Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging.

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：BACKGROUND:Ichthyosis and neurological involvement occur in relatively few known Mendelian disorders caused by mutations in genes relevant both for epidermis and neural function. OBJECTIVES:To identify the cause of a similar phenotype of ichthyotic keratoderma, spasticity, mild hypomyelination (on MRI) and dysmorphic ...

journal_title：Journal of medical genetics

authors： Kutkowska-Kaźmierczak A,Rydzanicz M,Chlebowski A,Kłosowska-Kosicka K,Mika A,Gruchota J,Jurkiewicz E,Kowalewski C,Pollak A,Stradomska TJ,Kmieć T,Jakubowski R,Gasperowicz P,Walczak A,Śladowski D,Jankowska-Steifer E,Kornisze

更新日期：2018-06-01 00:00:00

abstract：BACKGROUND:22q11.2 deletion syndrome (22q11.2DS) is a multisystem disease with a prevalence of 1/4000. Variable expression of congenital and later onset features contributes to its under-recognition. Longevity in those surviving childhood is believed to be normal but data are limited. METHODS:We prospectively followed...

journal_title：Journal of medical genetics

authors： Bassett AS,Chow EW,Husted J,Hodgkinson KA,Oechslin E,Harris L,Silversides C

更新日期：2009-05-01 00:00:00

abstract：BACKGROUND:Early infantile epileptic encephalopathies usually manifest as severely impaired cognitive and motor development and often result in a devastating permanent global developmental delay and intellectual disability. A large set of genes has been implicated in the aetiology of this heterogeneous group of disorde...

journal_title：Journal of medical genetics

authors： Edvardson S,Oz S,Abulhijaa FA,Taher FB,Shaag A,Zenvirt S,Dascal N,Elpeleg O

更新日期：2013-02-01 00:00:00

abstract：:A unique connective tissue disorder characterised by the triad of dentinogenesis imperfecta, blue sclerae, and multiple wormian bones has been identified in 20 members of three generations of a large kindred of mixed ancestry in South Africa. The skeletons of affected subjects were moderately osteoporotic but, apart f...

journal_title：Journal of medical genetics

authors： Beighton P

更新日期：1981-04-01 00:00:00

abstract：:We report on two brothers and one maternal cousin with severe mental retardation, microcephaly, short stature, cryptorchidism, and spastic diplegia. The patients were born to normal and non-consanguineous parents. All other members of the family, almost exclusively females, were clinically normal, suggesting X linked ...

journal_title：Journal of medical genetics

authors： Martínez F,Tomás M,Millán JM,Fernández A,Palau F,Prieto F

更新日期：1998-04-01 00:00:00

abstract：:Neurofibromatosis type 1 is one of the most common inherited disorders with an incidence of 1 in 3000. The search for NF1 mutations has been hampered by the overall size of the gene, the large number of exons, and the high mutation rate. To date, fewer than 90 mutations have been reported to the NF1 mutation analysis ...

journal_title：Journal of medical genetics

authors： Upadhyaya M,Maynard J,Osborn M,Huson SM,Ponder M,Ponder BA,Harper PS

更新日期：1995-09-01 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：:In this paper the costs and benefits associated with DNA diagnosis of subjects who are at risk of having a child with a monogenic disease and who seek genetic counselling because of their reproductive plans are predicted under various assumptions using a mathematical model. Four monogenic diseases have been considered...

journal_title：Journal of medical genetics

authors： van der Riet AA,van Hout BA,Rutten FF

更新日期：1997-09-01 00:00:00

abstract：:The most useful markers for the prenatal diagnosis of myotonic dystrophy (DM) are APOC2 and CKM, both of which map proximal to DM. In order to produce other markers useful for DM, we have screened genomic DNA libraries constructed from cell line 20XP3542-1-4, which contains 20 to 30 Mb of human material including APOC...

journal_title：Journal of medical genetics

authors： Brook JD,Harley HG,Walsh KV,Rundle SA,Siciliano MJ,Harper PS,Shaw DJ

更新日期：1991-02-01 00:00:00

abstract：:A mild, non-transfusion dependent, beta thalassaemia phenotype is described in a Dutch patient homozygous for a mutation in the cleavage-polyadenylation sequence of the beta globin gene. The molecular basis of the mutation, AATAAA greater than AATGAA, was determined using denaturing gradient gel electrophoresis (DGGE)...

journal_title：Journal of medical genetics

authors： Losekoot M,Fodde R,Harteveld CL,van Heeren H,Giordano PC,Went LN,Bernini LF

更新日期：1991-04-01 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：:A case of true hermaphroditism is reported in which a 46,XY karyotype was associated with a testis and an ovotestis. The dual presence of a Fallopian tube and a vas deferens on the side of the ovotestis is documented as a previously unreported finding. ...

journal_title：Journal of medical genetics

authors： Williams C,Hughes IA

更新日期：1988-03-01 00:00:00

abstract：:A child is presented with a 49,XXXXX chromosomal constitution bringing to 12 the total number of children described with this karyotype. Comparison of this child's features with previously reported cases indicates a clinically recognisable specific pattern of malformations referred to as the penta-X syndrome. X chromo...

