Costello syndrome.

abstract：BACKGROUND:Distal hereditary motor neuronopathies (dHMN) are a group of genetic disorders characterised by motor neuron degeneration leading to muscle weakness that are caused by mutations in various genes. HMNJ is a distinct form of the disease that has been identified in patients from the Jerash region of Jordan. Our...

journal_title：Journal of medical genetics

authors： Ververis A,Dajani R,Koutsou P,Aloqaily A,Nelson-Williams C,Loring E,Arafat A,Mubaidin AF,Horany K,Bader MB,Al-Baho Y,Ali B,Muhtaseb A,DeSpenza T Jr,Al-Qudah AA,Middleton LT,Zamba-Papanicolaou E,Lifton R,Christodoulou

更新日期：2020-03-01 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：:Fragile X syndrome, the main cause of inherited mental retardation, is caused by transcriptional silencing of the fragile X mental retardation gene, FMR1. Absence of the associated protein FMRP leads to the dysregulation of many genes creating a phenotype of ADHD, anxiety, epilepsy and autism. The core aim of this rev...

journal_title：Journal of medical genetics

authors： D'Hulst C,Kooy RF

更新日期：2009-09-01 00:00:00

abstract：:A boy presenting with an incomplete form of the acrocallosal syndrome is described. The syndrome shows clinical variability and it is stressed that none of the components is constant and facial dysmorphism is not always characteristic. ...

journal_title：Journal of medical genetics

authors： Turolla L,Clementi M,Tenconi R

更新日期：1990-08-01 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：BACKGROUND:Infertility affects approximately 15% of couples worldwide with male infertility being responsible for approximately 50% of cases. Although accumulating evidence demonstrates the critical role of the X chromosome in spermatogenesis during the last few decades, the expression patterns and potential impact of ...

journal_title：Journal of medical genetics

authors： Lu C,Zhang Y,Qin Y,Xu Q,Zhou R,Cui Y,Zhu Y,Zhang X,Zhang J,Wei X,Wang M,Hang B,Mao JH,Snijders AM,Liu M,Hu Z,Shen H,Zhou Z,Guo X,Wu X,Wang X,Xia Y

更新日期：2021-01-01 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：:Pericentric inversions in chromosome 2 were traced in 2 unrelated North American black families. In the case of inv(2)(p13q11) no effect on reproduction was observed. In the case of inv(2)(p11q13) some reproductive abnormalities were noted which might be related to the inversion. ...

journal_title：Journal of medical genetics

authors： Phillips RB

更新日期：1978-10-01 00:00:00

abstract：OBJECTIVE:Deficiency of α-galactosidase A (αGal-A) in Fabry disease leads to the accumulation mainly of globotriaosylceramide (GL3) in multiple renal cell types. Glomerular podocytes are relatively resistant to clearance of GL3 inclusions by enzyme replacement therapy (ERT). Migalastat, an orally bioavailable small mol...

journal_title：Journal of medical genetics

authors： Mauer M,Sokolovskiy A,Barth JA,Castelli JP,Williams HN,Benjamin ER,Najafian B

更新日期：2017-11-01 00:00:00

abstract：:Favism is a severe, acute haemolytic anaemia which occurs in about 20% of G6PD deficient subjects after ingestion of fava beans. Since not all G6PD deficient subjects are sensitive to fava beans, the possibility has been suggested that extra erythrocytic factors may play an important role in the susceptibility to haem...

journal_title：Journal of medical genetics

authors： Mareni C,Repetto L,Forteleoni G,Meloni T,Gaetani GF

更新日期：1984-08-01 00:00:00

abstract：:To test the hypothesis that epidermal rather than dermal mosaicism determines Blaschko's lines in hypomelanosis of Ito (HI), we studied the distribution of chromosomal mosaicism in four patients. In two, mosaicism had not been detected in lymphocytes or dermal fibroblasts, but was clearly shown in epidermal keratinocy...

