Wide range of reduced penetrance alleles in spinal and bulbar muscular atrophy: a model-based approach.

abstract：:A family study of 32 patients with torsion dystonia has shown at least two forms of generalized dystonia with onset in childhood. These two forms, an autosomal dominant and an autosomal recessive, are clinically indistinguishable. There were at least three families and probably about six to eight patients with the aut...

journal_title：Journal of medical genetics

authors： Bundey S,Harrison MJ,Marsden CD

更新日期：1975-03-01 00:00:00

abstract：BACKGROUND:BRCA1 and BRCA2 (BRCA1/2) variants classified ambiguously as variants of uncertain significance (VUS) are a major challenge for clinical genetic testing in breast cancer; their relevance to the cancer risk is unclear and the association with the response to specific BRCA1/2-targeted agents is uncertain. To m...

journal_title：Journal of medical genetics

authors： Lee JS,Oh S,Park SK,Lee MH,Lee JW,Kim SW,Son BH,Noh DY,Lee JE,Park HL,Kim MJ,Cho SI,Lee YK,Park SS,Seong MW

更新日期：2018-12-01 00:00:00

abstract：:Data from 98 patients with hereditary haemorrhagic telangiectasia (HHT) are presented. All were symptomatic by 40 years of age and 62% by 16 years. Nose bleeding was the first symptom of disease in 90% of cases with mucocutaneous telangiectases appearing 5 to 20 years later. Complications of HHT are discussed and an a...

journal_title：Journal of medical genetics

authors： Porteous ME,Burn J,Proctor SJ

更新日期：1992-08-01 00:00:00

abstract：:Partial monosomy 10q25.2----qter, detected in a newborn baby with multiple congenital abnormalities, was found to be derived from a balanced maternal translocation t(6;10)(q27;q25.2). The pedigree of six generations of the family is presented. In an extensive cytogenetic study of this family, the chromosome complement...

journal_title：Journal of medical genetics

authors： Brusnický J,van Heerden KM,de Jong G,Cronjé AS,Retief AE

更新日期：1986-10-01 00:00:00

abstract：BACKGROUND:Ubiquitination has a central role in numerous biological processes, including cell development, stress responses and ageing. Perturbed ubiquitination has been implicated in human diseases ranging from cancer to neurodegenerative diseases. SIAH1 encodes a RING-type E3 ubiquitin ligase involved in protein ubiq...

journal_title：Journal of medical genetics

authors： Buratti J,Ji L,Keren B,Lee Y,Booke S,Erdin S,Kim SY,Palculict TB,Meiner V,Chae JH,Woods CG,Tam A,Héron D,Cong F,Harel T

更新日期：2020-05-19 00:00:00

abstract：:Split hand-split foot malformation (SHFM) is a genetically heterogeneous limb developmental defect characterised by the absence of digital rays and syndactyly of the remaining digits. Three disease loci have recently been mapped to chromosomes 7q21 (SHFM1), Xq26 (SHFM2), and 10q25 respectively (SHFM3). We report the m...

journal_title：Journal of medical genetics

authors： Raas-Rothschild A,Manouvrier S,Gonzales M,Farriaux JP,Lyonnet S,Munnich A

更新日期：1996-12-01 00:00:00

abstract：:Evidence for linkage has been sought, in four pedigrees with Crouzon syndrome, between polymorphic markers known to be linked to the Saethre-Chotzen locus on 7p and another form of autosomal dominant craniosynostosis on 5q. The data we present exclude Crouzon syndrome as an allelic variant at either of these known cra...

journal_title：Journal of medical genetics

authors： Reardon W,van Herwerden L,Rose C,Jones B,Malcolm S,Winter RM

更新日期：1994-03-01 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

abstract：:The results of the present investigation have failed to confirm the suggestion that there is a significant increase in the proportion of echinocytes in preparation of fresh erythrocytes in patients with Duchenne muscular dystrophy and heterozygous carriers of this disorder. ...

journal_title：Journal of medical genetics

authors： Soltan HC

更新日期：1977-08-01 00:00:00

abstract：BACKGROUND:Autistic spectrum disorders (ASDs) with developmental delay and seizures are a genetically heterogeneous group of diseases caused by at least 700 different genes. Still, a number of cases remain genetically undiagnosed. OBJECTIVE:The objective of this study was to identify and characterise pathogenic varian...

