Ocular colobomata, cardiac defect, and other anomalies: a study of seven cases including two sibs.

abstract：:A case of severe craniosynostosis-radial aplasia (Baller-Gerold) syndrome is described in a newborn male, following a pregnancy complicated by polyhydramnios and intrauterine growth retardation. Death occurred after two hours owing to a prolonged apnoeic spell. Extensive agenesis of the frontal and parietal bones, res...

journal_title：Journal of medical genetics

authors： Van Maldergem L,Verloes A,Lejeune L,Gillerot Y

更新日期：1992-04-01 00:00:00

abstract：:The cap capacity in nine Duchenne muscular dystrophy (DMD) patients and in 23 healthy male subjects (14 adults and nine neonates) has been investigated by inducing capping of HLA molecules. The evaluation of capping percentages ranged in healthy controls from 44 to 61 with a mean value of 53.39 +/- 4.89, while DMD pat...

journal_title：Journal of medical genetics

authors： Sensi A,Venturoli A,Traniello S,Lucci M,Vullo C,Conighi C,Mattiuz PL,Båricordi OR

更新日期：1984-06-01 00:00:00

abstract：:Eighty-six women fulfilling specific selection criteria were studied for germline mutations in two breast cancer susceptibility genes, BRCA1 and BRCA2, using the protein truncation test (PTT). Nine germline mutations were identified, six in BRCA1 and three in BRCA2. Of the six BRCA1 mutations, three have previously be...

journal_title：Journal of medical genetics

authors： Garvin AM,Attenhofer-Haner M,Scott RJ

更新日期：1997-12-01 00:00:00

abstract：PURPOSE:To determine a gene locus for a family with a dominantly inherited vestibulocerebellar disorder characterised by early onset, but not congenital nystagmus. DESIGN:Observational and experimental study. METHODS:We carried out a phenotypic study of a unique four generation family with nystagmus. We performed gen...

journal_title：Journal of medical genetics

authors： Ragge NK,Hartley C,Dearlove AM,Walker J,Russell-Eggitt I,Harris CM

更新日期：2003-01-01 00:00:00

abstract：:We report an 18 year old female with a de novo ring chromosome 3 found after investigation for short stature. Her karyotype was interpreted as 46,XX, r(3)(p26.2q29). Her phenotype is milder than previously reported cases and illustrates the mild end of the spectrum of the ring chromosome 3 phenotype. ...

journal_title：Journal of medical genetics

authors： McKinley M,Colley A,Sinclair P,Donnai D,Andrews T

更新日期：1991-08-01 00:00:00

abstract：:A sequential silver-Giemsa (SG) procedure is presented, initially to stain the p11 and q11 euchromatic bands and subsequently the q12 heterochromatic band of the human Y chromosomes. A three sub-band division of the q11 band can be identified. The same technique differentially stains the secondary constriction of chro...

journal_title：Journal of medical genetics

authors： Goyanes VJ

更新日期：1980-12-01 00:00:00

abstract：:Five single nucleotide polymorphisms (SNPs) associated with thyroid cancer (TC) risk have been reported: rs2910164 (5q24); rs6983267 (8q24); rs965513 and rs1867277 (9q22); and rs944289 (14q13). Most of these associations have not been replicated in independent populations and the combined effects of the SNPs on risk h...

journal_title：Journal of medical genetics

authors： Jones AM,Howarth KM,Martin L,Gorman M,Mihai R,Moss L,Auton A,Lemon C,Mehanna H,Mohan H,Clarke SE,Wadsley J,Macias E,Coatesworth A,Beasley M,Roques T,Martin C,Ryan P,Gerrard G,Power D,Bremmer C,TCUKIN Consortium.

更新日期：2012-03-01 00:00:00

abstract：BACKGROUND:HLA-DRB1 is the strongest susceptibility gene to rheumatoid arthritis (RA). HLA-DRB1 alleles showed significant non-additive and interactive effects on susceptibility to RA in the European population, but these effects on RA susceptibility should vary between populations due to the difference in allelic dist...

journal_title：Journal of medical genetics

authors： Terao C,Okada Y,Ikari K,Kochi Y,Suzuki A,Ohmura K,Matsuo K,Taniguchi A,Kubo M,Raychaudhuri S,Yamamoto K,Yamanaka H,Kamatani Y,Mimori T,Matsuda F