journal_title：Journal of medical genetics

authors： Moss C,Larkins S,Stacey M,Blight A,Farndon PA,Davison EV

更新日期：1993-09-01 00:00:00

abstract：:​BACKGROUND: The clinical severity of disease in neurofibromatosis type 2 (NF2) is variable. Patients affected with a constitutional truncating NF2 mutation have severe disease, while missense mutations or mosaic mutations present with a milder attenuated phenotype. Genotype-derived natural history data are important ...

journal_title：Journal of medical genetics

authors： Halliday D,Emmanouil B,Pretorius P,MacKeith S,Painter S,Tomkins H,Evans DG,Parry A

更新日期：2017-10-01 00:00:00

abstract：:A male infant, partially trisomic for a small segment of chromosomes 6 and 22 resulting from a maternal translocation, is described. Comparison of the phenotypic features of the proband with those noted in partial 6p and partial 22 trisomies revealed some common features found in both chromosome anomalies but especial...

journal_title：Journal of medical genetics

authors： Scarbrough PR,Carroll AJ,Finley SC,Hamerick K

更新日期：1986-04-01 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：: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：:Cleidocranial dysplasia (CCD) (MIM 119600) is an autosomal dominant skeletal dysplasia characterised by abnormal clavicles, patent sutures and fontanelles, supernumerary teeth, short stature, and a variety of other skeletal changes. The disease gene has been mapped to chromosome 6p21 within a region containing CBFA1, ...

journal_title：Journal of medical genetics

authors： Mundlos S

更新日期：1999-03-01 00:00:00

abstract：:This paper describes a genetically male infant with impaired male sex development and partial 9p monosomy. The external genitalia were ambiguous with microphallus (penile length at birth 10 mm, mean age matched normal length 29 mm (SD 5)), hypospadias, and hypoplastic scrotum. The tests were undescended and severely h...

journal_title：Journal of medical genetics

authors： Ogata T,Muroya K,Matsuo N,Hata J,Fukushima Y,Suzuki Y

更新日期：1997-04-01 00:00:00

abstract：BACKGROUND:The clinical phenotype of CDH1 pathogenic variant carriers has mostly been studied in families that fulfil criteria of hereditary diffuse gastric cancer (HDGC). We aimed at determining cancer phenotype and cancer risk estimation among families with CDH1 pathogenic variants not selected by HDGC clinical crite...

journal_title：Journal of medical genetics

authors： Xicola RM,Li S,Rodriguez N,Reinecke P,Karam R,Speare V,Black MH,LaDuca H,Llor X

更新日期：2019-12-01 00:00:00

abstract：:Cowden syndrome, or the multiple hamartoma syndrome, is a familial cancer syndrome with involvement of various organ systems. Inheritance is autosomal dominant with variable expression. Progressive macrocephaly, scrotal tongue, and mild to moderate mental retardation are important signs indicating the syndrome in youn...

journal_title：Journal of medical genetics

authors： Hanssen AM,Fryns JP

更新日期：1995-02-01 00:00:00

abstract：BACKGROUND AND OBJECTIVE:In clinical settings with fixed resources allocated to predictive genetic testing for high-risk cancer predisposition genes, optimal strategies for mutation screening programmes are critically important. These depend on the mutation spectrum found in the population under consideration and the f...

journal_title：Journal of medical genetics

authors： Simard J,Dumont M,Moisan AM,Gaborieau V,Malouin H,Durocher F,Chiquette J,Plante M,Avard D,Bessette P,Brousseau C,Dorval M,Godard B,Houde L,INHERIT BRCAs.,Joly Y,Lajoie MA,Leblanc G,Lépine J,Lespérance B,Vézina H,

更新日期：2007-02-01 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

abstract：BACKGROUND:Spontaneous read-through of a premature termination codon (PTC) has so far not been observed in patients carrying nonsense mutations. This report describes a patient with junctional epidermolysis bullosa who was expected to die because of compound heterozygous nonsense mutations in the gene LAMA3 (R943X/R115...

