Lynch syndrome caused by MLH1 mutations is associated with an increased risk of breast cancer: a cohort study.

abstract：BACKGROUND:The genetic complexity of infantile cardiomyopathies is remarkable, and the importance of mitochondrial translation defects as a causative factor is only starting to be recognised. We investigated the genetic basis for infantile onset recessive hypertrophic cardiomyopathy in two siblings. METHODS AND RESULT...

journal_title：Journal of medical genetics

authors： Carroll CJ,Isohanni P,Pöyhönen R,Euro L,Richter U,Brilhante V,Götz A,Lahtinen T,Paetau A,Pihko H,Battersby BJ,Tyynismaa H,Suomalainen A

更新日期：2013-03-01 00:00:00

abstract：BACKGROUND:Craniosynostosis (CRS) is a premature closure of calvarial sutures caused by gene mutation or environmental factors or interaction between the two. Only a small proportion of non-syndromic CRS (NSC) patients have a known genetic cause, and thus, it would be meaningful to search for a causative gene disruptio...

journal_title：Journal of medical genetics

authors： Kim J,Won HH,Kim Y,Choi JR,Yu N,Lee KA

更新日期：2015-10-01 00:00:00

abstract：INTRODUCTION:Medullary cystic kidney disease 2 (MCKD2) and familial juvenile hyperuricaemic nephropathy (FJHN) are both autosomal dominant renal diseases characterised by juvenile onset of hyperuricaemia, gout, and progressive renal failure. Clinical features of both conditions vary in presence and severity. Often defi...

journal_title：Journal of medical genetics

authors： Hart TC,Gorry MC,Hart PS,Woodard AS,Shihabi Z,Sandhu J,Shirts B,Xu L,Zhu H,Barmada MM,Bleyer AJ

更新日期：2002-12-01 00:00:00

abstract：:Intelligence levels and intelligence profiles were investigated in 52 members of a large family with the fragile X syndrome. The mental abilities were evaluated by the three Wechsler intelligence tests (WAIS, WISC-R, and WPPSI). Chromosomal and psychological data were then compared. In 22 non-retarded fra(X) negative ...

journal_title：Journal of medical genetics

authors： Veenema H,Veenema T,Geraedts JP

更新日期：1987-01-01 00:00:00

abstract：BACKGROUND:Birt-Hogg-Dubé syndrome (BHDS) is an inherited autosomal genodermatosis characterised by fibrofolliculomas of the skin, renal tumours and multiple lung cysts. Genetic studies have disclosed that the clinical picture as well as responsible germline FLCN mutations are diverse. OBJECTIVES:BHDS may be caused by...

journal_title：Journal of medical genetics

authors： Kunogi M,Kurihara M,Ikegami TS,Kobayashi T,Shindo N,Kumasaka T,Gunji Y,Kikkawa M,Iwakami S,Hino O,Takahashi K,Seyama K

更新日期：2010-04-01 00:00:00

abstract：BACKGROUND:Congenital malformations involving the Müllerian ducts are observed in around 5% of infertile women. Complete aplasia of the uterus, cervix, and upper vagina, also termed Müllerian aplasia or Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, occurs with an incidence of around 1 in 4500 female births, and occur...

journal_title：Journal of medical genetics

authors： Nik-Zainal S,Strick R,Storer M,Huang N,Rad R,Willatt L,Fitzgerald T,Martin V,Sandford R,Carter NP,Janecke AR,Renner SP,Oppelt PG,Oppelt P,Schulze C,Brucker S,Hurles M,Beckmann MW,Strissel PL,Shaw-Smith C

更新日期：2011-03-01 00:00:00

abstract：BACKGROUND:Gene-targeting studies in mice have revealed a key role for EVI1 protein in the maintenance of haematopoiesis, and argue in favour of a gene dosage requirement for EVI1 in the regulation of haematopoietic stem cells. Furthermore, a fusion transcript of MDS1 and EVI1 has been shown to play a critical role in ...

journal_title：Journal of medical genetics

authors： Nielsen M,Vermont CL,Aten E,Ruivenkamp CA,van Herrewegen F,Santen GW,Breuning MH

更新日期：2012-09-01 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：:Acute intermittent porphyria (AIP) is a primary disorder of haem biosynthesis that is chemically characterised by raised urinary porphobilinogen (PBG). A defect in the biochemical pathway at the step of PBG conversion to uroporphyrinogen has been shown to be a result of a partial deficiency of the enzyme uroporphyrino...

journal_title：Journal of medical genetics

authors： Lamon JM,Frykholm BC,Tschudy DP

更新日期：1979-04-01 00:00:00

abstract：:We report a Scottish child with inv dup (15) and compare the clinical features with those of previously reported cases. Since the first report by Parker and Alfi in 1972, there have been 44 reports of patients with confirmed or suspected inv dup (15). The extra chromosomal material has been variously described, but in...

