Refined mapping of a gene for split hand-split foot malformation (SHFM3) on chromosome 10q25.

abstract：:A large body of data on segregating families is used to generate specific recurrence risks conditional on sex and birth order for the best-fitting model of polygenes plus maternal effect. The method is general for diseases of complex inheritance, and lies within the competence of any serious genetic clinic. The questi...

journal_title：Journal of medical genetics

authors： Lalouel JM,Morton NE,MacLean CJ,Jackson J

更新日期：1977-12-01 00:00:00

abstract：BACKGROUND:DLG5 p.R30Q has been reported to be associated with Crohn disease (CD), but this association has not been replicated in most studies. A recent analysis of gender-stratified data from two case-control studies and two population cohorts found an association of DLG5 30Q with increased risk of CD in men but not ...

journal_title：Journal of medical genetics

authors： Browning BL,Annese V,Barclay ML,Bingham SA,Brand S,Büning C,Castro M,Cucchiara S,Dallapiccola B,Drummond H,Ferguson LR,Ferraris A,Fisher SA,Gearry RB,Glas J,Henckaerts L,Huebner C,Knafelz D,Lakatos L,Lakatos PL,La

更新日期：2008-01-01 00:00:00

abstract：:We have performed an extensive analysis of TP53 in 474 French families suggestive of Li-Fraumeni syndrome (LFS), including 232 families fulfilling the Chompret criteria. We identified a germline alteration of TP53 in 82 families (17%), in 67/232 of the families fulfilling the Chompret criteria (29%) and in 15/242 whic...

journal_title：Journal of medical genetics

authors： Bougeard G,Sesboüé R,Baert-Desurmont S,Vasseur S,Martin C,Tinat J,Brugières L,Chompret A,de Paillerets BB,Stoppa-Lyonnet D,Bonaïti-Pellié C,Frébourg T,French LFS working group.

更新日期：2008-08-01 00:00:00

abstract：BACKGROUND:Segmental duplications at breakpoints (BP4-BP5) of chromosome 15q13.2q13.3 mediate a recurrent genomic imbalance syndrome associated with mental retardation, epilepsy, and/or electroencephalogram (EEG) abnormalities. PATIENTS:DNA samples from 1445 unrelated patients submitted consecutively for clinical arra...

journal_title：Journal of medical genetics

authors： Miller DT,Shen Y,Weiss LA,Korn J,Anselm I,Bridgemohan C,Cox GF,Dickinson H,Gentile J,Harris DJ,Hegde V,Hundley R,Khwaja O,Kothare S,Luedke C,Nasir R,Poduri A,Prasad K,Raffalli P,Reinhard A,Smith SE,Sobeih MM,S

更新日期：2009-04-01 00:00:00

abstract：:Abnormalities of dystrophin, the sarcoglycans, and laminin alpha2 are responsible for a subset of the muscular dystrophies. In this study we aim to characterise the nature and frequency of abnormalities of these proteins in an Australian population and to formulate an investigative algorithm to aid in approaching the ...

journal_title：Journal of medical genetics

authors： Jones KJ,Kim SS,North KN

更新日期：1998-05-01 00:00:00

abstract：:DNA from 20 Italian haemophilia B patients was analysed by the Southern blotting technique and hybridisation to a factor IX cDNA probe. A large deletion of factor IX gene was detected in one patient with antibodies to the infused factor; the EcoRI pattern of the other 19 subjects examined was normal. ...

journal_title：Journal of medical genetics

authors： Bernardi F,del Senno L,Barbieri R,Buzzoni D,Gambari R,Marchetti G,Conconi F,Panicucci F,Positano M,Pitruzzello S

更新日期：1985-08-01 00:00:00

abstract：:C9orf72 repeat expansions is a major cause of familial frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) worldwide. Sizes of <20 hexanucleotide repeats are observed in controls, while up to thousands associate with disease. Intermediate C9orf72 repeat lengths, however, remain uncertain. We systemat...

journal_title：Journal of medical genetics

authors： Ng ASL,Tan EK

更新日期：2017-09-01 00:00:00

abstract：:The 64Cu incorporation into uncloned fibroblast cultures from 16 Menkes disease mothers and 19 first and second degree female relatives was examined. The mean incorporation for the Menkes disease mothers (36.2 +/- 3.6 SEM) differed significantly from that of 25 normal subjects (21.7 +/- 0.9 SEM) suggesting the presenc...

