Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome.

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：:In this paper the costs and benefits associated with DNA diagnosis of subjects who are at risk of having a child with a monogenic disease and who seek genetic counselling because of their reproductive plans are predicted under various assumptions using a mathematical model. Four monogenic diseases have been considered...

journal_title：Journal of medical genetics

authors： van der Riet AA,van Hout BA,Rutten FF

更新日期：1997-09-01 00:00:00

abstract：:Treacher Collins syndrome is an autosomal dominant disorder of facial development, the features of which include conductive hearing loss and cleft palate. In the current investigation, linkage analysis has been used to make first trimester diagnostic predictions in a pregnancy at high risk of producing an affected chi...

journal_title：Journal of medical genetics

authors： Edwards SJ,Fowlie A,Cust MP,Liu DT,Young ID,Dixon MJ

更新日期：1996-07-01 00:00:00

abstract：:An apparently autosomal recessive syndrome of congenital renal tubular dysplasia and skull ossification defects is described in five infants from two separate, consanguineous, Pakistani Muslim kindreds. The clinical, pathological, and radiological features are similar to the phenotype associated with fetal exposure to...

journal_title：Journal of medical genetics

authors： Kumar D,Moss G,Primhak R,Coombs R

更新日期：1997-07-01 00:00:00

abstract：:The observation of Campbell and Price in 1979 that their Unit had diagnosed four subjects with both Klinefelter's syndrome and congenital hypothyroidism raised the suspicion of an association between the two conditions. This, and the published reports of an XX male, five XXY males, and one mosaic XY/XXY with congenita...

journal_title：Journal of medical genetics

authors： Sarri C,Côté GB,Mengreli C,Lambadaridis I,Pantelakis S

更新日期：1988-04-01 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: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：:Girls and women with Turner syndrome are at risk for catastrophic aortic dissection and rupture, but the clinical profile for those at risk is not well described. In addition to reporting two new cases, we performed an electronic search to identify all reported cases of aortic dissection associated with Turner syndrom...

journal_title：Journal of medical genetics

authors： Carlson M,Silberbach M

更新日期：2007-12-01 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：BACKGROUND:In total, 43 patients having short stature syndrome in 37 Yakut families with autosomal recessive prenatal and postnatal nonprogressive growth failure and facial dysmorphism but with normal intelligence have been identified. METHODS:Because Yakuts are considered as a population isolate and the disease is ra...

journal_title：Journal of medical genetics

authors： Maksimova N,Hara K,Miyashia A,Nikolaeva I,Shiga A,Nogovicina A,Sukhomyasova A,Argunov V,Shvedova A,Ikeuchi T,Nishizawa M,Kuwano R,Onodera O

更新日期：2007-12-01 00:00:00

abstract：:The features of a child with Ehlers-Danlos syndrome type IV (EDS IV) resulting from a mutation in one COL3A1 allele were studied. The child was heterozygous for a G- to A-transition at the splice donor site of intron 41. It resulted in the splicing out of the exon 41 encoded sequence from alpha 1(III) mRNA and the del...

journal_title：Journal of medical genetics

authors： Sillence DO,Chiodo AA,Campbell PE,Cole WG

更新日期：1991-12-01 00:00:00

abstract：BACKGROUND:The SCN8A gene on chromosome 12q13 encodes the voltage gated sodium channel Na(v)1.6, which is widely expressed in neurons of the CNS and PNS. Mutations in the mouse ortholog of SCN8A result in ataxia and other movement disorders. METHODS:We screened the 26 coding exons of SCN8A in 151 patients with inherit...

journal_title：Journal of medical genetics

authors： Trudeau MM,Dalton JC,Day JW,Ranum LP,Meisler MH

更新日期：2006-06-01 00:00:00

abstract：BACKGROUND:Posterior polar cataract is a clinically distinctive opacity located at the back of the lens. It is commonly acquired in age related cataract, and may infrequently occur in pedigrees with congenital cataract. To date, five loci for autosomal dominant congenital posterior polar cataract have been identified. ...

journal_title：Journal of medical genetics

authors： Pras E,Mahler O,Kumar V,Frydman M,Gefen N,Pras E,Hejtmancik JF

更新日期：2006-10-01 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：:Respiratory chain complex I deficiency represents a genetically heterogeneous group of diseases resulting from mutations in mitochondrial or nuclear genes. Mutations have been reported in 13 of the 14 subunits encoding the core of complex I (seven mitochondrial and six nuclear genes) and these result in Leigh or Leigh...

journal_title：Journal of medical genetics

authors： Bénit P,Slama A,Cartault F,Giurgea I,Chretien D,Lebon S,Marsac C,Munnich A,Rötig A,Rustin P

