Gene deletion in an Italian haemophilia B subject.

abstract：:Adult polycystic kidney disease (APKD) is a common genetic disorder that is inherited as an autosomal dominant trait. Recent reports show that, in some families, the APKD gene shows close genetic linkage to two chromosome 16 specific genetic markers. We have been conducting a genetic linkage study using 29 polymorphic...

journal_title：Journal of medical genetics

authors： Watson ML,Wright AF,Macnicol AM,Allan PL,Clayton JF,Dempster M,Jeremiah SJ,Corney G,Hopkinson DA

更新日期：1987-08-01 00:00:00

abstract：BACKGROUND:Inherited disorders of fibrinogen are rare and affect either the quantity (hypofibrinogenaemia and afibrinogenaemia) or the quality of the circulating fibrinogen (dysfibrinogenaemia). Extensive allelic heterogeneity has been found for all three disorders: in congenital afibrinogenaemia >30 mutations, the maj...

journal_title：Journal of medical genetics

authors： Vu D,de Moerloose P,Batorova A,Lazur J,Palumbo L,Neerman-Arbez M

更新日期：2005-09-01 00:00:00

abstract：BACKGROUND:Familial haemophagocytic lymphohistiocytosis (FHL) has an autosomal recessive mode of inheritance and consists of at least three subtypes. FHL2 subtype with perforin (PRF1) mutation accounts for 30% of all FHL cases, while FHL with MUNC13-4 mutation was recently identified and designated as FHL3 subtype. OB...

journal_title：Journal of medical genetics

authors： Yamamoto K,Ishii E,Sako M,Ohga S,Furuno K,Suzuki N,Ueda I,Imayoshi M,Yamamoto S,Morimoto A,Takada H,Hara T,Imashuku S,Sasazuki T,Yasukawa M

更新日期：2004-10-01 00:00:00

abstract：:The beta thalassaemia alleles in 50 beta thalassaemia heterozygotes originating from many parts of the United Arab Emirates (UAE) have been characterised using the allele specific priming technique of the polymerase chain reaction (PCR). The IVSI-5 (G-->C) mutation was found to be present in 66%, while six other allel...

journal_title：Journal of medical genetics

authors： Quaife R,al-Gazali L,Abbes S,Fitzgerald P,Fitches A,Valler D,Old JM

更新日期：1994-01-01 00:00:00

abstract：:We report a new disorder that we have called genochondromatosis. Four patients from the same family with the characteristic localisation of chondromatosis (clavicle, upper end of humerus, and lower end of femur) were investigated. The favourable course, the dominant transmission, and previous publication of similar ca...

journal_title：Journal of medical genetics

authors： Le Merrer M,Fressinger P,Maroteaux P

更新日期：1991-07-01 00:00:00

abstract：BACKGROUND:BRCA1 and BRCA2 (BRCA1/2) variants classified ambiguously as variants of uncertain significance (VUS) are a major challenge for clinical genetic testing in breast cancer; their relevance to the cancer risk is unclear and the association with the response to specific BRCA1/2-targeted agents is uncertain. To m...

journal_title：Journal of medical genetics

authors： Lee JS,Oh S,Park SK,Lee MH,Lee JW,Kim SW,Son BH,Noh DY,Lee JE,Park HL,Kim MJ,Cho SI,Lee YK,Park SS,Seong MW

更新日期：2018-12-01 00:00:00

abstract：BACKGROUND:Succinate-CoA ligase deficiency is responsible for encephalomyopathy with mitochondrial DNA depletion and mild methylmalonic aciduria. Mutations in SUCLA2, the gene encoding a β subunit of succinate-CoA ligase, have been reported in 17 patients until now. Mutations in SUCLG1, encoding the α subunit of the en...

journal_title：Journal of medical genetics

authors： Rouzier C,Le Guédard-Méreuze S,Fragaki K,Serre V,Miro J,Tuffery-Giraud S,Chaussenot A,Bannwarth S,Caruba C,Ostergaard E,Pellissier JF,Richelme C,Espil C,Chabrol B,Paquis-Flucklinger V

更新日期：2010-10-01 00:00:00

abstract：:A genetic study has been performed on five adrenoleucodystrophy families using DNA probes from Xq28. Members of each family had previously been tested for carrier status using the biochemical assay for very long chain fatty acids (VLCFAs), but several persons at risk had equivocal results. DNA analysis with four DNA p...

