Porencephalic cyst in pycnodysostosis.

abstract：:The association of maternal uniparental disomy for chromosome 7 and postnatal growth failure has been reported in four cases and suggests the presence of genomic imprinting of one or more growth related genes on chromosome 7. However, in the reported cases, the possibility of homozygosity for a recessive mutation coul...

journal_title：Journal of medical genetics

authors： Langlois S,Yong SL,Wilson RD,Kwong LC,Kalousek DK

更新日期：1995-11-01 00:00:00

abstract：:Floating-Harbor syndrome (FHS) is a rare human disease characterised by delayed bone mineralisation and growth deficiency, often associated with mental retardation and skeletal and craniofacial abnormalities. FHS was first described at Boston's Floating Hospital 42 years ago, but the causative gene, called Srcap, was ...

journal_title：Journal of medical genetics

authors： Messina G,Atterrato MT,Dimitri P

更新日期：2016-12-01 00:00:00

abstract：:We present a male infant with hypertelorism, severe myopia and sensorineural deafness, diaphragmatic hernia, and proteinuria. This patient combines features of two distinct genetic conditions, the syndrome of diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness (M...

journal_title：Journal of medical genetics

authors： Devriendt K,Standaert L,Van Hole C,Devlieger H,Fryns JP

更新日期：1998-01-01 00:00:00

abstract：BACKGROUND:Smith-Magenis syndrome (SMS) is caused by del(17)(p11.2), including the retinoic acid induced 1 gene (RAI1), or mutation of RAI1. Haploinsufficiency of RAI1 results in developmental delay, mental retardation, sleep disturbance, self-abusive behaviors, and most features commonly seen in SMS. In this study, 52...

journal_title：Journal of medical genetics

authors： Williams SR,Girirajan S,Tegay D,Nowak N,Hatchwell E,Elsea SH

更新日期：2010-04-01 00:00:00

abstract：:Angelman syndrome (AS) and Prader-Willi syndrome (PWS) have become the classical examples of genomic imprinting in man, as completely different phenotypes are generated by the absence of maternal (AS) or paternal (PWS) contributions to the q11-13 region of chromosome 15 as a result of deletion or uniparental disomy. A...

journal_title：Journal of medical genetics

authors： Meijers-Heijboer EJ,Sandkuijl LA,Brunner HG,Smeets HJ,Hoogeboom AJ,Deelen WH,van Hemel JO,Nelen MR,Smeets DF,Niermeijer MF

更新日期：1992-12-01 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：:Two sisters are described with a disorder characterised by mental retardation, congenital cataract, progressive spinocerebellar ataxia, sensorineural deafness, and signs of peripheral neuropathy. Progressive hearing loss, ataxia, and polyneuropathy became evident in the third decade. The differential diagnosis of this...

journal_title：Journal of medical genetics

authors： Begeer JH,Scholte FA,van Essen AJ

更新日期：1991-12-01 00:00:00

abstract：:Patients affected with progressive myoclonus epilepsy of the Lafora type present during late adolescence with a characteristic EEG pattern and Lafora bodies seen on skin biopsy. The critical region for the Lafora gene has been localised to chromosome 6q24 flanked by the dinucleotide repeat markers D6S292 and D6S420. T...

journal_title：Journal of medical genetics

authors： Maddox LO,Descartes M,Collins J,Keating J,Rosenfeld S,Palmer C,Carroll AJ,Kuzniecky R

更新日期：1997-07-01 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：: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：BACKGROUND:We report here clinical, cytogenetic and molecular data for a pair of monochorionic diamniotic twins with paternal isodisomy for chromosome 19. Both twins presented with dysmorphic features and global developmental delay. This represents, to our knowledge, the first individual human case of paternal uniparen...

journal_title：Journal of medical genetics

authors： Yeung KS,Ho MSP,Lee SL,Kan ASY,Chan KYK,Tang MHY,Mak CCY,Leung GKC,So PL,Pfundt R,Marshall CR,Scherer SW,Choufani S,Weksberg R,Hon-Yin Chung B

