Karyomapping: a universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes.

abstract：BACKGROUND:Primary ovarian insufficiency (POI) affects 1% of women under 40 years and is a public health problem. The genetic causes of POI are highly heterogeneous with isolated or syndromic forms. Recently, variants in genes involved in DNA repair have been shown to cause POI. Notably, syndromic POI with Fanconi anae...

journal_title：Journal of medical genetics

authors： Caburet S,Heddar A,Dardillac E,Creux H,Lambert M,Messiaen S,Tourpin S,Livera G,Lopez BS,Misrahi M

更新日期：2020-06-01 00:00:00

abstract：:The accidental discovery, in an inguinal hernia, of a male gonad in a 67-year-old woman is reported. The association of an unambiguous female phenotype with a purely male karyotype and a male gonad suggests the diagnosis of testicular feminisation. The differential diagnosis, particularly of testicular feminisation wi...

journal_title：Journal of medical genetics

authors： Schindler AM,Csank-Brassert J

更新日期：1978-06-01 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：BACKGROUND:Four genetic causes of isolated congenital central hypothyroidism (CeH) have been identified, but many cases remain unexplained. We hypothesised the existence of other genetic causes of CeH with a Mendelian inheritance pattern. METHODS:We performed exome sequencing in two families with unexplained isolated ...

journal_title：Journal of medical genetics

authors： Heinen CA,de Vries EM,Alders M,Bikker H,Zwaveling-Soonawala N,van den Akker ELT,Bakker B,Hoorweg-Nijman G,Roelfsema F,Hennekam RC,Boelen A,van Trotsenburg ASP,Fliers E

更新日期：2018-10-01 00:00:00

abstract：:We report two patients with suspected hereditary liability to pressure palsies. Neurophysiological studies showed a mixed axonal-demyelinating sensory-motor polyneuropathy with focal slowing of conduction velocities at the common sites of entrapment. Morphological studies on sural nerve biopsy from the proband showed ...

journal_title：Journal of medical genetics

authors： Sessa M,Nemni R,Quattrini A,Del Carro U,Wrabetz L,Canal N

更新日期：1997-11-01 00:00:00

abstract：:Various heteromorphisms of the 9q heterochromatic area have been reported. In most instances, the extra G positive band is accompanied by an extra C band. We describe a family where the extra G band is totally euchromatic and does not include an extra C band. It is not clear whether these two types of variant chromoso...

journal_title：Journal of medical genetics

authors： Knight LA,Soon GM,Tan M

更新日期：1993-07-01 00:00:00

abstract：:A cohort of 33 people at risk for Huntington's disease (HD), applying for genetic testing, were tested with a battery of neuropsychological tests covering attentional, visuospatial, learning, memory, and planning functions. A psychiatric rating scale, SCL-90R, was also applied, mainly as a control, since cognitive dys...

journal_title：Journal of medical genetics

authors： Rosenberg NK,Sørensen SA,Christensen AL

更新日期：1995-08-01 00:00:00

abstract：BACKGROUND:Junctional epidermolysis bullosa (JEB), a group of hereditary skin fragility disorders, is associated with a wide variety of phenotypes, although all forms are characterised by trauma induced skin blistering and tissue separation at the dermal-epidermal junction zone. A subgroup, coined JEB-other, is associa...

journal_title：Journal of medical genetics

authors： Kiritsi D,Kern JS,Schumann H,Kohlhase J,Has C,Bruckner-Tuderman L

更新日期：2011-07-01 00:00:00

abstract：:A Brazilian family of Italian descent is described in which the beta-thalassaemia gene is interacting with an alpha chain variant Hb Hasharon (alpha 47 Asp leads to His). One patient who was affected by homozygous beta 0-thalassaemia and heterozygous alpha Hasharon displayed the clinical picture of thalassaemia interm...

journal_title：Journal of medical genetics

authors： Zago MA,Costa FF,Bottura C

更新日期：1982-12-01 00:00:00

abstract：:Chromosome and enzyme determinations were performed in 250 pregnancies between the 7th and the 12th week of gestation. The majority of the tests were performed for risk of chromosomal abnormalities and 75% of the women were 35 years old or more. We describe a chorionic villi sampling (CVS) technique which proved to be...

