Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.

abstract：:Cockayne's syndrome (CS) is a rare autosomal recessive disorder with dwarfism, mental retardation, and otherwise clinically heterogeneous features. In cultured CS fibroblasts, the failure of RNA synthesis to recover to normal rates after UV-C irradiation provides a useful and relatively simple diagnostic test. We have...

journal_title：Journal of medical genetics

authors： Lehmann AR,Thompson AF,Harcourt SA,Stefanini M,Norris PG

更新日期：1993-08-01 00:00:00

abstract：:A patient with a typical Down syndrome (DS) phenotype and a normal karyotype was studied by FISH. Using painting probes, we found that the patient had partial trisomy of chromosome 21 owing to an unbalanced translocation t(15;21) (q26; q22.1) of paternal origin. To correlate genotype with phenotype as accurately as po...

journal_title：Journal of medical genetics

authors： Nadal M,Moreno S,Pritchard M,Preciado MA,Estivill X,Ramos-Arroyo MA

更新日期：1997-01-01 00:00:00

abstract：BACKGROUND:The genetic causes of human idiopathic non-obstructive azoospermia (NOA) with meiotic arrest remain unclear. METHODS:Two Chinese families with infertility participated in the study. In family 1, two brothers were affected by idiopathic NOA. In family 2, the proband was diagnosed with idiopathic NOA, and his...

journal_title：Journal of medical genetics

authors： Yao C,Yang C,Zhao L,Li P,Tian R,Chen H,Guo Y,Huang Y,Zhi E,Zhai J,Sun H,Zhang J,Hong Y,Zhang L,Ji Z,Zhang F,Zhou Z,Li Z

更新日期：2020-09-08 00:00:00

abstract：:A variant chromosome 4 with a large G positive heterochromatic block is described and discussed in relation to chromosome 4 heteromorphisms observed with other banding techniques. The extra heterochromatin is C positive and fluoresces brilliantly with Q banding, but differs from Yqh with some methods of staining. ...

journal_title：Journal of medical genetics

authors： Docherty Z,Bowser-Riley SM

更新日期：1984-12-01 00:00:00

abstract：BACKGROUND:Chromosomal rearrangements, arising from unequal recombination between repeated sequences, are found in a subset of patients with autism. Duplications involving loci associated with behavioural disturbances constitute an especially good candidate mechanism. The Williams-Beuren critical region (WBCR), located...

journal_title：Journal of medical genetics

authors： Depienne C,Heron D,Betancur C,Benyahia B,Trouillard O,Bouteiller D,Verloes A,LeGuern E,Leboyer M,Brice A

更新日期：2007-07-01 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：:Data from 98 patients with hereditary haemorrhagic telangiectasia (HHT) are presented. All were symptomatic by 40 years of age and 62% by 16 years. Nose bleeding was the first symptom of disease in 90% of cases with mucocutaneous telangiectases appearing 5 to 20 years later. Complications of HHT are discussed and an a...

journal_title：Journal of medical genetics

authors： Porteous ME,Burn J,Proctor SJ

更新日期：1992-08-01 00:00:00

abstract：:Three hundred and fifty pregnancies were monitored by transabdominal amniocentesis in the fourteenth to sixteenth week of gestation followed by karyotyping or biochemica assays of cultured amniotic fluid cells and analysis of alpha-fetoprotein in the amniotic fluid supernatant. The pregnancy was interrupted in 36 case...

journal_title：Journal of medical genetics

authors： Niermeijer MF,Sachs ES,Jahodova M,Tichelaar-Klepper C,Kleijer WJ,Galjaard H

更新日期：1976-06-01 00:00:00

abstract：INTRODUCTION AND METHODS:Since the concept of the "two hit hypothesis" was introduced over 20 years ago, a wealth of genetic data has accumulated on the mutations found at tumour suppressor loci. Perhaps surprisingly, these data conceal large gaps in our knowledge which genetic and functional studies are beginning to u...

journal_title：Journal of medical genetics

authors： Tomlinson IP,Roylance R,Houlston RS

更新日期：2001-02-01 00:00:00

abstract：:Recently five patients with an Albright hereditary osteodystrophy (AHO)-like phenotype were reported to have a subtelomeric deletion of the long arm of chromosome 2. These patients showed a striking resemblance to a number of patients from a large pedigree known to us for a long time. After molecular confirmation of a...

