited retinal dystrophy, with a worldwide prevalence of 1 in 4000 persons. While in most cases of RP, the disease is limited to the eye (non-syndromic), over 40 forms of syndromic RP have been described. OBJECTIVES:To identify the genetic basis for sy...

journal_title：Journal of medical genetics

authors： Tatour Y,Sanchez-Navarro I,Chervinsky E,Hakonarson H,Gawi H,Tahsin-Swafiri S,Leibu R,Lopez-Molina MI,Fernandez-Sanz G,Ayuso C,Ben-Yosef T

更新日期：2017-09-18 00:00:00

abstract：:A 39 year old male with primary infertility was diagnosed as having Klinefelter syndrome by conventional cytogenetic analysis, which also showed an abnormal chromosome 12. Fluorescence in situ hybridisation (FISH) analysis of the aberrant chromosome using a 12 specific centromeric probe showed a break in the alphoid r...

journal_title：Journal of medical genetics

authors： Silahtaroglu AN,Hacihanefioglu S,Güven GS,Cenani A,Wirth J,Tommerup N,Tümer Z

更新日期：1998-08-01 00:00:00

abstract：BACKGROUND:Biallelic germline mutations in the mismatch repair genes MLH1, MSH2, MSH6 or PMS2 cause a recessive childhood cancer syndrome characterised by early-onset malignancies and signs reminiscent of neurofibromatosis type 1 (NF1). Alluding to the underlying genetic defect, we refer to this syndrome as constitutio...

journal_title：Journal of medical genetics

authors： Kratz CP,Holter S,Etzler J,Lauten M,Pollett A,Niemeyer CM,Gallinger S,Wimmer K

更新日期：2009-06-01 00:00:00

abstract：:The results of 200 antenatal diagnoses in pregnancies at risk for homozygous beta-thalassaemia, carried out on fetal blood samples obtained by placental aspiration in the second trimester, are described. Globin chain synthesis in the fetuses was measured by means of 3H-leucine incorporation and separation of the chain...

journal_title：Journal of medical genetics

authors： Cao A,Furbetta M,Angius A,Ximenes A,Rosatelli C,Tuveri T,Scalas MT,Falchi AM,Angioni G,Caminiti F

更新日期：1982-04-01 00:00:00

abstract：:Vitamin-B6-dependent epilepsies are a heterogenous group of treatable disorders due to mutations in several genes (ALDH7A1, PNPO, ALPL or ALDH4A1). In neonatal seizures, defects in ALDH7A1 and PNPO explain a major fraction of cases. Very recently biallelic mutations in PROSC were shown to be a novel cause in five fami...

journal_title：Journal of medical genetics

authors： Plecko B,Zweier M,Begemann A,Mathis D,Schmitt B,Striano P,Baethmann M,Vari MS,Beccaria F,Zara F,Crowther LM,Joset P,Sticht H,Papuc SM,Rauch A

更新日期：2017-12-01 00:00:00

abstract：:We report two patients with suspected hereditary liability to pressure palsies. Neurophysiological studies showed a mixed axonal-demyelinating sensory-motor polyneuropathy with focal slowing of conduction velocities at the common sites of entrapment. Morphological studies on sural nerve biopsy from the proband showed ...

journal_title：Journal of medical genetics

authors： Sessa M,Nemni R,Quattrini A,Del Carro U,Wrabetz L,Canal N

更新日期：1997-11-01 00:00:00

abstract：:We describe a molecular analysis of 184 cystic fibrosis (CF) families in Wales. To determine accurate frequency data for the CF mutations in the Welsh population, families with at least three Welsh grandparents were strictly regarded as Welsh. Of these 74 families, we have identified approximately 90% of mutations cau...

journal_title：Journal of medical genetics

authors： Cheadle J,Myring J,al-Jader L,Meredith L

更新日期：1992-09-01 00:00:00

abstract：BACKGROUND:Germ-line mutations in CYLD are found in patients with familial skin appendage tumours. The protein product functions as a deubiquitinase enzyme, which negatively regulates NF-kappaB and c-Jun N-terminal kinase signalling. Brooke-Spiegler syndrome (BSS) is characterised by cylindromas, trichoepitheliomas and...

