Truncating mutations in TAF4B and ZMYND15 causing recessive azoospermia.

abstract：:The spontaneous and mitomycin C (MMC) induced sister chromatid exchange (SCE) frequencies were examined in five adults with myotonic dystrophy (MD). There was no significant difference in the spontaneous incidence of SCE between MD patients and controls. However, a significantly enhanced response to the induction of S...

journal_title：Journal of medical genetics

authors： Vijayalaxmi,Emery AE,Evans HJ

更新日期：1982-04-01 00:00:00

abstract：BACKGROUND:Ethylmalonic encephalopathy (EE) is a rare autosomal recessive metabolic disorder characterised by progressive encephalopathy, recurrent petechiae, acrocyanosis and chronic diarrhoea, with a fatal outcome in early in life. METHODS:14 patients with EE were investigated for mutations in the ETHE1 gene. RESUL...

journal_title：Journal of medical genetics

authors： Mineri R,Rimoldi M,Burlina AB,Koskull S,Perletti C,Heese B,von Döbeln U,Mereghetti P,Di Meo I,Invernizzi F,Zeviani M,Uziel G,Tiranti V

更新日期：2008-07-01 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：:A case of partial trisomy 6p is reported with a review of the various characteristics of this syndrome. ...

journal_title：Journal of medical genetics

authors： Côté GB,Papadakou-Lagoyanni S,Sbyrakis S

更新日期：1978-12-01 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：BACKGROUND:Sonic hedgehog (SHH) plays an important role in defining the anterior-posterior axis in the developing limbs. A highly conserved non-coding sequence about approximately 1 Mb upstream from the sonic hedgehog gene (SHH) was shown to be a long range regulator for SHH expression in the limb bud. Point mutations ...

journal_title：Journal of medical genetics

authors： Klopocki E,Ott CE,Benatar N,Ullmann R,Mundlos S,Lehmann K

更新日期：2008-06-01 00:00:00

abstract：:Aland Island eye disease (AIED) and X linked congenital stationary night blindness (CSNB) have been mapped to Xp11.3. Patients have been described with deletions of the Duchenne muscular dystrophy (DMD) gene who also had a negative electroretinogram (ERG) similar to that seen in patients with CSNB and AIED. This seems...

journal_title：Journal of medical genetics

authors： Jensen H,Warburg M,Sjö O,Schwartz M

更新日期：1995-05-01 00:00:00

abstract：BACKGROUND:Warfarin is a mainstay of therapy for conditions associated with an increased risk of thromboembolic events. However, the use of this common agent is fraught with complications and little is known regarding inter-individual variation in warfarin response. OBJECTIVE:We tested for association between single n...

journal_title：Journal of medical genetics

authors： Li T,Lange LA,Li X,Susswein L,Bryant B,Malone R,Lange EM,Huang TY,Stafford DW,Evans JP

更新日期：2006-09-01 00:00:00

abstract：:Reaction to medical, social, and genetic implications of Marfan syndrome was evaluated by means of two questionnaires, the first after various tests before discussion of the diagnosis, the second after full discussion of the patient's diagnosis. Thirty-seven members of a family known to be at risk for Marfan syndrome ...

journal_title：Journal of medical genetics

authors： Bridges AB,Faed M,Boxer M,Gray JR,Bundy C,Murray A

更新日期：1992-02-01 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：:HLA and Gm typing were carried out in 16 families. Seven families included 10 sib pairs with rheumatoid arthritis (RA) and autoimmune thyroid disease (ATD) respectively, and nine families included 16 sib pairs with RA and circulating thyroid autoantibodies respectively. Eight, 11, and seven sib pairs with either RA or...

journal_title：Journal of medical genetics

authors： Sanders PA,Grennan DM,Dyer PA,de Lange GG,Harris R

更新日期：1985-12-01 00:00:00

abstract：:Oguchi disease is a rare autosomal recessive form of congenital stationary night blindness. The condition is associated with fundus discolouration and abnormally slow dark adaptation. Earlier studies suggested that the 48 kD protein S antigen may be involved in the recovery phase of light transduction. Previous cytoge...

journal_title：Journal of medical genetics

authors： Maw MA,John S,Jablonka S,Müller B,Kumaramanickavel G,Oehlmann R,Denton MJ,Gal A