journal_title：Journal of medical genetics

authors： Monheit A,Francke U,Saunders B,Jones KL

更新日期：1980-10-01 00:00:00

abstract：:As the variability and possible clinical significance of palm increase abnormalities receive greater attention, an accurate and objective method for evaluating the palm increase variants is required. A new method is described employing a topographic approach. A network of co-ordinates drawn on the palm prints enables ...

journal_title：Journal of medical genetics

authors： Dar H,Schmidt R

更新日期：1976-08-01 00:00:00

abstract：:Four different Waardenburg syndromes have been defined based upon observed phenotypes. These syndromes are responsible for approximately 2% of subjects with profound congenital hearing loss. At present, Waardenburg syndromes have not been mapped to particular human chromosomes. One or more of the mouse mutant alleles,...

journal_title：Journal of medical genetics

authors： Asher JH Jr,Friedman TB

更新日期：1990-10-01 00:00:00

abstract：:Split hand-split foot malformation (SHFM) is a genetically heterogeneous limb developmental defect characterised by the absence of digital rays and syndactyly of the remaining digits. Three disease loci have recently been mapped to chromosomes 7q21 (SHFM1), Xq26 (SHFM2), and 10q25 respectively (SHFM3). We report the m...

journal_title：Journal of medical genetics

authors： Raas-Rothschild A,Manouvrier S,Gonzales M,Farriaux JP,Lyonnet S,Munnich A

更新日期：1996-12-01 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：: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: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

abstract：:The inheritance of restriction fragment length polymorphisms for two fibrillar collagen genes (COL1A2 and COL3A1) has been studied in a large Marfan syndrome kindred. We are able to show discordant segregation between the Marfan syndrome and each of the two collagen gene markers. ...

journal_title：Journal of medical genetics

authors： Dalgleish R,Hawkins JR,Keston M

更新日期：1987-03-01 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：:C9orf72 repeat expansions is a major cause of familial frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) worldwide. Sizes of <20 hexanucleotide repeats are observed in controls, while up to thousands associate with disease. Intermediate C9orf72 repeat lengths, however, remain uncertain. We systemat...

journal_title：Journal of medical genetics

authors： Ng ASL,Tan EK

更新日期：2017-09-01 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：BACKGROUND:Lysosomal protein profiling is being developed as a high throughput method to screen populations for lysosomal storage disorders (LSD). DESIGN:1415 blood spots from patients referred to a metabolic clinic for LSD were screened using a single multiplex assay for 14 proteins in a dried blood spot. RESULTS:Al...

journal_title：Journal of medical genetics

authors： Fuller M,Tucker JN,Lang DL,Dean CJ,Fietz MJ,Meikle PJ,Hopwood JJ

更新日期：2011-06-01 00:00:00

abstract：:We report here a father and daughter with digital abnormalities, nasolacrimal duct obstruction, and variable alopecia. The father had a cleft lip and palate and the daughter had choanal atresia. We propose they both have the EEC syndrome and show the variable expressivity of this disorder. Choanal atresia has not been...

journal_title：Journal of medical genetics

authors： Christodoulou J,McDougall PN,Sheffield LJ

更新日期：1989-09-01 00:00:00

abstract：:A total of 102 families with Duchenne muscular dystrophy has been studied with linked DNA polymorphisms as an aid to estimating carrier risks for female relatives. Early work using probes RC8, L1.28, and pXUT23 gave very little clinically useful information because of the high recombination rates between these probes ...

journal_title：Journal of medical genetics

authors： Read AP,Kerzin-Storrar L,Mountford RC,Elles RG,Harris R

更新日期：1986-12-01 00:00:00

abstract：:Spinocerebellar ataxia type 2 (SCA2) is caused by the expansion of an unstable CAG repeat encoding a polyglutamine tract. Repeats with 32 to 200 CAGs are associated with the disease, whereas normal chromosomes contain 13 to 33 repeats. We tested 220 families of different geographical origins for the SCA2 mutation. Thi...

journal_title：Journal of medical genetics

authors： Didierjean O,Cancel G,Stevanin G,Dürr A,Bürk K,Benomar A,Lezin A,Belal S,Abada-Bendid M,Klockgether T,Brice A

更新日期：1999-05-01 00:00:00

abstract：BACKGROUND:Congenital deletions affecting 3q11q23 have rarely been reported and only five cases have been molecularly characterised. Genotype-phenotype correlation has been hampered by the variable sizes and breakpoints of the deletions. In this study, 14 novel patients with deletions in 3q11q23 were investigated and c...

journal_title：Journal of medical genetics

authors： Molin AM,Andrieux J,Koolen DA,Malan V,Carella M,Colleaux L,Cormier-Daire V,David A,de Leeuw N,Delobel B,Duban-Bedu B,Fischetto R,Flinter F,Kjaergaard S,Kok F,Krepischi AC,Le Caignec C,Ogilvie CM,Maia S,Mathieu-Drama

更新日期：2012-02-01 00:00:00

abstract：:Recent studies have shown that the G-allele of MDM2 SNP309 (T/G) in the p53 tumour suppressor pathway can accelerate tumorigenesis and alter the risk of various cancers in women and not in men. In this report, data are presented from two independent groups of patients that suggest that the G-allele of SNP309 accelerat...

journal_title：Journal of medical genetics

authors： Bond GL,Menin C,Bertorelle R,Alhopuro P,Aaltonen LA,Levine AJ

更新日期：2006-12-01 00:00:00