Crouzon syndrome is not linked to craniosynostosis loci at 7p and 5qter.

abstract：:We have reviewed all known UK cases of Smith-Lemli-Opitz syndrome. Among 49 cases with proven 7-dehydrocholesterol reductase deficiency, half had been terminated or had died in infancy. The minimum incidence is 1 in 60,000. The frequent occurrence of hypospadias may account for 71% of recognised cases being male. Impo...

journal_title：Journal of medical genetics

authors： Ryan AK,Bartlett K,Clayton P,Eaton S,Mills L,Donnai D,Winter RM,Burn J

更新日期：1998-07-01 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：:A 2-year-old boy with mental and growth retardation is presented; he has a 46,XY,r(10)(p15q26) chromosome complement. Five previously reported cases of ring chromosome 10 were reviewed and compared with the present case in an attempt to delineate a clinical syndrome. Since the first description, identified by Giemsa b...

journal_title：Journal of medical genetics

authors： Nakai H,Adachi M,Katsushima N,Yamazaki N,Sakamoto M,Tada K

更新日期：1983-04-01 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：:We present the first comprehensive study, to our knowledge, on genomic chromosomal analysis in syndromic craniosynostosis. In total, 45 patients with craniosynostotic disorders were screened with a variety of methods including conventional karyotype, microsatellite segregation analysis, subtelomeric multiplex ligation...

journal_title：Journal of medical genetics

authors： Jehee FS,Krepischi-Santos AC,Rocha KM,Cavalcanti DP,Kim CA,Bertola DR,Alonso LG,D'Angelo CS,Mazzeu JF,Froyen G,Lugtenberg D,Vianna-Morgante AM,Rosenberg C,Passos-Bueno MR

更新日期：2008-07-01 00:00:00

abstract：:Linkage of the anonymous marker D3S2 at 3p21 has been shown in three British families with dominant dystrophic epidermolysis bullosa with a combined lod score of 6.75 at theta = 0. This locus is close to the collagen type VII locus implying that abnormalities of this gene cause dominant dystrophic epidermolysis bullos...

journal_title：Journal of medical genetics

authors： al-Imara L,Richards AJ,Eady RA,Leigh IM,Farrall M,Pope FM

更新日期：1992-06-01 00:00:00

abstract：:We report on two brothers and one maternal cousin with severe mental retardation, microcephaly, short stature, cryptorchidism, and spastic diplegia. The patients were born to normal and non-consanguineous parents. All other members of the family, almost exclusively females, were clinically normal, suggesting X linked ...

journal_title：Journal of medical genetics

authors： Martínez F,Tomás M,Millán JM,Fernández A,Palau F,Prieto F

更新日期：1998-04-01 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:Agenesis of corpus callosum has been associated with several defects of the mitochondrial respiratory chain and the citric acid cycle. We now report the results of the biochemical and molecular studies of a patient with severe neurodevelopmental disease manifesting by agenesis of corpus callosum and optic ne...

journal_title：Journal of medical genetics

authors： Edvardson S,Porcelli V,Jalas C,Soiferman D,Kellner Y,Shaag A,Korman SH,Pierri CL,Scarcia P,Fraenkel ND,Segel R,Schechter A,Frumkin A,Pines O,Saada A,Palmieri L,Elpeleg O

更新日期：2013-04-01 00:00:00

abstract：BACKGROUND:The lethal short rib polydactyly syndromes (SRP type I-IV) are characterised by notably short ribs, short limbs, polydactyly, multiple anomalies of major organs, and autosomal recessive mode of inheritance. Among them, SRP type II (Majewski; MIM 263520) is characterised by short ovoid tibiae or tibial agenes...

journal_title：Journal of medical genetics

authors： El Hokayem J,Huber C,Couvé A,Aziza J,Baujat G,Bouvier R,Cavalcanti DP,Collins FA,Cordier MP,Delezoide AL,Gonzales M,Johnson D,Le Merrer M,Levy-Mozziconacci A,Loget P,Martin-Coignard D,Martinovic J,Mortier GR,Perez MJ

更新日期：2012-04-01 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：:A child with unilateral radial aplasia, asymmetry, other malformations, and severe physical and mental retardation is reported. In blood and bone marrow cultures a low mosaicism for trisomy 22 was found. In a few cells a chromosome 22 was missing. The importance of early cytogenetic analysis on large numbers of cells ...

journal_title：Journal of medical genetics

authors： Dulitzky F,Shabtal F,Zlotogora J,Halbrecht I,Elian E

更新日期：1981-12-01 00:00:00

abstract：BACKGROUND:Primary hereditary microcephaly (MCPH) comprises a large group of autosomal recessive disorders mainly affecting cortical development and resulting in a congenital impairment of brain growth. Despite the identification of >25 causal genes so far, it remains a challenge to distinguish between different MCPH f...