更新日期：1995-05-01 00:00:00

abstract：:We report a new case of Rubinstein-Taybi syndrome with a hypoplastic right kidney, persistent pulmonary hypertension, and mitral valve regurgitation. Other pertinent features included broad thumbs, broad big toes, syndactyly of the third and fourth fingers bilaterally, beaked nose, broad columella of the nose, patent ...

journal_title：Journal of medical genetics

authors： Kanjilal D,Basir MA,Verma RS,Rajegowda BK,Lala R,Nagaraj A

更新日期：1992-09-01 00:00:00

abstract：:Autosomal dominant sacral agenesis is characterised by a partial agenesis of the sacrum typically involving sacral vertebrae S2-S5 only. Associated features include anorectal malformation, a presacral mass, and urogenital malformation. Together, these features have been defined as the Currarino syndrome. Recently, HLX...

journal_title：Journal of medical genetics

authors： Lynch SA,Wang Y,Strachan T,Burn J,Lindsay S

更新日期：2000-08-01 00:00:00

abstract：:An infant with congenital chondrodysplasia punctata with a secondary deformation of umbilical cord hernia is reported. The paper discusses deformation syndromes as anomalies due to unusual mechanical or intrinsic factors. ...

journal_title：Journal of medical genetics

authors： Chandavasu O,Desposito F

更新日期：1986-02-01 00:00:00

abstract：:Chromosome analysis using conventional staining, G banding, and, after BUdR incorporation, two R banding methods, one using Hoechst and one acridine orange, were performed on lymphocytes from a pair of female monozygotic twins. The culture conditions were designed to show the presence of the fragile X (q27-28) which h...

journal_title：Journal of medical genetics

authors： Tuckerman E,Webb T,Bundey SE

更新日期：1985-04-01 00:00:00

abstract：:The Antley-Bixler syndrome has been thought to be caused by an autosomal recessive gene. However, patients with this phenotype have been reported with a new dominant mutation at the FGFR2 locus as well as in the offspring of mothers taking the antifungal agent fluconazole during early pregnancy. In addition to the cra...

journal_title：Journal of medical genetics

authors： Reardon W,Smith A,Honour JW,Hindmarsh P,Das D,Rumsby G,Nelson I,Malcolm S,Adès L,Sillence D,Kumar D,DeLozier-Blanchet C,McKee S,Kelly T,McKeehan WL,Baraitser M,Winter RM

更新日期：2000-01-01 00:00:00

abstract：:Batten disease is the most common progressive neurodegenerative disorder of childhood in western countries. A novel cDNA responsible for Batten disease has recently been identified. We have developed a rapid diagnostic solid phase minisequencing test to detect the major 1.02 kb deletion which is responsible for 81% of...

journal_title：Journal of medical genetics

authors： Järvelä I,Mitchison HM,Munroe PB,O'Rawe AM,Mole SE,Syvänen AC

更新日期：1996-12-01 00:00:00

abstract：:A panel of five multiallelic and highly informative dinucleotide CA repeat markers flanking the APC gene was used for presymptomatic diagnosis of familial adenomatous polyposis coli (FAP). Marker regions were amplified by PCR. DNA fragments were separated by electrophoresis in denaturing polyacrylamide gels and visual...

journal_title：Journal of medical genetics

authors： Eckert WA,Jung C,Wolff G

更新日期：1994-06-01 00:00:00

abstract：:An interstitial deletion of the region q22.1-->q22.3 of chromosome 14 is described in a child with bilateral anophthalmia, dysmorphic features including micrognathia, small tongue, and high arched palate, developmental and growth retardation, undescended testes with a micropenis, and hypothyroidism. Interstitial delet...

journal_title：Journal of medical genetics

authors： Elliott J,Maltby EL,Reynolds B

更新日期：1993-03-01 00:00:00

abstract：BACKGROUND:Multiple genes have been provisionally associated with Alzheimer's disease, including the coding polymorphisms in exons 8 and 13 in the low density lipoprotein receptor gene (LDLR), situated on chromosome 19p13.2. METHODS:The sample groups consisted of 180 AD patients and 141 control spouses. We carried out...