更新日期：2018-12-01 00:00:00

abstract：:Approximately 5%-10% of breast cancers are due to genetic predisposition caused by germline mutations; the most commonly tested genes are BRCA1 and BRCA2 mutations. Some mutations are unique to one family and others are recurrent; the spectrum of BRCA1/BRCA2 mutations varies depending on the geographical origins, popu...

journal_title：Journal of medical genetics

authors： Kwong A,Shin VY,Ho JC,Kang E,Nakamura S,Teo SH,Lee AS,Sng JH,Ginsburg OM,Kurian AW,Weitzel JN,Siu MT,Law FB,Chan TL,Narod SA,Ford JM,Ma ES,Kim SW

更新日期：2016-01-01 00:00:00

abstract：:Advances in technology have led to a massive expansion in the capacity for genomic analysis, with a commensurate fall in costs. The clinical indications for genomic testing have evolved markedly; the volume of clinical sequencing has increased dramatically; and the range of clinical professionals involved in the proce...

journal_title：Journal of medical genetics

authors： Garrett A,Callaway A,Durkie M,Cubuk C,Alikian M,Burghel GJ,Robinson R,Izatt L,Talukdar S,Side L,Cranston T,Palmer-Smith S,Baralle D,Berry IR,Drummond J,Wallace AJ,Norbury G,Eccles DM,Ellard S,Lalloo F,Evans DG,W

更新日期：2020-12-01 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：BACKGROUND:Progeroid syndromes are genetic disorders that recapitulate some phenotypes of physiological ageing. Classical progerias, such as Hutchinson-Gilford progeria syndrome (HGPS), are generally caused by mutations in LMNA leading to accumulation of the toxic protein progerin and consequently, to nuclear envelope ...

journal_title：Journal of medical genetics

authors： Soria-Valles C,Carrero D,Gabau E,Velasco G,Quesada V,Bárcena C,Moens M,Fieggen K,Möhrcken S,Owens M,Puente DA,Asensio Ó,Loeys B,Pérez A,Benoit V,Wuyts W,Lévy N,Hennekam RC,De Sandre-Giovannoli A,López-Otín C

更新日期：2016-11-01 00:00:00

abstract：:This report describes a retarded girl with strabismus, high arched palate, antimongoloid slant, low set ears, hearing loss, micrognathia, short neck, and an anteriorly displaced anus. She was found to have a de novo partial trisomy of the proximal part of the long arm of chromosome 15. ...

journal_title：Journal of medical genetics

authors： Herweijer TJ,Oorthuys JW,Leschot NJ

更新日期：1988-04-01 00:00:00

abstract：:A family with von Hippel-Lindau disease (VHL) type 2A has been shown to have a T to C missense mutation at nucleotide 547 of the VHL gene. This gives further support for the proposal to associate the 547 T to C mutation with phenotype VHL 2A. ...

journal_title：Journal of medical genetics

authors： Chen F,Slife L,Kishida T,Mulvihill J,Tisherman SE,Zbar B

更新日期：1996-08-01 00:00:00

abstract：:Twenty-six patients with Gaucher's disease diagnosed in the United Kingdom and two obligate carriers, all of non-Jewish origin, were screened for the two common disease causing mutations and two rarer mutations in the glucocerebrosidase gene. These mutations are referred to as N370S, L444P, Ins84G, and 1066 + 1G-->A, ...

journal_title：Journal of medical genetics

authors： Walley AJ,Barth ML,Ellis I,Fensom AH,Harris A

更新日期：1993-04-01 00:00:00

abstract：:Germline mutations in four human mismatch repair genes (MSH2, MLH1, PMS1, and PMS2) have been reported to cause hereditary non-polyposis colon cancer syndrome (HNPCC). The identification of germline mutations in HNPCC kindreds allows precise diagnosis and accurate predictive testing. To investigate further the genetic...