journal_title：Journal of medical genetics

authors： Bijlsma EK,Aalfs CM,Sluitjer S,Oude Luttikhuis ME,Trembath RC,Hoovers JM,Hennekam RC

更新日期：1999-08-01 00:00:00

abstract：BACKGROUND:The 5α-reductase type 2 (5α-RD2) deficiency caused by mutations in the steroid 5α-reductase 2 (SRD5A2) gene results in variable degrees of undervirilisation in patients with 46,XY disorders of sex development. This study aims to profile the regional distribution and phenotype-genotype characteristics of SRD5...

journal_title：Journal of medical genetics

authors： Gui B,Song Y,Su Z,Luo FH,Chen L,Wang X,Chen R,Yang Y,Wang J,Zhao X,Fan L,Liu X,Wang Y,Chen S,Gong C

更新日期：2019-10-01 00:00:00

abstract：BACKGROUND:Although BRCA1 and BRCA2 mutations account for only ∼27% of the familial aggregation of ovarian cancer (OvC), no OvC risk prediction model currently exists that considers the effects of BRCA1, BRCA2 and other familial factors. Therefore, a currently unresolved problem in clinical genetics is how to counsel w...

journal_title：Journal of medical genetics

authors： Jervis S,Song H,Lee A,Dicks E,Harrington P,Baynes C,Manchanda R,Easton DF,Jacobs I,Pharoah PP,Antoniou AC

更新日期：2015-07-01 00:00:00

abstract：BACKGROUND:DYNC1H1 encodes the heavy chain protein of the cytoplasmic dynein 1 motor protein complex that plays a key role in retrograde axonal transport in neurons. Furthermore, it interacts with the LIS1 gene of which haploinsufficiency causes a severe neuronal migration disorder in humans, known as classical lissenc...

journal_title：Journal of medical genetics

authors： Willemsen MH,Vissers LE,Willemsen MA,van Bon BW,Kroes T,de Ligt J,de Vries BB,Schoots J,Lugtenberg D,Hamel BC,van Bokhoven H,Brunner HG,Veltman JA,Kleefstra T

更新日期：2012-03-01 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：:We have performed linkage analysis in seven Italian families, in which mild osteogenesis imperfecta (OI) segregated as a dominant trait, by means of six DNA restriction fragment length polymorphisms (RFLPs) of type I collagen genes. OI type I was linked to the alpha 1(I) gene (COL1A1) in two families, and to the alpha...

journal_title：Journal of medical genetics

authors： Mottes M,Cugola L,Cappello N,Pignatti PF

更新日期：1990-06-01 00:00:00

abstract：:Linkage analysis of neurofibromatosis was performed using genes on chromosomes 1, 8, 11, and 12. No linkage was found between NF and C-myc, AT 3, IGF-1, PTH, and gamma globin genes. Evidence for linkage was found between C-ets 1, on the long arm of chromosome 11 and NF in two families with a lod score of 1.88 at theta...

journal_title：Journal of medical genetics

authors： Kittur S,Lubs ML,Bauer M,Chakravarti A,Kazazian H

更新日期：1987-09-01 00:00:00

abstract：:A family with an insertional type of chromosome rearrangement involving chromosomes 7 and 13 is reported. An interstitial deletion of a segment of chromosome 7 (7q32 leads to 34) had been inserted into the long arm of chromosome 13 at breakpoint q32. Segregation of this chromosome rearrangement gave rise to three subj...

journal_title：Journal of medical genetics

authors： Nielsen KB,Egede F,Mouridsen I,Mohr J

更新日期：1979-12-01 00:00:00

abstract：:A child with the Tel Hashomer camptodactyly syndrome is reported. Although muscle weakness and hypoplasia are reported features of this syndrome, further investigation of muscle function has not previously been carried out. We report a raised creatine kinase and an abnormal electromyogram and muscle biopsy in this syn...

journal_title：Journal of medical genetics

authors： Patton MA,McDermot KD,Lake BD,Baraitser M

更新日期：1986-06-01 00:00:00

abstract：:The occurrence in a family of an isolated case of an autosomal dominant disorder with reduced penetrance presents a difficult problem in genetic counselling. It is shown that in such a situation the risk of recurrence in subsequent offspring is given by: (formula; see text) where P is the penetrance (0 less than P les...

