The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease.

abstract：:This is a study of 138 index patients with retinitis pigmentosa (RP) and their families, in which the selection of index patients was solely on the basis of their residence in Birmingham. Clinical analysis showed that severe disease was as likely to indicate dominant or non-genetic RP as to indicate recessive disease,...

journal_title：Journal of medical genetics

authors： Bundey S,Crews SJ

更新日期：1984-12-01 00:00:00

abstract：BACKGROUND:The clinical phenotypes of females with fragile X full mutations vary drastically. Comparisons of discordant monozygotic twins provide opportunities to ascertain crucial factors that influence disease phenotype penetrance. OBJECTIVE:To identify crucial factors influencing the phenotypic expression of fragil...

journal_title：Journal of medical genetics

authors： Huang W,Luo S,Ou J,Zhu F,Xia Y,Xue J,Pan Q,Wu L,Duan R

更新日期：2014-03-01 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：: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 5-month-old infant was examined because of minor multiple malformations. He was found to have a de novo blanced reciprocal translocation 46,XY,t(6;8(q13;q22). On follow-up at the age of 17 months his mental development was found to be within normal limits. ...

journal_title：Journal of medical genetics

authors： Fried K,Rosenblatt M,Mundel G

更新日期：1977-04-01 00:00:00

abstract：:We report the occurrence of progressive Brown-Séquard syndrome as the presenting clinical feature of cervical spondylosis in a young patient with Stickler's syndrome. ...

journal_title：Journal of medical genetics

authors： Noël S,Balériaux D,Telerman-Toppet N

更新日期：1992-03-01 00:00:00

abstract：:A malformed female infant is described. In addition to cardiac, renal, and skeletal (rib) anomalies, severe intrauterine growth retardation and distinct facial dysmorphism were present. The question is raised whether this child represents a new syndrome. ...

journal_title：Journal of medical genetics

authors： de Die-Smulders CE,Droog RP,van Dijk M,Fryns JP

更新日期：1993-06-01 00:00:00

abstract：:An association between Gaucher disease and Parkinson disease has been demonstrated by the concurrence of Gaucher disease and parkinsonism in rare patients and the identification of glucocerebrosidase mutations in probands with sporadic Parkinson disease. Using a different and complementary approach, we describe 10 unr...

journal_title：Journal of medical genetics

authors： Goker-Alpan O,Schiffmann R,LaMarca ME,Nussbaum RL,McInerney-Leo A,Sidransky E

更新日期：2004-12-01 00:00:00

abstract：:A 13 year old girl was referred with congenital microcephaly, developmental delay, a prominent nose, highly arched palate, and an apparently low set left ear. She was found to have a pericentric inversion of one chromosome 7 and a ring chromosome 8, 46,XX,inv(7) (pter----p22::q11.23----p22::q11.23----qter), r(8) (p23q...

journal_title：Journal of medical genetics

authors： Verma RS,Conte RA,Pitter JH,Luke S

更新日期：1992-01-01 00:00:00

abstract：:Twenty-six patients with Gaucher's disease diagnosed in the United Kingdom and two obligate carriers, all of non-Jewish origin, were screened for the two common disease causing mutations and two rarer mutations in the glucocerebrosidase gene. These mutations are referred to as N370S, L444P, Ins84G, and 1066 + 1G-->A, ...

journal_title：Journal of medical genetics

authors： Walley AJ,Barth ML,Ellis I,Fensom AH,Harris A

更新日期：1993-04-01 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 chromosomes of a male patient who suffers from Duchenne muscular dystrophy (DMD) with a molecular deletion were examined with an improved high resolution R type replication banding technique. High resolution cytogenetic analysis of the proband revealed a deletion of the Xp21.13 subband. His healthy mother was hete...

journal_title：Journal of medical genetics

authors： Werner W,Spiegler AW

更新日期：1988-06-01 00:00:00

abstract：:A new dicentric X isochromosome i(X)(pter to q2102 to pter) of similar size to a normal X is described in a girl with gonadal dysgenesis. In this non-mosaic case with an X short arm duplication, most of the stigmata associated with Turner's syndrome were absent. This structure was compared with that of six i(Xq) and t...

journal_title：Journal of medical genetics

authors： Daniel A,Saville T,Southall DB

更新日期：1979-08-01 00:00:00

abstract：:Mutations in genes involved in Ras signalling cause Noonan syndrome and other disorders characterised by growth disturbances and variable neuro-cardio-facio-cutaneous features. We describe two sisters, 46 and 31 years old, who presented with dysmorphic features, hypotonia, feeding difficulties, retarded growth and psy...

journal_title：Journal of medical genetics

authors： Søvik O,Schubbert S,Houge G,Steine SJ,Norgård G,Engelsen B,Njølstad PR,Shannon K,Molven A

更新日期：2007-07-01 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 FKHL7 gene has been implicated in the pathogenesis of glaucoma/autosomal dominant iridogoniodysgenesis (IGDA) (IRID1). This has been supported by mutations in some glaucoma and IGDA patients and the development of anterior eye chamber anomalies in patients with 6p deletions affecting the 6p25 region. We report a c...