journal_title：Journal of medical genetics

authors： Del Mastro RG,Bundey S,Kilpatrick MW

更新日期：1990-11-01 00:00:00

abstract：BACKGROUND:Gene-targeting studies in mice have revealed a key role for EVI1 protein in the maintenance of haematopoiesis, and argue in favour of a gene dosage requirement for EVI1 in the regulation of haematopoietic stem cells. Furthermore, a fusion transcript of MDS1 and EVI1 has been shown to play a critical role in ...

journal_title：Journal of medical genetics

authors： Nielsen M,Vermont CL,Aten E,Ruivenkamp CA,van Herrewegen F,Santen GW,Breuning MH

更新日期：2012-09-01 00:00:00

abstract：BACKGROUND:A marker chromosome is defined as a structurally abnormal chromosome that cannot be identified by routine cytogenetics. The risk for phenotypic abnormalities associated with a marker chromosome depends on several factors, including inheritance, mode of ascertainment, chromosomal origin, and the morphology, c...

journal_title：Journal of medical genetics

authors： Graf MD,Christ L,Mascarello JT,Mowrey P,Pettenati M,Stetten G,Storto P,Surti U,Van Dyke DL,Vance GH,Wolff D,Schwartz S

更新日期：2006-08-01 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：: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：BACKGROUND:The apolipoprotein E (ApoE) polymorphism has been well studied in the adult human population, in part because the e4 allele is a known risk factor for Alzheimer's disease. Little is known of the distribution of ApoE alleles in newborns, and their association with perinatal brain damage has not been investiga...

journal_title：Journal of medical genetics

authors： Becher JC,Keeling JW,McIntosh N,Wyatt B,Bell J

更新日期：2006-05-01 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：BACKGROUND:Congenital hereditary non-progressive hypoplasia of the cerebellum is a rare condition, frequently associated with other neuropathology such as lissencephaly. Clinically, the condition is associated with variable degrees of mental retardation, microcephaly, seizures, and movement disorders due to ataxia. In ...

journal_title：Journal of medical genetics

authors： Türkmen S,Demirhan O,Hoffmann K,Diers A,Zimmer C,Sperling K,Mundlos S

更新日期：2006-05-01 00:00:00

abstract：:An infant with congenital chondrodysplasia punctata with a secondary deformation of umbilical cord hernia is reported. The paper discusses deformation syndromes as anomalies due to unusual mechanical or intrinsic factors. ...

journal_title：Journal of medical genetics

authors： Chandavasu O,Desposito F

更新日期：1986-02-01 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：:Cytological and cytogenetic studies were performed on nucleated fetal cells present in chorionic villus transport medium. The erythroblastic origin of these cells was shown. Fetal erythroblasts in spontaneous mitosis were frequently observed; chromosome counts were obtained from them but poor quality often prevented b...

journal_title：Journal of medical genetics

authors： Terzoli G,Cartolano R,Rossella F,Cantù-Rajnoldi A,Brambati B,Fraccaro M,Simoni G

更新日期：1992-10-01 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

abstract：PURPOSE:To determine a gene locus for a family with a dominantly inherited vestibulocerebellar disorder characterised by early onset, but not congenital nystagmus. DESIGN:Observational and experimental study. METHODS:We carried out a phenotypic study of a unique four generation family with nystagmus. We performed gen...

journal_title：Journal of medical genetics

authors： Ragge NK,Hartley C,Dearlove AM,Walker J,Russell-Eggitt I,Harris CM

更新日期：2003-01-01 00:00:00

abstract：:In type I familial amyloid polyneuropathy (FAP) caused by a variant Met30-transthyretin (TTR), genetic anticipation has been reported. To determine whether anticipation of the disease is a true biological phenomenon or the result of ascertainment bias, we compared age at onset of the affected child with that of the af...

journal_title：Journal of medical genetics

authors： Yamamoto K,Ikeda S,Hanyu N,Takeda S,Yanagisawa N

更新日期：1998-01-01 00:00:00

abstract：:It has recently been emphasised that a subset of patients with type 2 Gaucher disease die in the neonatal period. This report describes an Afghani family with two conceptuses having severe, prenatally detected Gaucher disease. Mutational analysis showed that the family carried a known complex allele which included mut...