更新日期：2004-01-01 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：:Tuberous sclerosis (TSC) is an autosomal dominant disorder characterised by tumour-like malformations (hamartomas) of the brain, skin, and other organs, often associated with seizures and learning disability. There is genetic heterogeneity with loci for TSC on chromosomes 9q34 (TSC1) and 16p13.3 (TSC2). The recently c...

journal_title：Journal of medical genetics

authors： Ali JB,Sepp T,Ward S,Green AJ,Yates JR

更新日期：1998-12-01 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：:An association of ocular colobomata and congenital heart disease was observed in seven patients. Two of these were maternal half sisters whose mother also had ocular colobomata. All the patients had normal karyotypes. There was a high incidence of other associated abnormalities involving the central nervous, skeletal,...

journal_title：Journal of medical genetics

authors： Ho CK,Kaufman RL,Podos SM

更新日期：1975-09-01 00:00:00

abstract：:In total, 200 families were reviewed with directly transmitted, cytogenetically visible unbalanced chromosome abnormalities (UBCAs) or euchromatic variants (EVs). Both the 130 UBCA and 70 EV families were divided into three groups depending on the presence or absence of an abnormal phenotype in parents and offspring. ...

journal_title：Journal of medical genetics

authors： Barber JC

更新日期：2005-08-01 00:00:00

abstract：BACKGROUND:DYNC1H1 encodes the heavy chain protein of the cytoplasmic dynein 1 motor protein complex that plays a key role in retrograde axonal transport in neurons. Furthermore, it interacts with the LIS1 gene of which haploinsufficiency causes a severe neuronal migration disorder in humans, known as classical lissenc...

journal_title：Journal of medical genetics

authors： Willemsen MH,Vissers LE,Willemsen MA,van Bon BW,Kroes T,de Ligt J,de Vries BB,Schoots J,Lugtenberg D,Hamel BC,van Bokhoven H,Brunner HG,Veltman JA,Kleefstra T

更新日期：2012-03-01 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：:Ehlers-Danlos syndrome (EDS) is a heterogeneous group of connective tissue disorders. Recently mutations have been found in the genes for type V collagen in a small number of people with the most common forms of EDS, types I and II. Here we characterise a COL5A2 mutation in an EDS II family. Cultured dermal fibroblast...

journal_title：Journal of medical genetics

authors： Richards AJ,Martin S,Nicholls AC,Harrison JB,Pope FM,Burrows NP

更新日期：1998-10-01 00:00:00

abstract：BACKGROUND:Primary pulmonary hypertension (PPH), resulting from occlusion of small pulmonary arteries, is a devastating condition. Mutations of the bone morphogenetic protein receptor type II gene (BMPR2), a component of the transforming growth factor beta (TGF-beta) family which plays a key role in cell growth, have r...

journal_title：Journal of medical genetics

authors： Thomson JR,Machado RD,Pauciulo MW,Morgan NV,Humbert M,Elliott GC,Ward K,Yacoub M,Mikhail G,Rogers P,Newman J,Wheeler L,Higenbottam T,Gibbs JS,Egan J,Crozier A,Peacock A,Allcock R,Corris P,Loyd JE,Trembath RC,Nic

更新日期：2000-10-01 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：:We report a 13 year old boy with fragile X syndrome resulting from a de novo deletion of the FMR1 and FMR2 genes extending from (and including) DXS7536 proximally to FMR2 distally. The patient has severe developmental delay, epilepsy, and behavioural difficulties, including autistic features. He has epicanthic folds, ...

journal_title：Journal of medical genetics

authors： Moore SJ,Strain L,Cole GF,Miedzybrodzka Z,Kelly KF,Dean JC

更新日期：1999-07-01 00:00:00

abstract：BACKGROUND:Over the last few years, array-comparative genomic hybridisation (CGH) has considerably improved our ability to detect cryptic unbalanced rearrangements in patients with syndromic mental retardation. METHOD:Molecular karyotyping of six patients with syndromic mental retardation was carried out using whole-g...

journal_title：Journal of medical genetics

authors： Le Meur N,Holder-Espinasse M,Jaillard S,Goldenberg A,Joriot S,Amati-Bonneau P,Guichet A,Barth M,Charollais A,Journel H,Auvin S,Boucher C,Kerckaert JP,David V,Manouvrier-Hanu S,Saugier-Veber P,Frébourg T,Dubourg C,Andr

更新日期：2010-01-01 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：: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：BACKGROUND:The cytokines tumour necrosis factor (TNF)alpha and interleukin (IL)10 have been implicated in the pathogenesis of Crohn's disease (CD), with increased concentrations reported in patients with active disease. However, limited data exist on their effects on disease phenotype in the same population. Certain si...

journal_title：Journal of medical genetics

authors： Fowler EV,Eri R,Hume G,Johnstone S,Pandeya N,Lincoln D,Templeton D,Radford-Smith GL

更新日期：2005-06-01 00:00:00