A proven de novo germline mutation in HNPCC.

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：:The first Scottish family with pycnodysostosis is reported. The clinical and radiological findings in the two affected men are recorded. ...

journal_title：Journal of medical genetics

authors： Mills KL,Johnston AW

更新日期：1988-08-01 00:00:00

abstract：OBJECTIVE:To establish national clinical guidelines and integrated care pathways for five conditions (tuberous sclerosis (TS), Huntington's disease (HD), myotonic dystrophy (MD), neurofibromatosis type 1 (NF1), and Marfan syndrome (MS)) and audit their use in Scotland. DESIGN:Systematic review of published reports fol...

journal_title：Journal of medical genetics

authors： Campbell H,Bradshaw N,Davidson R,Dean J,Goudie D,Holloway S,Porteous M

更新日期：2000-09-01 00:00:00

abstract：:The frequency of chromosome aberrations in the lymphocytes of three established heterozygotes for the Bloom's syndrome gene (ages 67, 57, 46) was compared to that in controls (ages 68, 67, 61, 46, 34). The main part of the study was done on coded slides. No difference was found between the heterozygotes and the contro...

journal_title：Journal of medical genetics

authors： Kuhn EM,Therman E

更新日期：1979-06-01 00:00:00

abstract：:Using DNA samples obtained from two unrelated patients, diagnosed as having familial dysalbuminaemic hyperthyroxinaemia (FDH), exons 1-14 which span the entire coding region of the human serum albumin (HSA) gene were amplified by the polymerase chain reaction. The sequence of each of the 14 DNA fragments was then dete...

journal_title：Journal of medical genetics

authors： Petersen CE,Scottolini AG,Cody LR,Mandel M,Reimer N,Bhagavan NV

更新日期：1994-05-01 00:00:00

abstract：:Shortening of the tubular bones of the hands and feet with cone shaped epiphyses is known as peripheral dysostosis and is common to several syndromes including acrodysostosis and Albright's hereditary osteodystrophy (AHO). The underlying defect in AHO is known to be a reduction in bioactivity of the alpha subunit of t...

journal_title：Journal of medical genetics

authors： Wilson LC,Oude Luttikhuis ME,Baraitser M,Kingston HM,Trembath RC

更新日期：1997-02-01 00:00:00

abstract：BACKGROUND:Germ-line mutations in CYLD are found in patients with familial skin appendage tumours. The protein product functions as a deubiquitinase enzyme, which negatively regulates NF-kappaB and c-Jun N-terminal kinase signalling. Brooke-Spiegler syndrome (BSS) is characterised by cylindromas, trichoepitheliomas and...

journal_title：Journal of medical genetics

authors： Saggar S,Chernoff KA,Lodha S,Horev L,Kohl S,Honjo RS,Brandt HR,Hartmann K,Celebi JT

更新日期：2008-05-01 00:00:00

abstract：BACKGROUND:Congenital fibrosis of the extraocular muscles (CFEOM) is a heterogeneous group of disorders that may be associated with other anomalies. The association of a CFEOM syndrome with ulnar hand abnormalities (CFEOM/U) has not been reported to date. OBJECTIVE:To describe a new autosomal recessive syndrome of CFE...

journal_title：Journal of medical genetics

authors： Tukel T,Uzumcu A,Gezer A,Kayserili H,Yuksel-Apak M,Uyguner O,Gultekin SH,Hennies HC,Nurnberg P,Desnick RJ,Wollnik B

更新日期：2005-05-01 00:00:00

abstract：:Oguchi disease is a rare autosomal recessive form of congenital stationary night blindness. The condition is associated with fundus discolouration and abnormally slow dark adaptation. Earlier studies suggested that the 48 kD protein S antigen may be involved in the recovery phase of light transduction. Previous cytoge...

journal_title：Journal of medical genetics

authors： Maw MA,John S,Jablonka S,Müller B,Kumaramanickavel G,Oehlmann R,Denton MJ,Gal A