journal_title：Journal of medical genetics

authors： Sidransky E,Tayebi N,Stubblefield BK,Eliason W,Klineburgess A,Pizzolato GP,Cox JN,Porta J,Bottani A,DeLozier-Blanchet CD

更新日期：1996-02-01 00:00:00

abstract：:A female infant with thanatophoric dysplasia was found to have a de novo translocation involving chromosomes 1 and 10. The chromosome abnormality may represent an important clue in identifying the locus for the candidate gene responsible for this lethal skeletal dysplasia. ...

journal_title：Journal of medical genetics

authors： Hersh JH,Yen FF,Peiper SC,Barch MJ,Yacoub OA,Voss DH,Roberts JL

更新日期：1995-04-01 00:00:00

abstract：BACKGROUND:Segmental duplications at breakpoints (BP4-BP5) of chromosome 15q13.2q13.3 mediate a recurrent genomic imbalance syndrome associated with mental retardation, epilepsy, and/or electroencephalogram (EEG) abnormalities. PATIENTS:DNA samples from 1445 unrelated patients submitted consecutively for clinical arra...

journal_title：Journal of medical genetics

authors： Miller DT,Shen Y,Weiss LA,Korn J,Anselm I,Bridgemohan C,Cox GF,Dickinson H,Gentile J,Harris DJ,Hegde V,Hundley R,Khwaja O,Kothare S,Luedke C,Nasir R,Poduri A,Prasad K,Raffalli P,Reinhard A,Smith SE,Sobeih MM,S

更新日期：2009-04-01 00:00:00

abstract：:We report a female case of orofaciodigital syndrome type I (OFD I) associated with polycystic kidneys and agenesis of the corpus callosum. She had chronic renal failure requiring maintenance dialysis and significant neurological deficits. Her mother had less severe OFD I associated with polycystic kidneys but her rena...

journal_title：Journal of medical genetics

authors： Connacher AA,Forsyth CC,Stewart WK

更新日期：1987-02-01 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:Sensenbrenner syndrome is a heterogeneous ciliopathy that is characterised by skeletal and ectodermal anomalies, accompanied by chronic renal failure, heart defects, liver fibrosis and other features. OBJECTIVE:To identify an additional causative gene in Sensenbrenner syndrome. METHODS:Single nucleotide po...

journal_title：Journal of medical genetics

authors： Arts HH,Bongers EM,Mans DA,van Beersum SE,Oud MM,Bolat E,Spruijt L,Cornelissen EA,Schuurs-Hoeijmakers JH,de Leeuw N,Cormier-Daire V,Brunner HG,Knoers NV,Roepman R

更新日期：2011-06-01 00:00:00

abstract：:A 10 1/2 year old female with skeletal abnormalities was referred for genetic consultation because of learning disabilities and a suggestion of 'Turner-like' stigmata. Cytogenetic analysis revealed a paracentric inversion of an X(q13.1q26.1) chromosome. ...

journal_title：Journal of medical genetics

authors： Herr HM,Horton SJ,Scott CI Jr

更新日期：1985-04-01 00:00:00

abstract：:Fetal akinesia refers to a broad spectrum of disorders in which the unifying feature is a reduction or lack of fetal movement. Fetal akinesias may be caused by defects at any point along the motor system pathway including the central and peripheral nervous system, the neuromuscular junction and the muscle, as well as ...

journal_title：Journal of medical genetics

authors： Ravenscroft G,Sollis E,Charles AK,North KN,Baynam G,Laing NG

更新日期：2011-12-01 00:00:00

abstract：BACKGROUND:We report here clinical, cytogenetic and molecular data for a pair of monochorionic diamniotic twins with paternal isodisomy for chromosome 19. Both twins presented with dysmorphic features and global developmental delay. This represents, to our knowledge, the first individual human case of paternal uniparen...

journal_title：Journal of medical genetics

authors： Yeung KS,Ho MSP,Lee SL,Kan ASY,Chan KYK,Tang MHY,Mak CCY,Leung GKC,So PL,Pfundt R,Marshall CR,Scherer SW,Choufani S,Weksberg R,Hon-Yin Chung B

更新日期：2018-12-01 00:00:00