journal_title：Journal of medical genetics

authors： Gilmore DH,Boyd E,McClure JP,Batstone P,Connor JM

更新日期：1984-06-01 00:00:00

abstract：BACKGROUND:Several different missense mutations in the voltage-gated sodium channel subunit gene SCN1A have been identified in epileptic patients with benign phenotype and patients with severe phenotype. However, the reason why similar missense mutations in SCN1A result in different phenotypes has not yet been fully cl...

journal_title：Journal of medical genetics

authors： Kanai K,Yoshida S,Hirose S,Oguni H,Kuwabara S,Sawai S,Hiraga A,Fukuma G,Iwasa H,Kojima T,Kaneko S

更新日期：2009-10-01 00:00:00

abstract：:The association of maternal uniparental disomy for chromosome 7 and postnatal growth failure has been reported in four cases and suggests the presence of genomic imprinting of one or more growth related genes on chromosome 7. However, in the reported cases, the possibility of homozygosity for a recessive mutation coul...

journal_title：Journal of medical genetics

authors： Langlois S,Yong SL,Wilson RD,Kwong LC,Kalousek DK

更新日期：1995-11-01 00:00:00

abstract：:Two half sibs with bilateral complete cleft lip and complete cleft of the palate associated with ectrodactyly of the hands and feet, born to the same phenotypically normal mother, are reported. The younger of the two sibs also has dominantly inherited tremors (also referred to as essential heredofamilial tremors) as d...

journal_title：Journal of medical genetics

authors： Lewis MB,Pashayan HM

更新日期：1981-10-01 00:00:00

abstract：:The first Scottish family with pycnodysostosis is reported. The clinical and radiological findings in the two affected men are recorded. ...

journal_title：Journal of medical genetics

authors： Mills KL,Johnston AW

更新日期：1988-08-01 00:00:00

abstract：:The chiasma distribution of bivalents 15 and 16 identified at diakinesis by a quadruple staining technique including DA-DAPI fluorescence has been investigated in two human males. The study has shown that chiasmata are not distributed at random. Both chromosomes have distally localised chiasmata, but in the long arm o...

journal_title：Journal of medical genetics

authors： Saadallah N,Hultén M

更新日期：1983-08-01 00:00:00

abstract：BACKGROUND:Orofacial cleft (OFC) is the most prevalent craniofacial birth defect. Genes involved in one-carbon, folate and vitamin B12 metabolisms have been associated with OFC but no study performed a concomitant assessment on genes involved in these three pathways. OBJECTIVE:We looked for potential genetic variants ...

journal_title：Journal of medical genetics

authors： Goffinet L,Oussalah A,Guéant-Rodriguez RM,Chery C,Basha M,Avogbe PH,Josse T,Jeannesson E,Rouyer P,Flayac J,Gerard P,Le Touze A,Bonin-Goga B,Goga D,Simon E,Feillet F,Vikkula M,Guéant JL

更新日期：2016-12-01 00:00:00

abstract：BACKGROUND:Mutations in TSC1 or TSC2 cause the tuberous sclerosis complex (TSC), a disorder characterised by the development of hamartomas or benign tumours in various organs as well as the variable presence of epilepsy, intellectual disability (ID) and autism. TSC1, TSC2 and the recently described protein TBC1D7 form ...

journal_title：Journal of medical genetics

authors： Capo-Chichi JM,Tcherkezian J,Hamdan FF,Décarie JC,Dobrzeniecka S,Patry L,Nadon MA,Mucha BE,Major P,Shevell M,Bencheikh BO,Joober R,Samuels ME,Rouleau GA,Roux PP,Michaud JL

更新日期：2013-11-01 00:00:00

abstract：BACKGROUND:Members of two seemingly unrelated kindreds of Arab Moslem origin presented with pronounced early onset spastic paraparesis of upper and lower limbs, mild intellectual disability, kyphosis, pectus carinatum and hypertrichosis. METHODS:The authors performed neurological and developmental examinations on the ...

journal_title：Journal of medical genetics

authors： Zivony-Elboum Y,Westbroek W,Kfir N,Savitzki D,Shoval Y,Bloom A,Rod R,Khayat M,Gross B,Samri W,Cohen H,Sonkin V,Freidman T,Geiger D,Fattal-Valevski A,Anikster Y,Waters AM,Kleta R,Falik-Zaccai TC

更新日期：2012-07-01 00:00:00

abstract：BACKGROUND:Intellectual disability (ID) is one of the most common forms of disability worldwide, displaying a wide range of aetiologies and affecting nearly 2% of the global population. OBJECTIVE:To describe a novel autosomal recessive form of ID with strabismus and its underlying aetiology. MATERIALS AND METHODS:Aut...

journal_title：Journal of medical genetics

authors： Alazami AM,Hijazi H,Al-Dosari MS,Shaheen R,Hashem A,Aldahmesh MA,Mohamed JY,Kentab A,Salih MA,Awaji A,Masoodi TA,Alkuraya FS