更新日期：1995-05-01 00:00:00

abstract：:This report concerns two families in which the index patients are sporadic cases of a benign form of muscular dystrophy. In both families the sisters of the patients have married a close relative. The respective risks for a child of these consanguineous marriages being affected with either X linked Becker muscular dys...

journal_title：Journal of medical genetics

authors： Wolff G,Müller CR,Grimm T

更新日期：1989-05-01 00:00:00

abstract：:Sex linked recessive deafness is a rare cause of male genetic deafness, estimated to account for 6.2% of male genetic deafness in 1966. A male excess was found in the deaf population of Ireland in 1851. Reevaluation of this survey of 1851 confirms sex linked deafness as a factor in the disproportionate number of deaf ...

journal_title：Journal of medical genetics

authors： Reardon W

更新日期：1990-06-01 00:00:00

abstract：BACKGROUND:Recently, a patient with maternal uniparental disomy of chromosome 16 (UPD(16)mat) presenting with Silver-Russell syndrome (SRS) phenotype was reported. SRS is characterised by growth failure and dysmorphic features. OBJECTIVE:To clarify the prevalence of UPD(16)mat in aetiology-unknown patients with SRS ph...

journal_title：Journal of medical genetics

authors： Inoue T,Yagasaki H,Nishioka J,Nakamura A,Matsubara K,Narumi S,Nakabayashi K,Yamazawa K,Fuke T,Oka A,Ogata T,Fukami M,Kagami M

更新日期：2019-06-01 00:00:00

abstract：:Autosomal dominant sacral agenesis is characterised by a partial agenesis of the sacrum typically involving sacral vertebrae S2-S5 only. Associated features include anorectal malformation, a presacral mass, and urogenital malformation. Together, these features have been defined as the Currarino syndrome. Recently, HLX...

journal_title：Journal of medical genetics

authors： Lynch SA,Wang Y,Strachan T,Burn J,Lindsay S

更新日期：2000-08-01 00:00:00

abstract：:We report four patients with hypertrichosis cubiti who were referred for investigation of short stature. Two males, whose height was on and just below the 3rd centile respectively, were sporadic cases and two females with disproportionate short stature were mother and daughter. Radiological changes present in the fami...

journal_title：Journal of medical genetics

authors： MacDermot KD,Patton MA,Williams MJ,Winter RM

更新日期：1989-06-01 00:00:00

abstract：:Genetic linkage studies were performed in 16 British families affected by X linked ocular albinism (XLOA) using RFLPs from the Xp22.3 region. Linkage was confirmed between the XLOA locus (OA1) and the loci DXS143 (dic56; Zmax = 15.90 at theta = 0.0, confidence interval (CI) 0-0.035), DXS85 (782; Zmax = 15.67 at theta ...

journal_title：Journal of medical genetics

authors： Charles SJ,Moore AT,Yates JR

更新日期：1992-08-01 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：BACKGROUND:Fryns syndrome (FS) is the commonest autosomal recessive syndrome in which congenital diaphragmatic hernia (CDH) is a cardinal feature. It has been estimated that 10% of patients with CDH have FS. The autosomal recessive inheritance in FS contrasts with the sporadic inheritance for the majority of patients w...

journal_title：Journal of medical genetics

authors： Slavotinek A,Lee SS,Davis R,Shrit A,Leppig KA,Rhim J,Jasnosz K,Albertson D,Pinkel D

更新日期：2005-09-01 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：:Mucopolysaccharidosis Type I (Hurler's syndrome) was diagnosed in an 18 week old fetus of a woman with 1 affected child by direct assay of glycosaminoglycans in amniotic fluid. Subsequently the fetus was aborted by hysterotomy and diagnosis was confirmed by analyzing glycosaminoglycans in fetal liver, electron microg...

journal_title：Journal of medical genetics

authors： Crawfurd M,Dean MF,Hunt DM,Johnson DR,MacDonald RR,Muir H,Wright EA,Wright CR