journal_title：Journal of medical genetics

authors： Horn N

更新日期：1980-08-01 00:00:00

abstract：:A girl aged 14 years 9 months, overweight, with severe psychomotor retardation, short stature, a sheep-like face, malformed ears, skeletal and dermatoglyphic abnormalities, and partial deletion of the short arm of chromosome 1 is presented. The karyotype was 46,XX,del(1)(qter to p22::p32 to pter). ...

journal_title：Journal of medical genetics

authors： Bene M,Duca-Marinescu A,Ioan D,Maximilian C

更新日期：1979-08-01 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：:The long-term decline in the incidence of the neural tube malformations, anencephaly and spina bifida (ASB), ended in the mid-1950's in New York State. Since that time, the rate of these birth defects has remained between 1 and 1.5/1000 births. In this low incidence population, we tested the basic tenets which support...

journal_title：Journal of medical genetics

authors： Janerich DT,Piper J

更新日期：1978-04-01 00:00:00

abstract：:We have analysed 40 marker loci on 13 chromosomes for linkage with Marfan syndrome. None of the loci was linked to the Marfan syndrome locus at theta = 0.00. This study provides a basis for an exclusion map and for further collaboration in mapping of the locus. ...

journal_title：Journal of medical genetics

authors： Schwartz RC,Blanton SH,Hyde CA,Sottile TR Jr,Hudgins L,Sarfarazi M,Tsipouras P

更新日期：1990-02-01 00:00:00

abstract：:This paper describes the coexistence of genetically determined reduced cholinesterase activity and congenital distichiasis in the same family. The pedigree suggests that these two autosomal dominant diseases are segregated independently and do not show evidence of linkage. ...

journal_title：Journal of medical genetics

authors： Shammas HF,Tabbara KF,der Kaloustian VM

更新日期：1976-12-01 00:00:00

abstract：BACKGROUND:Hypertrophic cardiomyopathy (HCM) is frequently fatal in infancy. Mitochondrial disease causing infantile HCM is characterised by extreme biochemical and genetic heterogeneity, but deficiency of respiratory chain complex I is observed relatively frequently. Identification of the precise genetic basis has pro...

journal_title：Journal of medical genetics

authors： Fassone E,Taanman JW,Hargreaves IP,Sebire NJ,Cleary MA,Burch M,Rahman S

更新日期：2011-10-01 00:00:00

abstract：:Usher syndrome is an autosomal recessive disorder characterised by retinitis pigmentosa and congenital sensorineural hearing loss. A gene for Usher syndrome type II (USH2) has been localised to chromosome 1q32-q41. DNA from a family with four of seven sibs affected with clinical characteristics of Usher syndrome type ...

journal_title：Journal of medical genetics

authors： Pieke Dahl S,Kimberling WJ,Gorin MB,Weston MD,Furman JM,Pikus A,Möller C

更新日期：1993-10-01 00:00:00

abstract：:It has recently been emphasised that a subset of patients with type 2 Gaucher disease die in the neonatal period. This report describes an Afghani family with two conceptuses having severe, prenatally detected Gaucher disease. Mutational analysis showed that the family carried a known complex allele which included mut...

journal_title：Journal of medical genetics

authors： Sidransky E,Tayebi N,Stubblefield BK,Eliason W,Klineburgess A,Pizzolato GP,Cox JN,Porta J,Bottani A,DeLozier-Blanchet CD

更新日期：1996-02-01 00:00:00

abstract：:The fragile X mental retardation syndrome is caused by unstable expansion of a CGG repeat. Two main types of mutation have been categorised. Clinical expression is associated with the presence of the full mutation, while subjects who carry only a premutation do not have mental retardation. Premutations have a high ris...

journal_title：Journal of medical genetics

authors： Heitz D,Devys D,Imbert G,Kretz C,Mandel JL

更新日期：1992-11-01 00:00:00

abstract：BACKGROUND:The 5α-reductase type 2 (5α-RD2) deficiency caused by mutations in the steroid 5α-reductase 2 (SRD5A2) gene results in variable degrees of undervirilisation in patients with 46,XY disorders of sex development. This study aims to profile the regional distribution and phenotype-genotype characteristics of SRD5...

journal_title：Journal of medical genetics

authors： Gui B,Song Y,Su Z,Luo FH,Chen L,Wang X,Chen R,Yang Y,Wang J,Zhao X,Fan L,Liu X,Wang Y,Chen S,Gong C

更新日期：2019-10-01 00:00:00

abstract：:True isochromosomes for Xp probably do not exist in a liveborn. We describe a rare case of complete Xp duplication and retention of the inactivation centre at Xq13. Cytogenetically, it is described as a nonmosaic 46,X,psu idic(X)(q13). Complete duplication of Xpter-->Xq13 was confirmed by banded analysis and FISH prob...