journal_title：Journal of medical genetics

authors： Saggar S,Chernoff KA,Lodha S,Horev L,Kohl S,Honjo RS,Brandt HR,Hartmann K,Celebi JT

更新日期：2008-05-01 00:00:00

abstract：PURPOSE:To determine a gene locus for a family with a dominantly inherited vestibulocerebellar disorder characterised by early onset, but not congenital nystagmus. DESIGN:Observational and experimental study. METHODS:We carried out a phenotypic study of a unique four generation family with nystagmus. We performed gen...

journal_title：Journal of medical genetics

authors： Ragge NK,Hartley C,Dearlove AM,Walker J,Russell-Eggitt I,Harris CM

更新日期：2003-01-01 00:00:00

abstract：:Familial amyotrophic lateral sclerosis (FALS) has recently been shown to be linked to chromosome 21 markers in a subset of families. However, we were unable to show linkage between FALS and chromosome 21 markers which flank the putative FALS locus in UK families. ...

journal_title：Journal of medical genetics

authors： King A,Houlden H,Hardy J,Lane R,Chancellor A,de Belleroche J

更新日期：1993-04-01 00:00:00

abstract：BACKGROUND:The apolipoprotein E (ApoE) polymorphism has been well studied in the adult human population, in part because the e4 allele is a known risk factor for Alzheimer's disease. Little is known of the distribution of ApoE alleles in newborns, and their association with perinatal brain damage has not been investiga...

journal_title：Journal of medical genetics

authors： Becher JC,Keeling JW,McIntosh N,Wyatt B,Bell J

更新日期：2006-05-01 00:00:00

abstract：:A family with von Hippel-Lindau disease (VHL) type 2A has been shown to have a T to C missense mutation at nucleotide 547 of the VHL gene. This gives further support for the proposal to associate the 547 T to C mutation with phenotype VHL 2A. ...

journal_title：Journal of medical genetics

authors： Chen F,Slife L,Kishida T,Mulvihill J,Tisherman SE,Zbar B

更新日期：1996-08-01 00:00:00

abstract：:Despite increased expenditure, productivity of the pharmaceutical industry has decreased and currently 90% of developed molecules entering phase II and phase III clinical trials fail to gain regulatory approval. Most of these failures are due to lack of therapeutic efficacy rather than lack of safety, suggesting that ...

journal_title：Journal of medical genetics

authors： Mokry LE,Ahmad O,Forgetta V,Thanassoulis G,Richards JB

更新日期：2015-02-01 00:00:00

abstract：:Having identified teratogenic factors, primary prevention of congenital defects is possible by the implementation of specific measures in pregnant women or those planning pregnancy. Our current understanding of the epigenetic processes acting during reproductive events raises new possibilities to prevent both heritabl...

journal_title：Journal of medical genetics

authors： Martínez-Frías ML

更新日期：2010-02-01 00:00:00

abstract：BACKGROUND:Non-syndromic isolated cleft lip with or without cleft palate (NCL/P) is a common congenital anomaly in humans, the aetiology of which is complex and associated with both genetic and environmental factors. It has been reported that maternal nutritional factors are likely to play a major role in development o...

journal_title：Journal of medical genetics

authors： Mostowska A,Hozyasz KK,Wojcicki P,Dziegelewska M,Jagodzinski PP

更新日期：2010-12-01 00:00:00

abstract：BACKGROUND:Azoospermia is the absence of a measurable level of spermatozoa in the semen. It affects approximately 1% of all men, and the genetic basis of the majority of idiopathic cases is unknown. We investigated two unrelated consanguineous families with idiopathic azoospermia. In family 1, there were three azoosper...

journal_title：Journal of medical genetics

authors： Ayhan Ö,Balkan M,Guven A,Hazan R,Atar M,Tok A,Tolun A

更新日期：2014-04-01 00:00:00

abstract：BACKGROUND:Truncus arteriosus (TA) is characterised by failure of septation of the outflow tract into aortic and pulmonary trunks and is associated with high morbidity and mortality. Although ranked among the least common congenital heart defects, TA provides an excellent model for the role of individual genes in cardi...