journal_title：Journal of medical genetics

authors： Hubert L,Cannata Serio M,Villoing-Gaudé L,Boddaert N,Kaminska A,Rio M,Lyonnet S,Munnich A,Poirier K,Simons M,Besmond C

更新日期：2020-02-01 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：:Two neonates with limb-body wall complex (LBWC) and complete absence of the external genitalia are presented. Our patients are the sixth and seventh cases of complete absence of the external genitalia recorded in English publications and the first two cases associated with LBWC. The incidence of complete absence of th...

journal_title：Journal of medical genetics

authors： Litwin A,Merlob P,Grunebaum M

更新日期：1988-05-01 00:00:00

abstract：BACKGROUND:Four genetic causes of isolated congenital central hypothyroidism (CeH) have been identified, but many cases remain unexplained. We hypothesised the existence of other genetic causes of CeH with a Mendelian inheritance pattern. METHODS:We performed exome sequencing in two families with unexplained isolated ...

journal_title：Journal of medical genetics

authors： Heinen CA,de Vries EM,Alders M,Bikker H,Zwaveling-Soonawala N,van den Akker ELT,Bakker B,Hoorweg-Nijman G,Roelfsema F,Hennekam RC,Boelen A,van Trotsenburg ASP,Fliers E

更新日期：2018-10-01 00:00:00

abstract：BACKGROUND:Fryns syndrome (FS) is the commonest autosomal recessive syndrome in which congenital diaphragmatic hernia (CDH) is a cardinal feature. It has been estimated that 10% of patients with CDH have FS. The autosomal recessive inheritance in FS contrasts with the sporadic inheritance for the majority of patients w...

journal_title：Journal of medical genetics

authors： Slavotinek A,Lee SS,Davis R,Shrit A,Leppig KA,Rhim J,Jasnosz K,Albertson D,Pinkel D

更新日期：2005-09-01 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: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：PURPOSE:Adoptees are a population that could benefit from genetic testing to fill gaps in family health history (FHH). Elective genomic testing (EGT) provides adoptees with clinical genetic testing options to learn about genetic health risks in the absence of FHH. We assessed adoptees' interests in, motivations for and...

journal_title：Journal of medical genetics

authors： Edgar J,Bao A,Maga T,Schwartz M,Yates C,Spencer S

更新日期：2020-12-21 00:00:00

abstract：:Two cases are reported of patients with deletions of chromosome 5q. Both have familial adenomatous polyposis (FAP) and mild mental retardation. In both, macroscopic polyposis was confined to the proximal colon in adult life (in their thirties) although microscopic adenomatosis was shown in the more distal colon with o...

journal_title：Journal of medical genetics

authors： Hodgson SV,Coonar AS,Hanson PJ,Cottrell S,Scriven PN,Jones T,Hawley PR,Wilkinson ML

更新日期：1993-05-01 00:00:00

abstract：:A family is described in which the mother's four pregnancies resulted in one spontaneous abortion, one healthy boy, and a male and female sib with developmental delay and multiple minor dysmorphic features. Chromosome analysis showed a large pericentric inversion of chromosome 10, involving the region between bands p1...

journal_title：Journal of medical genetics

authors： Roberts P,Williams J,Sills MA

更新日期：1989-07-01 00:00:00

abstract：BACKGROUND:Because the mitochondrial respiratory chain (RC) is ubiquitous, its deficiency can theoretically give rise to any symptom in any organ or tissue at any age with any mode of inheritance, owing to the twofold genetic origin of respiratory enzyme machinery, that is, nuclear and mitochondrial. Not all respirator...

journal_title：Journal of medical genetics

authors： de Beaurepaire I,Grévent D,Rio M,Desguerre I,de Lonlay P,Levy R,Dangouloff-Ros V,Bonnefont JP,Barcia G,Funalot B,Besmond C,Metodiev MD,Ruzzenente B,Assouline Z,Munnich A,Rötig A,Boddaert N

更新日期：2018-06-01 00:00:00

abstract：BACKGROUND:Clinical evaluation of CNVs identified via techniques such as array comparative genome hybridisation (aCGH) involves the inspection of lists of known and unknown duplications and deletions with the goal of distinguishing pathogenic from benign CNVs. A key step in this process is the comparison of the individ...

journal_title：Journal of medical genetics

authors： Köhler S,Schoeneberg U,Czeschik JC,Doelken SC,Hehir-Kwa JY,Ibn-Salem J,Mungall CJ,Smedley D,Haendel MA,Robinson PN