journal_title：Journal of medical genetics

authors： Jalal SM,Dahl R,Erickson L,Zimmerman D,Lindor N

更新日期：1996-03-01 00:00:00

abstract：:Fetal akinesia refers to a broad spectrum of disorders in which the unifying feature is a reduction or lack of fetal movement. Fetal akinesias may be caused by defects at any point along the motor system pathway including the central and peripheral nervous system, the neuromuscular junction and the muscle, as well as ...

journal_title：Journal of medical genetics

authors： Ravenscroft G,Sollis E,Charles AK,North KN,Baynam G,Laing NG

更新日期：2011-12-01 00:00:00

abstract：:Glucocerebroside beta-glucosidase (glucocerebrosidase) activity was determined from peripheral blood lymphocytes and cultured skin fibroblasts of eight full sibs in a French-Canadian family at risk for Gaucher disease, an autosomal recessive sphingolipidosis resulting from deficient glucocerebrosidase activity. The di...

journal_title：Journal of medical genetics

authors： Choy FY

更新日期：1988-05-01 00:00:00

abstract：:BACKGROUND Mutations in SCN1A can cause genetic epilepsy with febrile seizures plus (GEFS+, inherited missense mutations) or Dravet syndrome (DS, de novo mutations of all types). Although the mutational spectra are distinct, these disorders share major features and 10% of DS patients have an inherited SCN1A mutation. ...

journal_title：Journal of medical genetics

authors： Depienne C,Trouillard O,Gourfinkel-An I,Saint-Martin C,Bouteiller D,Graber D,Barthez-Carpentier MA,Gautier A,Villeneuve N,Dravet C,Livet MO,Rivier-Ringenbach C,Adam C,Dupont S,Baulac S,Héron D,Nabbout R,Leguern E

更新日期：2010-06-01 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：:Idiopathic torsion dystonia (ITD) has long been considered to be genetically determined, but the pattern of inheritance has been unclear. It has been suggested that inheritance may differ in Jews and non-Jews. In the present study, data gathered in a nationwide survey of ITD in Israel were analysed. Between 1969 and 1...

journal_title：Journal of medical genetics

authors： Zilber N,Korczyn AD,Kahana E,Fried K,Alter M

更新日期：1984-02-01 00:00:00

abstract：:The macrophage resistance gene NRAMP1 regulates priming/activation of macrophages for enhanced TNF alpha, IL 1 beta, and MHC class II expression. Since all of these functions are of potential importance in the induction or maintenance or both of autoimmune disease, samples from the Arthritis and Rheumatism Council's r...

journal_title：Journal of medical genetics

authors： Shaw MA,Clayton D,Atkinson SE,Williams H,Miller N,Sibthorpe D,Blackwell JM

更新日期：1996-08-01 00:00:00

abstract：:We describe a patient with the unusual association of cleft palate, bilateral choanal atresia, curly hair, and congenital hypothyroidism. This association has been reported before in two brothers and may represent a new syndrome. ...

journal_title：Journal of medical genetics

authors： Buntincx IM,Van Overmeire B,Desager K,Van Hauwaert J

更新日期：1993-05-01 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：BACKGROUND:The melanocortin-4-receptor gene (MC4R) is part of the melanocortinergic pathway that controls energy homeostasis. In a recent meta-analysis, the MC4R V103I (rs2229616) polymorphism was shown to be associated with body weight regulation. Although no functional differences between the isoleucine comprising re...

journal_title：Journal of medical genetics

authors： Heid IM,Vollmert C,Hinney A,Döring A,Geller F,Löwel H,Wichmann HE,Illig T,Hebebrand J,Kronenberg F,KORA Group.

更新日期：2005-04-01 00:00:00

abstract：BACKGROUND:There are few empirical data to inform the debate surrounding the use and regulation of direct-to-consumer (DTC) genome-wide disease risk tests. This study aimed to determine the long term psychological, behavioural, and clinical impacts of genomic risk testing for common disease. METHODS:The Scripps Genomi...

journal_title：Journal of medical genetics

authors： Bloss CS,Wineinger NE,Darst BF,Schork NJ,Topol EJ

更新日期：2013-06-01 00:00:00

abstract：:In type I familial amyloid polyneuropathy (FAP) caused by a variant Met30-transthyretin (TTR), genetic anticipation has been reported. To determine whether anticipation of the disease is a true biological phenomenon or the result of ascertainment bias, we compared age at onset of the affected child with that of the af...

journal_title：Journal of medical genetics

authors： Yamamoto K,Ikeda S,Hanyu N,Takeda S,Yanagisawa N

更新日期：1998-01-01 00:00:00