journal_title：Journal of medical genetics

authors： Cheng D,Huang R,Lanham IS,Cathcart HM,Howard M,Corder EH,Poduslo SE

更新日期：2005-02-01 00:00:00

abstract：:A method is described to investigate the inheritance of disease predisposition in cancer families. It is an extension of classic genetic linkage analysis, which enables information on loss of constitutional heterozygosity (LOCH) to be incorporated into the model. This adapted model treats LOCH data as additional obser...

journal_title：Journal of medical genetics

authors： Teare MD,Rohde K,Santibáñez Koref MF

更新日期：1994-06-01 00:00:00

abstract：:We present a stillborn male infant with premaxillary agenesis, bilateral microphthalmos, alobar holoprosencephaly, hydrocephalus, ventricular and atrial septal defects, small penis, bilateral cryptorchidism, and bilateral upper limb postaxial polydactyly. ...

journal_title：Journal of medical genetics

authors： Young ID,Madders DJ

更新日期：1987-11-01 00:00:00

abstract：:This report concerns two families in which the index patients are sporadic cases of a benign form of muscular dystrophy. In both families the sisters of the patients have married a close relative. The respective risks for a child of these consanguineous marriages being affected with either X linked Becker muscular dys...

journal_title：Journal of medical genetics

authors： Wolff G,Müller CR,Grimm T

更新日期：1989-05-01 00:00:00

abstract：:A cytogenetic survey of the complete population of mentally subnormal in the North-East of Scotland has been undertaken. A register for the mentally subnormal within the region already existed, and all persons recorded, whether they resided at home or in subnormality hospitals or other institutional care, were include...

journal_title：Journal of medical genetics

authors： Speed RM,Johnston AW,Evans HJ

更新日期：1976-08-01 00:00:00

abstract：BACKGROUND:Sedaghatian-type spondylometaphyseal dysplasia (SSMD) is a neonatal lethal form of spondylometaphyseal dysplasia characterised by severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, cardiac conduction defects, and central nervous system abnormalities. As part of the FORGE Canada Con...

journal_title：Journal of medical genetics

authors： Smith AC,Mears AJ,Bunker R,Ahmed A,MacKenzie M,Schwartzentruber JA,Beaulieu CL,Ferretti E,FORGE Canada Consortium.,Majewski J,Bulman DE,Celik FC,Boycott KM,Graham GE

更新日期：2014-07-01 00:00:00

abstract：:Costello syndrome is characterised by postnatal growth deficiency, coarse facies, redundant skin on the neck, palms, soles, and fingers, dark skin, acanthosis nigricans, and papillomata. The natural history evolves in two phases, a severe failure to thrive during the first months contrasting with a normal weight gain ...

journal_title：Journal of medical genetics

authors： Philip N,Sigaudy S

更新日期：1998-03-01 00:00:00

abstract：:We have previously mapped autosomal dominant spinocerebellar ataxia (SCA) 16 to 3p26, overlapping with the locus of SCA15. Recently, partial deletions of ITPR1 and the neighbouring SUMF1 in the SCA15 and two additional families were reported. In the present study we determined the copy number of these genes by real ti...

journal_title：Journal of medical genetics

authors： Iwaki A,Kawano Y,Miura S,Shibata H,Matsuse D,Li W,Furuya H,Ohyagi Y,Taniwaki T,Kira J,Fukumaki Y

更新日期：2008-01-01 00:00:00

abstract：:We report two sisters with macrocephaly, epilepsy, and severe mental retardation. The first child was a 14 year old girl born at term after a normal pregnancy, with birth weight 3600 g and occipitofrontal circumference (OFC) 36 cm (75th centile). Her head size increased markedly during the first six months of life, an...

journal_title：Journal of medical genetics

authors： Orstavik KH,Strømme P,Ek J,Torvik A,Skjeldal OH

更新日期：1997-10-01 00:00:00

abstract：:A method is presented of calculating recurrence risks at a disease locus where there is information from flanking marker loci. This method uses output from the computer programme LIPED. Information from carrier detection tests and mutation at the disease locus can be taken into account in certain pedigrees. ...

journal_title：Journal of medical genetics

authors： Winter RM

更新日期：1985-02-01 00:00:00