Mowat-Wilson syndrome.

abstract：:An apparently autosomal recessive syndrome of congenital renal tubular dysplasia and skull ossification defects is described in five infants from two separate, consanguineous, Pakistani Muslim kindreds. The clinical, pathological, and radiological features are similar to the phenotype associated with fetal exposure to...

journal_title：Journal of medical genetics

authors： Kumar D,Moss G,Primhak R,Coombs R

更新日期：1997-07-01 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：:Chromosome 1 is thought to represent about 6% of the total human genome and the 85 loci so far identified may constitute about 1% of the genes present on this chromosome. The existence of at least 22 loci sufficiently polymorphic in Europeans to be useful as genetic markers has allowed the construction of an elementar...

journal_title：Journal of medical genetics

authors： Povey S,Parrington JM

更新日期：1986-04-01 00:00:00

abstract：:A method is described to investigate the inheritance of disease predisposition in cancer families. It is an extension of classic genetic linkage analysis, which enables information on loss of constitutional heterozygosity (LOCH) to be incorporated into the model. This adapted model treats LOCH data as additional obser...

journal_title：Journal of medical genetics

authors： Teare MD,Rohde K,Santibáñez Koref MF

更新日期：1994-06-01 00:00:00

abstract：BACKGROUND:Autosomal recessive hereditary spastic paraplegias (AR-HSP) constitute a heterogeneous group of neurodegenerative diseases involving pyramidal tracts dysfunction. The genes responsible for many types of AR-HSPs remain unknown. We attempted to identify the gene responsible for AR-HSP with optic atrophy and ne...

journal_title：Journal of medical genetics

authors： Shimazaki H,Takiyama Y,Ishiura H,Sakai C,Matsushima Y,Hatakeyama H,Honda J,Sakoe K,Naoi T,Namekawa M,Fukuda Y,Takahashi Y,Goto J,Tsuji S,Goto Y,Nakano I,Japan Spastic Paraplegia Research Consortium (JASPAC).

更新日期：2012-12-01 00:00:00

abstract：:Two cases are reported of patients with deletions of chromosome 5q. Both have familial adenomatous polyposis (FAP) and mild mental retardation. In both, macroscopic polyposis was confined to the proximal colon in adult life (in their thirties) although microscopic adenomatosis was shown in the more distal colon with o...

journal_title：Journal of medical genetics

authors： Hodgson SV,Coonar AS,Hanson PJ,Cottrell S,Scriven PN,Jones T,Hawley PR,Wilkinson ML

更新日期：1993-05-01 00:00:00

abstract：BACKGROUND:There is increasing interest in the influence of host genetic factors on hepatic fibrosis, and whether genetic markers can reliably identify subjects at risk of developing severe disease. We hypothesised that hepatitis C virus (HCV) infected subjects with progressive fibrosis, classified using strict criteri...

journal_title：Journal of medical genetics

authors： Richardson MM,Powell EE,Barrie HD,Clouston AD,Purdie DM,Jonsson JR

更新日期：2005-07-01 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：:The features of a baby with lethal perinatal osteogenesis imperfecta (OI-II), resulting from the substitution of tryptophan 94 by cysteine in the carboxyl-terminal propeptide of pro alpha 1 (I) chains of type I procollagen, were studied. The limbs and torso were of normal length, shape, and proportion. Similarly, all ...

journal_title：Journal of medical genetics

authors： Cole WG,Chow CW,Bateman JF,Sillence DO

更新日期：1996-11-01 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：:Deficiency of iduronate-2-sulphatase (IDS) results in the X linked recessive lysosomal storage disorder Hunter syndrome. Determination of carrier status in families affected by this disorder has been performed using a variety of enzymatic tests. None of these tests has proved to be 100% effective at identifying carrie...

journal_title：Journal of medical genetics

authors： Timms KM,Edwards FJ,Belmont JW,Yates JR,Gibbs RA

更新日期：1998-08-01 00:00:00

abstract：:A review of the data supports the suggestion of Knox (1974) that the sex ratio and incidence of anencephalics vary together within populations, as they are known to do between populations. There seems some doubts, though, whether Knox was correct in hypothesising that the sex ratio of anencephalics varies with their i...

journal_title：Journal of medical genetics

authors： James WH

更新日期：1979-04-01 00:00:00

abstract：:Inherited optic neuropathies are a significant cause of childhood and adult blindness and dominant optic atrophy (DOA) is the most common form of autosomally inherited (non-glaucomatous) optic neuropathy. Patients with DOA present with an insidious onset of bilateral visual loss and they characteristically have tempor...

journal_title：Journal of medical genetics

authors： Votruba M,Moore AT,Bhattacharya SS

更新日期：1998-10-01 00:00:00

abstract：:An 18 month old girl with dysmorphic features, severe developmental delay, multiple strawberry naevi, and capillary naevi is described. No previous report of a similar association of features has been identified. ...

journal_title：Journal of medical genetics

authors： Upton CJ,Young ID

更新日期：1993-10-01 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：:A family with von Hippel-Lindau disease (VHL) type 2A has been shown to have a T to C missense mutation at nucleotide 547 of the VHL gene. This gives further support for the proposal to associate the 547 T to C mutation with phenotype VHL 2A. ...