journal_title：Journal of medical genetics

authors： Froggatt NJ,Brassett C,Koch DJ,Evans DG,Hodgson SV,Ponder BA,Maher ER

更新日期：1996-09-01 00:00:00

abstract：AIM:To determine whether, following predictive genetic testing for familial adenomatous polyposis (FAP), children or adults receiving positive results experience clinically significant levels of anxiety or depression, and whether children receiving positive results experience higher levels of anxiety or depression than...

journal_title：Journal of medical genetics

authors： Michie S,Bobrow M,Marteau TM

更新日期：2001-08-01 00:00:00

abstract：BACKGROUND:Gene-targeting studies in mice have revealed a key role for EVI1 protein in the maintenance of haematopoiesis, and argue in favour of a gene dosage requirement for EVI1 in the regulation of haematopoietic stem cells. Furthermore, a fusion transcript of MDS1 and EVI1 has been shown to play a critical role in ...

journal_title：Journal of medical genetics

authors： Nielsen M,Vermont CL,Aten E,Ruivenkamp CA,van Herrewegen F,Santen GW,Breuning MH

更新日期：2012-09-01 00:00:00

abstract：BACKGROUND:Holoprosencephaly (HPE), the most common malformation of the human forebrain, may result from mutations in over 12 genes. Sonic Hedgehog (SHH) was the first such gene discovered; mutations in SHH remain the most common cause of non-chromosomal HPE. The severity spectrum is wide, ranging from incompatibility ...

journal_title：Journal of medical genetics

authors： Solomon BD,Bear KA,Wyllie A,Keaton AA,Dubourg C,David V,Mercier S,Odent S,Hehr U,Paulussen A,Clegg NJ,Delgado MR,Bale SJ,Lacbawan F,Ardinger HH,Aylsworth AS,Bhengu NL,Braddock S,Brookhyser K,Burton B,Gaspar H,Gr

更新日期：2012-07-01 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：: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：:A family study of hidradenitis suppurativa was undertaken based on 26 subjects with the disease. The probands were obtained from Hospital Activity Analysis (HAA) records for a three year period (1980 to 1983) and by direct referral from hospital specialists over a six month period (1983 to 1984). Family pedigree infor...

journal_title：Journal of medical genetics

authors： Fitzsimmons JS,Guilbert PR

更新日期：1985-10-01 00:00:00

abstract：:Seven patients with congenital cutis laxa are presented. The associated features include developmental delay, joint laxity, wide anterior fontanelle, growth retardation, dental caries, and osteopenia. The heterogeneity and inheritance of congenital cutis laxa are discussed. This particular syndrome appears distinct an...

journal_title：Journal of medical genetics

authors： Patton MA,Tolmie J,Ruthnum P,Bamforth S,Baraitser M,Pembrey M

更新日期：1987-09-01 00:00:00

abstract：:This is a study of 138 index patients with retinitis pigmentosa (RP) and their families, in which the selection of index patients was solely on the basis of their residence in Birmingham. Clinical analysis showed that severe disease was as likely to indicate dominant or non-genetic RP as to indicate recessive disease,...

journal_title：Journal of medical genetics

authors： Bundey S,Crews SJ

更新日期：1984-12-01 00:00:00

abstract：:We report on three Dutch children with a clinical diagnosis of oculoauriculovertebral spectrum (OAVS) and hydrocephalus. The clinical features are compared to 15 published cases of OAVS and hydrocephalus. Several other cerebral abnormalities were present in the whole group. About half of the cases had cleft lip/palate...

journal_title：Journal of medical genetics

authors： Schrander-Stumpel CT,de Die-Smulders CE,Hennekam RC,Fryns JP,Bouckaert PX,Brouwer OF,da Costa JJ,Lommen EJ,Maaswinkel-Mooy PD

更新日期：1992-05-01 00:00:00

abstract：:A brother and two sisters of remotely consanguineous parents had congenital laryngeal abductor paralysis and moderate mental retardation. In the two older sibs, mental deficiency could have resulted from birth asphyxia, but the youngest girl was already microcephalic at birth and had no apparent asphyxia. The mother, ...

journal_title：Journal of medical genetics

authors： Schinzel A,Hof E,Dangel P,Robinson W

更新日期：1990-11-01 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