journal_title：Journal of medical genetics

authors： Pacho F,Zambruno G,Calabresi V,Kiritsi D,Schneider H

更新日期：2011-09-01 00:00:00

abstract：BACKGROUND:Clubfoot is a common congenital birth defect with complex inheritance patterns. Currently, the genetic and morphological basis of clubfoot is poorly understood. To identify genetic risk factors associated with clubfoot, we performed a genome-wide association study of common genetic variants. METHODS:The DNA...

journal_title：Journal of medical genetics

authors： Zhang TX,Haller G,Lin P,Alvarado DM,Hecht JT,Blanton SH,Stephens Richards B,Rice JP,Dobbs MB,Gurnett CA

更新日期：2014-05-01 00:00:00

abstract：:A malformed female infant is described. In addition to cardiac, renal, and skeletal (rib) anomalies, severe intrauterine growth retardation and distinct facial dysmorphism were present. The question is raised whether this child represents a new syndrome. ...

journal_title：Journal of medical genetics

authors： de Die-Smulders CE,Droog RP,van Dijk M,Fryns JP

更新日期：1993-06-01 00:00:00

abstract：:A 3-month-old male infant with type I Klein-Waardenburg syndrome with an imperforated anus and a perineal fistula is reported. The possible association of this gastrointestinal malformation with the KW syndrome is discussed. ...

journal_title：Journal of medical genetics

authors： Nutman J,Nissenkorn I,Varsano I,Mimouni M,Goodman RM

更新日期：1981-06-01 00:00:00

abstract：:A rapid PCR based assay was used to ascertain the presence of maternal cell contamination (MCC) in amniotic fluid cell cultures and to exclude MCC in cases where cytogenetic analysis was possible only from one primary cell culture. Six 6-carboxyfluorescein (FAM) and three 6-carboxyfluorescein hexachloride (HEX) labell...

journal_title：Journal of medical genetics

authors： Smith GW,Graham CA,Nevin J,Nevin NC

更新日期：1995-01-01 00:00:00

abstract：BACKGROUND:Clefts of the lip and palate are common birth defects, affecting approximately 1 in 700 births worldwide. The aetiology of clefting is complex, with multiple genetic and environmental influences. METHODS:Genotype based linkage disequilibrium analysis was conducted using the family based association test (FB...

journal_title：Journal of medical genetics

authors： Warrington A,Vieira AR,Christensen K,Orioli IM,Castilla EE,Romitti PA,Murray JC

更新日期：2006-06-01 00:00:00

abstract：:Placental lead levels were studied in a series of Birmingham births classified by stillbirth, neonatal death, or survival beyond one week. There was an appreciable range of lead levels even in normal births (0.15-3.56 microgram/g) but nevertheless average results showed a pronounced excess of lead in those who failed ...

journal_title：Journal of medical genetics

authors： Wibberley DG,Khera AK,Edwards JH,Rushton DI

更新日期：1977-10-01 00:00:00

abstract：BACKGROUND:Hyperparathyroidism is a common endocrinopathy characterised by the formation of parathyroid tumours. In this study, we determine the role of the recently identified gene, HRPT2, in parathyroid tumorigenesis. METHODS:Mutation analysis of HRPT2 was undertaken in 60 parathyroid tumours: five HPT-JT, three FIH...

journal_title：Journal of medical genetics

authors： Howell VM,Haven CJ,Kahnoski K,Khoo SK,Petillo D,Chen J,Fleuren GJ,Robinson BG,Delbridge LW,Philips J,Nelson AE,Krause U,Hammje K,Dralle H,Hoang-Vu C,Gimm O,Marsh DJ,Morreau H,Teh BT

更新日期：2003-09-01 00:00:00

abstract：:A Newfoundland kindred in which ocular albinism and deutan colour blindness are segregating provides strong evidence against the loci for these two X-borne characters being within direct measurable distance of each other. ...

journal_title：Journal of medical genetics

authors： Pearce WG,Sanger R

更新日期：1976-08-01 00:00:00