journal_title：Journal of medical genetics

authors： Chen F,Slife L,Kishida T,Mulvihill J,Tisherman SE,Zbar B

更新日期：1996-08-01 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：:Rett syndrome (RS; MIM 312750) is a severe neurological disorder affecting exclusively females. Its prevalence is about 1 in 10,000 female births, and it is a prominent cause of profound mental handicap in women. RS is caused by mutations in the X-linked methyl CpG-binding protein 2 (MECP2) gene. These mutations were ...

journal_title：Journal of medical genetics

authors： Villard L

更新日期：2007-07-01 00:00:00

abstract：BACKGROUND:The AZFc region on the human Y chromosome has been found to be functionally important in spermatogenesis. Complete AZFc deletion is one of the most frequent causes of male infertility and the roles of partial AZFc deletions (gr/gr and b2/b3 deletions) in spermatogenesis are controversial. METHODS:To further...

journal_title：Journal of medical genetics

authors： Zhang F,Lu C,Li Z,Xie P,Xia Y,Zhu X,Wu B,Cai X,Wang X,Qian J,Wang X,Jin L

更新日期：2007-07-01 00:00:00

abstract：:Linkage of the anonymous marker D3S2 at 3p21 has been shown in three British families with dominant dystrophic epidermolysis bullosa with a combined lod score of 6.75 at theta = 0. This locus is close to the collagen type VII locus implying that abnormalities of this gene cause dominant dystrophic epidermolysis bullos...

journal_title：Journal of medical genetics

authors： al-Imara L,Richards AJ,Eady RA,Leigh IM,Farrall M,Pope FM

更新日期：1992-06-01 00:00:00

abstract：:A panel of five multiallelic and highly informative dinucleotide CA repeat markers flanking the APC gene was used for presymptomatic diagnosis of familial adenomatous polyposis coli (FAP). Marker regions were amplified by PCR. DNA fragments were separated by electrophoresis in denaturing polyacrylamide gels and visual...

journal_title：Journal of medical genetics

authors： Eckert WA,Jung C,Wolff G

更新日期：1994-06-01 00:00:00

abstract：BACKGROUND:A Y chromosomal role in prostate cancer has previously been suggested by both cytogenetic findings and patterns of Y chromosomal gene expression. We took advantage of the well established and stable phylogeny of the non-recombining segment of the Y chromosome to investigate the association between Y chromoso...

journal_title：Journal of medical genetics

authors： Paracchini S,Pearce CL,Kolonel LN,Altshuler D,Henderson BE,Tyler-Smith C

更新日期：2003-11-01 00:00:00

abstract：:The chemical and physical properties of haemoglobin S derived from homozygotes for this haemoglobin in Sicily were examined, as well as some erythrocytic characteristics. Sicilian Hb S was identical to that found in USA black patients in electrophoretic mobility on both starch and citrate agar media, solubility, mecha...

journal_title：Journal of medical genetics

authors： Roth EF Jr,Schiliro G,Russo A,Musumeci S,Rachmilewitz E,Neske V,Nagel R

更新日期：1980-02-01 00:00:00

abstract：:Since the advent of C-banding as a routine diagnostic procedure, the significance of heterochromatic polymorphism has been questioned. Some workers have considered variations in heterochromatin in chromosomes 1 and 9 to be associated with fetal wastage, recurrent abortions, and abnormal phenotypes. Over a 15-month per...

journal_title：Journal of medical genetics

authors： Hemming L,Burns C

更新日期：1979-10-01 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：: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 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：:The APC gene was investigated in 31 unrelated polyposis coli families by SSCP analysis and the protein truncation test. Twenty-three germline mutations were identified which gave rise to a variety of different phenotypes. Some of these mutations have already been described; however we report six previously unpublished...

journal_title：Journal of medical genetics

authors： Dobbie Z,Spycher M,Mary JL,Häner M,Guldenschuh I,Hürliman R,Amman R,Roth J,Müller H,Scott RJ

更新日期：1996-04-01 00:00:00

abstract：:Germline mutations in highly penetrant autosomal dominant genes explain about 5% of all breast cancer, and heritable mutations in the BRCA1 breast and ovarian cancer susceptibility gene account for 2-3% of breast cancer in the general population. Nevertheless, the presence of such mutations is highly predictive of dis...

journal_title：Journal of medical genetics

authors： Chang-Claude J,Dong J,Schmidt S,Shayeghi M,Komitowski D,Becher H,Stratton MR,Royer-Pokora B

更新日期：1998-02-01 00:00:00

abstract：BACKGROUND:Members of two seemingly unrelated kindreds of Arab Moslem origin presented with pronounced early onset spastic paraparesis of upper and lower limbs, mild intellectual disability, kyphosis, pectus carinatum and hypertrichosis. METHODS:The authors performed neurological and developmental examinations on the ...

journal_title：Journal of medical genetics

authors： Zivony-Elboum Y,Westbroek W,Kfir N,Savitzki D,Shoval Y,Bloom A,Rod R,Khayat M,Gross B,Samri W,Cohen H,Sonkin V,Freidman T,Geiger D,Fattal-Valevski A,Anikster Y,Waters AM,Kleta R,Falik-Zaccai TC

更新日期：2012-07-01 00:00:00