更新日期：1973-06-01 00:00:00

abstract：:We report a new case of Rubinstein-Taybi syndrome with a hypoplastic right kidney, persistent pulmonary hypertension, and mitral valve regurgitation. Other pertinent features included broad thumbs, broad big toes, syndactyly of the third and fourth fingers bilaterally, beaked nose, broad columella of the nose, patent ...

journal_title：Journal of medical genetics

authors： Kanjilal D,Basir MA,Verma RS,Rajegowda BK,Lala R,Nagaraj A

更新日期：1992-09-01 00:00:00

abstract：:Acute intermittent porphyria (AIP) is a primary disorder of haem biosynthesis that is chemically characterised by raised urinary porphobilinogen (PBG). A defect in the biochemical pathway at the step of PBG conversion to uroporphyrinogen has been shown to be a result of a partial deficiency of the enzyme uroporphyrino...

journal_title：Journal of medical genetics

authors： Lamon JM,Frykholm BC,Tschudy DP

更新日期：1979-04-01 00:00:00

abstract：BACKGROUND:Constitutional mismatch repair deficiency (CMMRD) syndrome is a childhood cancer predisposition syndrome involving biallelic germline mutations of MMR genes, poorly recognised by clinicians so far. METHODS:Retrospective review of all 31 patients with CMMRD diagnosed in French genetics laboratories in order ...

journal_title：Journal of medical genetics

authors： Lavoine N,Colas C,Muleris M,Bodo S,Duval A,Entz-Werle N,Coulet F,Cabaret O,Andreiuolo F,Charpy C,Sebille G,Wang Q,Lejeune S,Buisine MP,Leroux D,Couillault G,Leverger G,Fricker JP,Guimbaud R,Mathieu-Dramard M,Jedra

更新日期：2015-11-01 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：:To define the PKD1 locus further, the gene involved in the most frequent form of adult polycystic kidney disease, probes from 16 polymorphic loci were mapped on 16p13.1-pter with the combined use of cell lines containing rearranged chromosomes and family studies. Five breakpoints in the distal part of 16p arbitrarily ...

journal_title：Journal of medical genetics

authors： Breuning MH,Snijdewint FG,Brunner H,Verwest A,Ijdo JW,Saris JJ,Dauwerse JG,Blonden L,Keith T,Callen DF

更新日期：1990-10-01 00:00:00

abstract：:A female with the Weaver syndrome is reported. In addition to the characteristic manifestations of overgrowth and advanced bone age, the facies were typical, with a broad forehead, hypertelorism, a long philtrum, micrognathia, and large ears. Like most other patients with Weaver syndrome, she was developmentally delay...

journal_title：Journal of medical genetics

authors： Thompson EM,Hill S,Leonard JV,Pembrey ME

更新日期：1987-04-01 00:00:00

abstract：:A new variant of G6PD associated with chronic non-spherocytic haemolytic anaemia (CNSHA) in an Irish male is described. This variant is unique in that it has a normal electrophoretic mobility, Michaelis constant for G6P and NADP, and a normal pH optimum, together with a marked increase in utilisation of the substrate ...

journal_title：Journal of medical genetics

authors： McCann SR,Smithwick AM,Temperley IJ,Tipton K

更新日期：1980-06-01 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：:Three sibs out of four, born to unrelated parents, developed early cutaneous photosensitivity and severe colitis. All of them died from untreatable diarrhoea. A fourth boy, whose father was different, did not have the same symptoms. The origin of this syndrome remains unclear and, in particular, no metabolic defect co...

journal_title：Journal of medical genetics

authors： Labrune P,Huguet P,Alagille D,Odievre M

更新日期：1991-02-01 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：:We report two sibs with features overlapping those of orofaciodigital syndrome type VI (Varadi syndrome). Both presented at birth with oculomotor abnormalities, dysmorphic facial features, and dysgenesis of the cerebellar vermis. There were minimal oral manifestations (high arched palate) in both of them and one had p...

journal_title：Journal of medical genetics

authors： Al-Gazali LI,Sztriha L,Punnose J,Shather W,Nork M

更新日期：1999-02-01 00:00:00