更新日期：2017-12-01 00:00:00

abstract：BACKGROUND:Structural variants (SVs) affecting non-coding cis-regulatory elements are a common cause of congenital limb malformation. Yet, the functional interpretation of these non-coding variants remains challenging. The human Liebenberg syndrome is characterised by a partial transformation of the arms into legs and ...

journal_title：Journal of medical genetics

authors： Kragesteen BK,Brancati F,Digilio MC,Mundlos S,Spielmann M

更新日期：2019-04-01 00:00:00

abstract：:Albright hereditary osteodystrophy (AHO) is an autosomal dominant disorder characterised by the presence of brachymetaphalangism, short stature, obesity, and mental retardation. Variable biochemical changes many represent either pseudohypoparathyroidism (PHP) owing to resistance to parathormone (PTH) or pseudopseudohy...

journal_title：Journal of medical genetics

authors： Power MM,James RS,Barber JC,Fisher AM,Wood PJ,Leatherdale BA,Flanagan DE,Hatchwell E

更新日期：1997-04-01 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：:This report presents the detection of a heterozygous deletion at chromosome 12q14 in three unrelated patients with a similar phenotype consisting of mild mental retardation, failure to thrive in infancy, proportionate short stature and osteopoikilosis as the most characteristic features. In each case, this interstitia...

journal_title：Journal of medical genetics

authors： Menten B,Buysse K,Zahir F,Hellemans J,Hamilton SJ,Costa T,Fagerstrom C,Anadiotis G,Kingsbury D,McGillivray BC,Marra MA,Friedman JM,Speleman F,Mortier G

更新日期：2007-04-01 00:00:00

abstract：:DIDMOAD is usually considered an autosomal recessive condition, with wide phenotypic variation, but the possibility of mitochondrial mutations occurring in this condition has been considered. A 19 year old man presented with long standing diabetes mellitus, optic atrophy, and grand mal seizures. Further investigations...

journal_title：Journal of medical genetics

authors： Pilz D,Quarrell OW,Jones EW

更新日期：1994-04-01 00:00:00

abstract：:A total of 102 families with Duchenne muscular dystrophy has been studied with linked DNA polymorphisms as an aid to estimating carrier risks for female relatives. Early work using probes RC8, L1.28, and pXUT23 gave very little clinically useful information because of the high recombination rates between these probes ...

journal_title：Journal of medical genetics

authors： Read AP,Kerzin-Storrar L,Mountford RC,Elles RG,Harris R

更新日期：1986-12-01 00:00:00

abstract：:Osteogenesis imperfecta (OI) is characterised by brittle bones and caused by mutations in the type I collagen genes, COL1A1 and COL1A2. We identified a mutation in the carboxyl-terminal propeptide coding region of one COL1A1 allele in an infant who died with an OI phenotype that differed from the usual lethal form and...

journal_title：Journal of medical genetics

authors： Pace JM,Chitayat D,Atkinson M,Wilcox WR,Schwarze U,Byers PH

更新日期：2002-01-01 00:00:00

abstract：:We report three sisters and their father with a reciprocal balanced translocation, rcp t(8;11)(q24.3;p15.1) and the same abnormal phenotypes, including mental retardation, growth disturbance, and amblyopia. It is considered that the abnormal phenotypes in our four cases might result from a tiny deletion or gene mutati...

journal_title：Journal of medical genetics

authors： Sato H,Takaya K,Nihira S,Fujita H

更新日期：1989-10-01 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：:The chiasma distribution of bivalents 15 and 16 identified at diakinesis by a quadruple staining technique including DA-DAPI fluorescence has been investigated in two human males. The study has shown that chiasmata are not distributed at random. Both chromosomes have distally localised chiasmata, but in the long arm o...

journal_title：Journal of medical genetics

authors： Saadallah N,Hultén M

更新日期：1983-08-01 00:00:00

abstract：:Batten disease is the most common progressive neurodegenerative disorder of childhood in western countries. A novel cDNA responsible for Batten disease has recently been identified. We have developed a rapid diagnostic solid phase minisequencing test to detect the major 1.02 kb deletion which is responsible for 81% of...

journal_title：Journal of medical genetics

authors： Järvelä I,Mitchison HM,Munroe PB,O'Rawe AM,Mole SE,Syvänen AC

更新日期：1996-12-01 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：:We describe a case of pycnodysostosis with porencephaly and suggest an explanation for the porencephaly by a mechanism of imbalance between brain growth and its vascular supply and a normal but unopposed cerebrospinal fluid pressure. ...