更新日期：2013-07-01 00:00:00

abstract：:A mild, non-transfusion dependent, beta thalassaemia phenotype is described in a Dutch patient homozygous for a mutation in the cleavage-polyadenylation sequence of the beta globin gene. The molecular basis of the mutation, AATAAA greater than AATGAA, was determined using denaturing gradient gel electrophoresis (DGGE)...

journal_title：Journal of medical genetics

authors： Losekoot M,Fodde R,Harteveld CL,van Heeren H,Giordano PC,Went LN,Bernini LF

更新日期：1991-04-01 00:00:00

abstract：BACKGROUND:Smith-Magenis syndrome (SMS) is caused by del(17)(p11.2), including the retinoic acid induced 1 gene (RAI1), or mutation of RAI1. Haploinsufficiency of RAI1 results in developmental delay, mental retardation, sleep disturbance, self-abusive behaviors, and most features commonly seen in SMS. In this study, 52...

journal_title：Journal of medical genetics

authors： Williams SR,Girirajan S,Tegay D,Nowak N,Hatchwell E,Elsea SH

更新日期：2010-04-01 00:00:00

abstract：:We describe 14 boys and six girls, including monozygotic twins, with the CHARGE association. All of the children had at least four of the seven major features included in the mnemonic CHARGE and all had ear anomalies or deafness or both and either coloboma or choanal atresia or both. All the boys had evidence of hypog...

journal_title：Journal of medical genetics

authors： Oley CA,Baraitser M,Grant DB

更新日期：1988-03-01 00:00:00

abstract：BACKGROUND:Dyslipidaemia, a key risk factor for cardiovascular disease (CVD), is strongly influenced by genetic factors. OBJECTIVE:To identify genetic factors affecting blood lipid concentrations and CVD risk factors in the Korean population by a candidate gene association analysis. METHODS:21 single nucleotide polym...

journal_title：Journal of medical genetics

authors： Park MH,Kim N,Lee JY,Park HY

更新日期：2011-01-01 00:00:00

abstract：:Two cases of growth failure, microcephaly, facial dysmorphism, muscular hypertonia, and severe psychomotor retardation are described. At birth, both cases had cytogenetic mosaicism in lymphocytes and skin fibroblasts, in case 1 ring chromosome 21 and monosomy 21 and in case 2, deletion of chromosome 21 and monosomy 21...

journal_title：Journal of medical genetics

authors： Bartsch O,Petersen MB,Stuhlmann I,Mau G,Frantzen M,Schwinger E,Antonarakis SE,Mikkelsen M

更新日期：1994-07-01 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:Alport syndrome is a clinically heterogeneous, progressive nephropathy caused by mutations in collagen IV genes, namely COL4A3 and COL4A4 on chromosome 2 and COL4A5 on chromosome X. The wide phenotypic variability and the presence of incomplete penetrance suggest that a simple Mendelian model cannot complete...

journal_title：Journal of medical genetics

authors： Mencarelli MA,Heidet L,Storey H,van Geel M,Knebelmann B,Fallerini C,Miglietti N,Antonucci MF,Cetta F,Sayer JA,van den Wijngaard A,Yau S,Mari F,Bruttini M,Ariani F,Dahan K,Smeets B,Antignac C,Flinter F,Renieri A

更新日期：2015-03-01 00:00:00

abstract：:A 5-month-old infant was examined because of minor multiple malformations. He was found to have a de novo blanced reciprocal translocation 46,XY,t(6;8(q13;q22). On follow-up at the age of 17 months his mental development was found to be within normal limits. ...

journal_title：Journal of medical genetics

authors： Fried K,Rosenblatt M,Mundel G

更新日期：1977-04-01 00:00:00

abstract：:Costovertebral dysplasia comprises multiple malformations of the vertebrae and ribs, with a characteristic clinical picture of short trunk dwarfism, short neck, scoliosis, and rib cage deformity. We describe two sibs with the syndrome who are presumed to represent the autosomal recessive form of the disorder. One sib ...

journal_title：Journal of medical genetics

authors： David TJ,Glass A

更新日期：1983-12-01 00:00:00

abstract：OBJECTIVES:To evaluate the feasibility of a reduced counselling programme for predictive genetic testing for hereditary non-polyposis colorectal cancer (HNPCC) in terms of counsellees' opinions on the extent and significance of genetic counselling and need for psychological support at different phases of the testing pr...

journal_title：Journal of medical genetics

authors： Aktan-Collan K,Mecklin JP,de la Chapelle A,Peltomäki P,Uutela A,Kääriäinen H

更新日期：2000-02-01 00:00:00

abstract：:Cytological and cytogenetic studies were performed on nucleated fetal cells present in chorionic villus transport medium. The erythroblastic origin of these cells was shown. Fetal erythroblasts in spontaneous mitosis were frequently observed; chromosome counts were obtained from them but poor quality often prevented b...

journal_title：Journal of medical genetics

authors： Terzoli G,Cartolano R,Rossella F,Cantù-Rajnoldi A,Brambati B,Fraccaro M,Simoni G

更新日期：1992-10-01 00:00:00