journal_title：Journal of medical genetics

authors： Brambati B,Simoni G,Danesino C,Oldrini A,Ferrazzi E,Romitti L,Terzoli G,Rossella F,Ferrari M,Fraccaro M

更新日期：1985-04-01 00:00:00

abstract：INTRODUCTION:We report a 34-year-old Japanese female with a Silver-Russell syndrome (SRS)-like phenotype and a mosaic Turner syndrome karyotype (45,X/46,XX). METHODS/RESULTS:Molecular studies including methylation analysis of 17 differentially methylated regions (DMRs) on the autosomes and the XIST-DMR on the X chromo...

journal_title：Journal of medical genetics

authors： Yamazawa K,Nakabayashi K,Kagami M,Sato T,Saitoh S,Horikawa R,Hizuka N,Ogata T

更新日期：2010-11-01 00:00:00

abstract：:Two half sibs with bilateral complete cleft lip and complete cleft of the palate associated with ectrodactyly of the hands and feet, born to the same phenotypically normal mother, are reported. The younger of the two sibs also has dominantly inherited tremors (also referred to as essential heredofamilial tremors) as d...

journal_title：Journal of medical genetics

authors： Lewis MB,Pashayan HM

更新日期：1981-10-01 00:00:00

abstract：:Two patients with partial monosomy of the short arm of chromosome 8 are described. Their clinical features were very similar. Comparison with previously reported patients confirms the existence of an 8p- syndrome. The importance of cytogenetic investigations in all infants with major congenital heart defect and facial...

journal_title：Journal of medical genetics

authors： Bröcker-Vriends AH,Mooij PD,van Bel F,Beverstock GC,van de Kamp JJ

更新日期：1986-04-01 00:00:00

abstract：:A child with ambiguous genitalia, brought up phenotypically male, had a 46,XX/46,XY karyotype. At laparotomy, he had a left sided ovary and uterus, and a right sided scrotal testis. The 46,XX line made up 50% of cells in the blood and 90% of cells in a skin biopsy. There were no cytogenetic polymorphisms. Analysis of ...

journal_title：Journal of medical genetics

authors： Green AJ,Barton DE,Jenks P,Pearson J,Yates JR

更新日期：1994-10-01 00:00:00

abstract：BACKGROUND:Recessive forms of osteogenesis imperfecta (OI) may be caused by mutations in LEPRE1, encoding prolyl 3-hydroxylase-1 (P3H1) or in CRTAP, encoding cartilage associated protein. These proteins constitute together with cyclophilin B (CyPB) the prolyl 3-hydroxylation complex that hydroxylates the Pro986 residue...

journal_title：Journal of medical genetics

authors： Willaert A,Malfait F,Symoens S,Gevaert K,Kayserili H,Megarbane A,Mortier G,Leroy JG,Coucke PJ,De Paepe A

更新日期：2009-04-01 00:00:00

abstract：:Adrenal hypoplasia congenita (AHC) can occur due to deletions or mutations in the DAX 1 (NR0B1) gene on the X chromosome (OMIM 300200). This form of AHC is therefore predominantly seen in boys. Deletion of the DAX 1 gene can also be part of a larger contiguous deletion including the centromeric dystrophin and glycerol...

journal_title：Journal of medical genetics

authors： Shaikh MG,Boyes L,Kingston H,Collins R,Besley GT,Padmakumar B,Ismayl O,Hughes I,Hall CM,Hellerud C,Achermann JC,Clayton PE

更新日期：2008-09-01 00:00:00

abstract：:A majority of cystic fibrosis (CF) genes (70 to 75%) share a single mutation, but the remaining 25 to 30% of defects are accounted for by more than 20 different mutations. One of the less frequent mutations, G551D, has been identified in the CF genes of two sibs and one unrelated adult patient. The adult patient also ...

journal_title：Journal of medical genetics

authors： Curtis A,Nelson R,Porteous M,Burn J,Bhattacharya SS

更新日期：1991-01-01 00:00:00

abstract：BACKGROUND:Usher syndrome, a devastating recessive disorder which combines hearing loss with retinitis pigmentosa, is clinically and genetically heterogeneous. Usher syndrome type 1 (USH1) is the most severe form, characterised by profound congenital hearing loss and vestibular dysfunction. OBJECTIVE:To describe an ef...

journal_title：Journal of medical genetics

authors： Roux AF,Faugère V,Le Guédard S,Pallares-Ruiz N,Vielle A,Chambert S,Marlin S,Hamel C,Gilbert B,Malcolm S,Claustres M,French Usher Syndrome Collaboration.