journal_title：Journal of medical genetics

authors： Figueiredo J,Reis A,Vaz R,Leáo M,Cruz C

更新日期：1989-12-01 00:00:00

abstract：:A syndrome of brachydactyly (absence of some middle or distal phalanges), aplastic or hypoplastic nails, symphalangism (ankylois of proximal interphalangeal joints), synostosis of some carpal and tarsal bones, craniosynostosis, and dysplastic hip joints is reported in five members of an Italian family. It may represen...

journal_title：Journal of medical genetics

authors： Ventruto V,Di Girlamo R,Festa B,Romano A,Sebastio G,Sebastio L

更新日期：1976-10-01 00:00:00

abstract：:Studies of migraine with aura (MA) have shown familial aggregation of the disorder, which cannot be explained by simple mendelian inheritance. The interest in a genetic basis for the disorder has increased after identification of three genetic loci for familial hemiplegic migraine (FHM), which is a rare subtype of MA ...

journal_title：Journal of medical genetics

authors： Ulrich V,Gervil M,Kyvik KO,Olesen J,Russell MB

更新日期：1999-03-01 00:00:00

abstract：BACKGROUND:Inherited disorders of fibrinogen are rare and affect either the quantity (hypofibrinogenaemia and afibrinogenaemia) or the quality of the circulating fibrinogen (dysfibrinogenaemia). Extensive allelic heterogeneity has been found for all three disorders: in congenital afibrinogenaemia >30 mutations, the maj...

journal_title：Journal of medical genetics

authors： Vu D,de Moerloose P,Batorova A,Lazur J,Palumbo L,Neerman-Arbez M

更新日期：2005-09-01 00:00:00

abstract：:Fetal hypokinesia or akinesia encompasses a broad spectrum of disorders, united by impaired movement in utero. Often, the underlying aetiology is genetic in origin, affecting part of the neuromuscular system. The affordable and high-throughput nature of next-generation DNA sequencing has led to an explosion in disease...

journal_title：Journal of medical genetics

authors： Beecroft SJ,Lombard M,Mowat D,McLean C,Cairns A,Davis M,Laing NG,Ravenscroft G

更新日期：2018-08-01 00:00:00

abstract：:Although a seasonal trend in the birth distribution has been reported in cystic fibrosis (CF), this finding is still very controversial. The birth distribution of 113 patients with cystic fibrosis born in Saguenay-Lac-St-Jean (complete ascertainment) was analysed using two different statistical methods. Our results sh...

journal_title：Journal of medical genetics

authors： Daigneault J,Aubin G,Simard F,De Braekeleer M

更新日期：1991-09-01 00:00:00

abstract：:Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a tumour predisposition syndrome caused by heterozygous germline mutations in the fumarate hydratase (FH) gene. The condition is characterised by predisposition to benign leiomyomas of the skin and the uterus, renal cell carcinoma (RCC), and uterine leiomyosar...

journal_title：Journal of medical genetics

authors： Lehtonen HJ,Kiuru M,Ylisaukko-Oja SK,Salovaara R,Herva R,Koivisto PA,Vierimaa O,Aittomäki K,Pukkala E,Launonen V,Aaltonen LA

更新日期：2006-06-01 00:00:00

abstract：:Dominantly inherited osteogenesis imperfecta is consistently linked to the two loci encoding the alpha 1 and alpha 2 subunits of collagen 1, the predominant bone collagen. We have performed several prenatal diagnoses based on identification of the segregating allele at the concordant locus in chorionic villus samples ...

journal_title：Journal of medical genetics

authors： Lynch JR,Ogilvie D,Priestley L,Baigrie C,Smith R,Farndon P,Sykes B

更新日期：1991-03-01 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：:We report on a boy with a maternal uniparental disomy for chromosome 14 (UPD(14)). At 7 years of age he was referred to us by the paediatrician because of symptoms of Prader-Willi syndrome (PWS). He showed short stature, obesity, mild developmental delay, cryptorchidism, and some mild dysmorphic features. The history ...

journal_title：Journal of medical genetics

authors： Hordijk R,Wierenga H,Scheffer H,Leegte B,Hofstra RM,Stolte-Dijkstra I

更新日期：1999-10-01 00:00:00