journal_title：Journal of medical genetics

authors： Shaheen R,Al Hashem A,Alghamdi MH,Seidahmad MZ,Wakil SM,Dagriri K,Keavney B,Goodship J,Alyousif S,Al-Habshan FM,Alhussein K,Almoisheer A,Ibrahim N,Alkuraya FS

更新日期：2015-05-01 00:00:00

abstract：:Chromosome and enzyme determinations were performed in 250 pregnancies between the 7th and the 12th week of gestation. The majority of the tests were performed for risk of chromosomal abnormalities and 75% of the women were 35 years old or more. We describe a chorionic villi sampling (CVS) technique which proved to be...

journal_title：Journal of medical genetics

authors： Brambati B,Simoni G,Danesino C,Oldrini A,Ferrazzi E,Romitti L,Terzoli G,Rossella F,Ferrari M,Fraccaro M

更新日期：1985-04-01 00:00:00

abstract：:A 7 year old girl is described with congenital hypoplastic anaemia (Diamond-Blackfan anaemia, DBA) and an apparently balanced reciprocal translocation, 46,XX,t(X;19)(p21;q13). The girl has associated features including short stature, unilateral kidney hypoplasia, and a branchial cyst. Fluorescent in situ hybridisation...

journal_title：Journal of medical genetics

authors： Gustavsson P,Skeppner G,Johansson B,Berg T,Gordon L,Kreuger A,Dahl N

更新日期：1997-09-01 00:00:00

abstract：:We describe the clinical and cytogenetic findings in a child with retinoblastoma and a translocation between chromosomes X and 13. The X;13 translocation in this patient does not involve band 13q14, the assigned locus for retinoblastoma. ...

journal_title：Journal of medical genetics

authors： Ponzio G,Savin E,Cattaneo G,Ghiotti MP,Marra A,Zuffardi O,Danesino C

更新日期：1987-07-01 00:00:00

abstract：:In this paper we report on the molecular defect underlying apolipoprotein CII (apoCII) deficiency in an Italian kindred. ApoCII serves as cofactor for lipoprotein lipase (LPL) in triglyceride hydrolysis of chylomicrons and very low density lipoproteins. Homozygous apoCII deficiency manifests with type I hyperlipoprote...

journal_title：Journal of medical genetics

authors： Tuzgöl S,Bijvoet SM,Bruin T,Kastelein JJ,Hayden MR

更新日期：1994-08-01 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：:Adult polycystic kidney disease (APKD) is a common genetic disorder that is inherited as an autosomal dominant trait. Recent reports show that, in some families, the APKD gene shows close genetic linkage to two chromosome 16 specific genetic markers. We have been conducting a genetic linkage study using 29 polymorphic...

journal_title：Journal of medical genetics

authors： Watson ML,Wright AF,Macnicol AM,Allan PL,Clayton JF,Dempster M,Jeremiah SJ,Corney G,Hopkinson DA

更新日期：1987-08-01 00:00:00

abstract：:Evidence is presented to support the recent suggestion that human neural tube closure is similar to that observed in mice, and comprises several regionally distinct closure sites rather than being a simple zipping up process. Seven subjects, each with more than one neural tube defect (NTD), are described. Comparative ...

journal_title：Journal of medical genetics

authors： Seller MJ

更新日期：1995-03-01 00:00:00

abstract：OBJECTIVE:To identify genetic causes of COACH syndrome BACKGROUND:COACH syndrome is a rare autosomal recessive disorder characterised by Cerebellar vermis hypoplasia, Oligophrenia (developmental delay/mental retardation), Ataxia, Coloboma, and Hepatic fibrosis. The vermis hypoplasia falls in a spectrum of mid-hindbrai...

journal_title：Journal of medical genetics

authors： Doherty D,Parisi MA,Finn LS,Gunay-Aygun M,Al-Mateen M,Bates D,Clericuzio C,Demir H,Dorschner M,van Essen AJ,Gahl WA,Gentile M,Gorden NT,Hikida A,Knutzen D,Ozyurek H,Phelps I,Rosenthal P,Verloes A,Weigand H,Chance

更新日期：2010-01-01 00:00:00