更新日期：2006-09-01 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：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：:The structure of the locus encoding the major cartilage collagen gene (COL2A1) was studied in a total of 19 cases of achondroplasia. No gross rearrangements were seen. The segregation of COL2A1 was examined in three affected kindreds using restriction site and length variants as genetic markers. In two kindreds discor...

journal_title：Journal of medical genetics

authors： Ogilvie D,Wordsworth P,Thompson E,Sykes B

更新日期：1986-02-01 00:00:00

abstract：:We report concordant male monozygotic twins with congenital short femur (proximal focal femoral deficiency) and discuss the aetiological implications. Coincidentally, they and their father have benign familial macrocephaly. ...

journal_title：Journal of medical genetics

authors： Connor JM,Rae PS,Connor RA

更新日期：1986-08-01 00:00:00

abstract：BACKGROUND:Fabry disease is characterised by the progressive accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids in vascular endothelial cells. Enzyme replacement therapy (ERT) clears this accumulation. We analysed plasma proteome profiles before and after ERT to characterise its molecular pathol...

journal_title：Journal of medical genetics

authors： Heo SH,Kang E,Kim YM,Go H,Kim KY,Jung JY,Kang M,Kim GH,Kim JM,Choi IH,Choi JH,Jung SC,Desnick RJ,Yoo HW,Lee BH

更新日期：2017-11-01 00:00:00

abstract：:Published reports on the sex ratio of spina bifida have been reviewed. With one exception, there seems to be no evidence of variation in the sex ratio of spina bifida. In particular, unlike anencephaly, the sex ratio of spina bifida seems to be unrelated to the prevalence of the malformation: this (M/(M+F)) is of the ...

journal_title：Journal of medical genetics

authors： James WH

更新日期：1979-10-01 00:00:00

abstract：:Hereditary multiple exostoses (HME) is a genetically heterogeneous autosomal dominant disorder characterised by the development of bony protuberances mainly located on the long bones. Three HME loci have been mapped to chromosomes 8q24 (EXT1), 11p11-13 (EXT2), and 19p (EXT3). The EXT1 and EXT2 genes encode glycosyltra...

journal_title：Journal of medical genetics

authors： Francannet C,Cohen-Tanugi A,Le Merrer M,Munnich A,Bonaventure J,Legeai-Mallet L

更新日期：2001-07-01 00:00:00

abstract：BACKGROUND:A recent genetic study in mice and humans revealed the modulatory effect of MC1R (melanocortin-1 receptor) gene variants on kappa-opioid receptor mediated analgesia. It is unclear whether this gene affects basal pain sensitivity or the efficacy of analgesics acting at the more clinically relevant mu-opioid r...

journal_title：Journal of medical genetics

authors： Mogil JS,Ritchie J,Smith SB,Strasburg K,Kaplan L,Wallace MR,Romberg RR,Bijl H,Sarton EY,Fillingim RB,Dahan A

更新日期：2005-07-01 00:00:00

abstract：:The detailed clinical features and progress of a child with homozygous alpha 2(I) collagen deficiency are described. Clinically, the disease presents as severe progressive Sillence type III osteogenesis imperfecta. The main biochemical defect is the synthesis of an abnormal pro alpha 2(I) chain which does not associat...

journal_title：Journal of medical genetics

authors： Nicholls AC,Osse G,Schloon HG,Lenard HG,Deak S,Myers JC,Prockop DJ,Weigel WR,Fryer P,Pope FM

更新日期：1984-08-01 00:00:00

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：BACKGROUND:Selection for genetic testing of BRCA1/BRCA2 is an important area of healthcare. Although testing costs for mutational analysis are falling, costs in North America remain in excess of US$3000 (UK price can be 690 pounds). Guidelines in most countries use a 10-20% threshold of detecting a mutation in BRCA1/2 ...

journal_title：Journal of medical genetics

authors： Evans DG,Lalloo F,Cramer A,Jones EA,Knox F,Amir E,Howell A

更新日期：2009-12-01 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