journal_title：Journal of medical genetics

authors： Nasser H,Vera L,Elmaleh-Bergès M,Steindl K,Letard P,Teissier N,Ernault A,Guimiot F,Afenjar A,Moutard ML,Héron D,Alembik Y,Momtchilova M,Milani P,Kubis N,Pouvreau N,Zollino M,Guilmin Crepon S,Kaguelidou F,Gressens P

更新日期：2020-06-01 00:00:00

abstract：:Huntington's disease (HD) is an autosomal dominant condition with almost complete penetrance. The age of onset of the symptoms, however, is variable and depends on the parental origin of the gene. A high proportion of early onset cases inherit the HD gene from their father, whereas a considerable proportion of late on...

journal_title：Journal of medical genetics

authors： Reik W

更新日期：1988-12-01 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：:A Familial Ovarian Cancer Register has been established which has recruited primarily through media publicity. In depth semi-structured interviews were carried out with 20 women who had volunteered in order to explore (1) knowledge about the disease, (2) motivations for contacting the Register, and (3) expectations. W...

journal_title：Journal of medical genetics

authors： Green J,Murton F,Statham H

更新日期：1993-07-01 00:00:00

abstract：:The vocabulary currently used to describe genetic variants and their consequences reflects many years of studying and discovering monogenic disease with high penetrance. With the recent rapid expansion of genetic testing brought about by wide availability of high-throughput massively parallel sequencing platforms, acc...

journal_title：Journal of medical genetics

authors： Spurdle AB,Greville-Heygate S,Antoniou AC,Brown M,Burke L,de la Hoya M,Domchek S,Dörk T,Firth HV,Monteiro AN,Mensenkamp A,Parsons MT,Radice P,Robson M,Tischkowitz M,Tudini E,Turnbull C,Vreeswijk MP,Walker LC,Tavtigi

更新日期：2019-06-01 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：:A child with the Tel Hashomer camptodactyly syndrome is reported. Although muscle weakness and hypoplasia are reported features of this syndrome, further investigation of muscle function has not previously been carried out. We report a raised creatine kinase and an abnormal electromyogram and muscle biopsy in this syn...

journal_title：Journal of medical genetics

authors： Patton MA,McDermot KD,Lake BD,Baraitser M

更新日期：1986-06-01 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：: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:A variety of abnormalities have been demonstrated at chromosome 11p15 in individuals with overgrowth and growth retardation. The identification of these abnormalities is clinically important but often technically difficult. Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) is a ...

journal_title：Journal of medical genetics

authors： Scott RH,Douglas J,Baskcomb L,Nygren AO,Birch JM,Cole TR,Cormier-Daire V,Eastwood DM,Garcia-Minaur S,Lupunzina P,Tatton-Brown K,Bliek J,Maher ER,Rahman N

更新日期：2008-02-01 00:00:00

abstract：:A family is recorded in which Duchenne's muscular dystrophy and protan colour blindness are segregating. Of 4 members of the second generation at least one is a recombinant. The lod scores have been calculated and added to those already published. ...

journal_title：Journal of medical genetics

authors： Greig DN

更新日期：1977-04-01 00:00:00

abstract：:Hereditary non-polyposis colon cancer (HNPCC) is a heterogeneous group of tumour predisposition syndromes caused by germline mutations in at least four different mismatch repair genes. HNPCC patients are prone to the development of carcinomas of the intestinal tract and other specific sites. Identification of presumpt...

journal_title：Journal of medical genetics

authors： Kraus C,Kastl S,Günther K,Klessinger S,Hohenberger W,Ballhausen WG

更新日期：1999-12-01 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：:The features of a child with osteogenesis imperfecta type III (OI III) resulting from the heterozygous substitution of glycine 1006 by alanine in the pro alpha 2(I) chain of type I procollagen were studied. He was born at term with the clinical features of severe OI, including deep grey-blue sclerae. He had severe ost...

journal_title：Journal of medical genetics

authors： Cole WG,Lam TP

更新日期：1996-03-01 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：:Since the advent of C-banding as a routine diagnostic procedure, the significance of heterochromatic polymorphism has been questioned. Some workers have considered variations in heterochromatin in chromosomes 1 and 9 to be associated with fetal wastage, recurrent abortions, and abnormal phenotypes. Over a 15-month per...

journal_title：Journal of medical genetics

authors： Hemming L,Burns C

更新日期：1979-10-01 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：:X inactivation studies have been carried out on 22 pairs of female monozygotic twins, one set of female monozygotic triplets, and their mothers and singleton sisters, using the probe M27 beta. Forty-eight per cent of the twins, 55% of their mothers, and 42% of their singleton sisters showed skewed X inactivation. Two ...

journal_title：Journal of medical genetics

authors： Watkiss E,Webb T,Rysiecki G,Girdler N,Hewett E,Bundey S

更新日期：1994-10-01 00:00:00