journal_title：Journal of medical genetics

authors： Davies AF,Mirza G,Flinter F,Ragoussis J

更新日期：1999-09-01 00:00:00

abstract：:Generalised recessive dystrophic epidermolysis bullosa (EB) is a severe inherited disease in which patients suffer from blistering and scarring of the skin and mucous membranes after minor mechanical trauma. Tight genetic linkage has been established to the type VII collagen gene (COL7A1) at 3p21, with no evidence of ...

journal_title：Journal of medical genetics

authors： Dunnill MG,Rodeck CH,Richards AJ,Atherton D,Lake BD,Petrou M,Eady RA,Pope FM

更新日期：1995-09-01 00:00:00

abstract：:Retinal photoreceptor dystrophies (RD) are a highly heterogeneous group of genetic disorders of the retina, representing the most frequently inherited form of visual handicap, affecting approximately 1.5 million people world wide. To date, more than 40 genetic loci have been implicated in RD. One of them, the CORD2 lo...

journal_title：Journal of medical genetics

authors： Papaioannou M,Bessant D,Payne A,Bellingham J,Rougas C,Loutradis-Anagnostou A,Gregory-Evans C,Balassopoulou A,Bhattacharya S

更新日期：1998-05-01 00:00:00

abstract：:Primary ciliary dyskinesia is an autosomal recessive condition characterised by chronic sinusitis, bronchiectasis, and subfertility. Situs inversus occurs in 50% of cases (Kartagener syndrome). It has an estimated incidence of 1 in 20 000 live births. The clinical phenotype is caused by defective ciliary function asso...

journal_title：Journal of medical genetics

authors： Meeks M,Walne A,Spiden S,Simpson H,Mussaffi-Georgy H,Hamam HD,Fehaid EL,Cheehab M,Al-Dabbagh M,Polak-Charcon S,Blau H,O'Rawe A,Mitchison HM,Gardiner RM,Chung E

更新日期：2000-04-01 00:00:00

abstract：:X linked hypohidrotic ectodermal dysplasia (XHED) affects many epithelial functions, including sweat gland formation. Female carriers who manifest XHED may have defective dentition or a patchy distribution of sweating or both, as determined by starch and iodine sweat testing. Such sweat testing can be useful in assign...

journal_title：Journal of medical genetics

authors： Clarke A,Burn J

更新日期：1991-05-01 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：INTRODUCTION:Interpretation of results from mutation screening of tumour suppressor genes known to harbour high risk susceptibility mutations, such as APC, BRCA1, BRCA2, MLH1, MSH2, TP53, and PTEN, is becoming an increasingly important part of clinical practice. Interpretation of truncating mutations, gene rearrangemen...

journal_title：Journal of medical genetics

authors： Abkevich V,Zharkikh A,Deffenbaugh AM,Frank D,Chen Y,Shattuck D,Skolnick MH,Gutin A,Tavtigian SV

更新日期：2004-07-01 00:00:00

abstract：:A 2-year-old boy with mental and growth retardation is presented; he has a 46,XY,r(10)(p15q26) chromosome complement. Five previously reported cases of ring chromosome 10 were reviewed and compared with the present case in an attempt to delineate a clinical syndrome. Since the first description, identified by Giemsa b...

journal_title：Journal of medical genetics

authors： Nakai H,Adachi M,Katsushima N,Yamazaki N,Sakamoto M,Tada K

更新日期：1983-04-01 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：:Bardet-Biedl syndrome (BBS) is an autosomal recessive condition characterised by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction. BBS expression varies both within and between families and diagnosis is often difficult. We sought to define the conditio...

journal_title：Journal of medical genetics

authors： Beales PL,Elcioglu N,Woolf AS,Parker D,Flinter FA

更新日期：1999-06-01 00:00:00

abstract：BACKGROUND:Results of a Scandinavian genome scan in type 1 diabetes mellitus (T1D) have recently been reported. Among the novel, not previously reported chromosomal regions showing linkage to T1D was a region on chromosome 21. OBJECTIVE:To fine map this region on chromosome 21. METHODS AND RESULTS:The linked region w...

journal_title：Journal of medical genetics

authors： Bergholdt R,Nerup J,Pociot F

更新日期：2005-01-01 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：BACKGROUND:Ethylmalonic encephalopathy (EE) is a rare autosomal recessive metabolic disorder characterised by progressive encephalopathy, recurrent petechiae, acrocyanosis and chronic diarrhoea, with a fatal outcome in early in life. METHODS:14 patients with EE were investigated for mutations in the ETHE1 gene. RESUL...

journal_title：Journal of medical genetics

authors： Mineri R,Rimoldi M,Burlina AB,Koskull S,Perletti C,Heese B,von Döbeln U,Mereghetti P,Di Meo I,Invernizzi F,Zeviani M,Uziel G,Tiranti V

更新日期：2008-07-01 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：: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