更新日期：2014-11-01 00:00:00

abstract：:The development of inexpensive high throughput methods to identify individual DNA sequence differences is important to the future growth of medical genetics. This has become increasingly apparent as epidemiologists, pathologists, and clinical geneticists focus more attention on the molecular basis of complex multifact...

journal_title：Journal of medical genetics

authors： Hacia JG,Collins FS

更新日期：1999-10-01 00:00:00

abstract：BACKGROUND:Acrocallosal syndrome (ACLS) is a rare recessive disorder characterised by corpus callosum agenesis or hypoplasia, craniofacial dysmorphism, duplication of the hallux, postaxial polydactyly, and severe mental retardation. Recently, we identified mutations in KIF7, a key component of the Sonic hedgehog pathwa...

journal_title：Journal of medical genetics

authors： Putoux A,Nampoothiri S,Laurent N,Cormier-Daire V,Beales PL,Schinzel A,Bartholdi D,Alby C,Thomas S,Elkhartoufi N,Ichkou A,Litzler J,Munnich A,Encha-Razavi F,Kannan R,Faivre L,Boddaert N,Rauch A,Vekemans M,Attié-Bitac

更新日期：2012-11-01 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：BACKGROUND:Infantile-onset encephalopathy and hypertrophic cardiomyopathy caused by mitochondrial oxidative phosphorylation defects are genetically heterogeneous with defects involving both the mitochondrial and nuclear genomes. OBJECTIVE:To identify the causative genetic defect in two sisters presenting with lethal i...

journal_title：Journal of medical genetics

authors： Spiegel R,Saada A,Flannery PJ,Burté F,Soiferman D,Khayat M,Eisner V,Vladovski E,Taylor RW,Bindoff LA,Shaag A,Mandel H,Schuler-Furman O,Shalev SA,Elpeleg O,Yu-Wai-Man P

更新日期：2016-02-01 00:00:00

abstract：:Familial adenomatous polyposis (FAP) is characterised by hundreds of colorectal adenomas. Endocrine neoplasms have occasionally been reported, as have gastric polyps, which are usually hamartomatous in the fundus of the stomach and adenomatous in the antrum. A 57 year old man with colorectal, gastric, and periampullar...

journal_title：Journal of medical genetics

authors： Kartheuser A,Walon C,West S,Breukel C,Detry R,Gribomont AC,Hamzehloei T,Hoang P,Maiter D,Pringot J,Rahier J,Khan PM,Curtis A,Burn J,Fodde R,Verellen-Dumoulin C

更新日期：1999-01-01 00:00:00

abstract：:A two generation family with neurofibromatosis type 2 (NF2) is presented in which a family member requested presymptomatic molecular diagnosis. Since the consultand's mother had clinically well defined NF2, he was quoted to be at 50% risk of carrying an NF2 mutation. Mutation screening in the mother did not show the c...

journal_title：Journal of medical genetics

authors： Bijlsma EK,Wallace AJ,Evans DG

更新日期：1997-11-01 00:00:00

abstract：:A 13-year-old girl sought medical advice, saying that for two years it had been increasingly difficult for her to extend her little finger. An examination revealed that all her fingers, with the exception of her thumbs, had no interphalangeal fold. Her mother had less pronounced signs of the same type. This abnormalit...

journal_title：Journal of medical genetics

authors： Lambert D,Nivelon-Chevallier A,Chapuis JL

更新日期：1977-12-01 00:00:00

abstract：:To sibs and an unrelated single patient have a combination of iris coloboma, ptosis, hypertelorism, broad nasal bridge, short stature, and mental retardation. The London Dysmorphology Database was used to determine whether this is a new syndrome. ...

journal_title：Journal of medical genetics

authors： Baraitser M,Winter RM

更新日期：1988-01-01 00:00:00

abstract：CONTEXT:In hereditary cancer syndrome families with an identified cancer associated mutation, mutation testing changes the carrier risk status of the tested person and may change the carrier risk status of relatives. OBJECTIVE:This study aimed to describe the change in the distribution of carrier risk status resulting...

journal_title：Journal of medical genetics

authors： Watson P,Narod SA,Fodde R,Wagner A,Lynch JF,Tinley ST,Snyder CL,Coronel SA,Riley B,Kinarsky Y,Lynch HT

更新日期：2003-08-01 00:00:00