journal_title：Journal of medical genetics

authors： Emery AE

更新日期：1986-08-01 00:00:00

abstract：BACKGROUND:The cohesin complex plays an essential role in genome organisation and cell division. A full complement of the cohesin complex and its regulators is important for normal development, since heterozygous mutations in genes encoding these components can be sufficient to produce a disease phenotype. The implicat...

journal_title：Journal of medical genetics

authors： Schierding W,Horsfield JA,O'Sullivan JM

更新日期：2020-09-11 00:00:00

abstract：:We report on two adolescent sisters with Sanfilippo syndrome type D with some clinical features different from other cases previously described. They are the oldest cases reported to date and provide new clues about the course of the disease. Enzymatic and immunological characterisation of the patients' fibroblasts in...

journal_title：Journal of medical genetics

authors： Siciliano L,Fiumara A,Pavone L,Freeman C,Robertson D,Morris CP,Hopwood JJ,Di Natale P,Musumeci S,Horwitz AL

更新日期：1991-06-01 00:00:00

abstract：:The mean paternal age at birth of 80 presumed mutant cases of dominant osteogenesis imperfecta (OI) was significantly higher than that of population controls and remained so after adjusting for maternal age. There was also an increase in mean maternal age (not significant) which disappeared after adjusting for paterna...

journal_title：Journal of medical genetics

authors： Carothers AD,McAllion SJ,Paterson CR

更新日期：1986-06-01 00:00:00

abstract：BACKGROUND:Multiple morphological abnormalities of the sperm flagella (MMAF) is a kind of severe teratozoospermia. Patients with the MMAF phenotype are infertile and present aberrant spermatozoa with absent, short, coiled, bent and/or irregular flagella. Mutations in several genes can explain approximately 30%-50% of M...

journal_title：Journal of medical genetics

authors： Liu W,Sha Y,Li Y,Mei L,Lin S,Huang X,Lu J,Ding L,Kong S,Lu Z

更新日期：2019-10-01 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：:Immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX, OMIM 304790) is a rare, recessive disorder resulting in aggressive autoimmunity and early death. Mutations in FOXP3 have been identified in 13 of 14 patients tested. Research in the mouse model, scurfy, suggests that autoimmunity may stem from a lac...

journal_title：Journal of medical genetics

authors： Wildin RS,Smyk-Pearson S,Filipovich AH

更新日期：2002-08-01 00:00:00

abstract：BACKGROUND:Non-syndromic isolated cleft lip with or without cleft palate (NCL/P) is a common congenital anomaly in humans, the aetiology of which is complex and associated with both genetic and environmental factors. It has been reported that maternal nutritional factors are likely to play a major role in development o...

journal_title：Journal of medical genetics

authors： Mostowska A,Hozyasz KK,Wojcicki P,Dziegelewska M,Jagodzinski PP

更新日期：2010-12-01 00:00:00

abstract：:Evidence for linkage has been sought, in four pedigrees with Crouzon syndrome, between polymorphic markers known to be linked to the Saethre-Chotzen locus on 7p and another form of autosomal dominant craniosynostosis on 5q. The data we present exclude Crouzon syndrome as an allelic variant at either of these known cra...

journal_title：Journal of medical genetics

authors： Reardon W,van Herwerden L,Rose C,Jones B,Malcolm S,Winter RM

更新日期：1994-03-01 00:00:00

abstract：:Results of genealogical, DNA, and clinical findings in 41 families with 235 patients affected with myotonic dystrophy (DM) led to the following observations. (1) The relative proportion of affected patients among blacks is apparently lower than among whites or orientals. (2) A significant excess of males was observed....

journal_title：Journal of medical genetics

authors： Passos-Bueno MR,Cerqueira A,Vainzof M,Marie SK,Zatz M

更新日期：1995-01-01 00:00:00

abstract：BACKGROUND:Heart-hand syndromes are a heterogeneous group of genetic disorders characterised by the association of congenital cardiac disease and limb deformities. Laminopathies are a group of diseases caused by mutations in the LMNA gene encoding A-type lamins. RESULTS:We report a new LMNA mutation (c.1609-12T>G, IVS...

journal_title：Journal of medical genetics

authors： Renou L,Stora S,Yaou RB,Volk M,Sinkovec M,Demay L,Richard P,Peterlin B,Bonne G

更新日期：2008-10-01 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