Partial trisomy 6p and partial trisomy 22 resulting from 3:1 meiotic disjunction of maternal (6p;22q) translocation.

abstract：:Although a seasonal trend in the birth distribution has been reported in cystic fibrosis (CF), this finding is still very controversial. The birth distribution of 113 patients with cystic fibrosis born in Saguenay-Lac-St-Jean (complete ascertainment) was analysed using two different statistical methods. Our results sh...

journal_title：Journal of medical genetics

authors： Daigneault J,Aubin G,Simard F,De Braekeleer M

更新日期：1991-09-01 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：BACKGROUND:The use of array comparative genome hybridisation (CGH) analyses for investigation of children with mental retardation has led to the identification of a growing number of new microdeletion and microduplication syndromes, some of which have become clinically well characterised and some that await further del...

journal_title：Journal of medical genetics

authors： Roos L,Jønch AE,Kjaergaard S,Taudorf K,Simonsen H,Hamborg-Petersen B,Brøndum-Nielsen K,Kirchhoff M

更新日期：2009-10-01 00:00:00

abstract：:We present an extended family with Li-Fraumeni syndrome characterised by gastric and breast carcinoma, glioma, sarcoma, and leukaemia. This family showed strong evidence of linkage to TP53, and three of four tumours analysed showed loss of the wild type allele. A codon 175 missense mutation was identified in exon 5 in...

journal_title：Journal of medical genetics

authors： Varley JM,McGown G,Thorncroft M,Tricker KJ,Teare MD,Santibanez-Koref MF,Martin J,Birch JM,Evans DG

更新日期：1995-12-01 00:00:00

abstract：:An X-linked pattern of transmission observed in four families with familial mental retardation in several generations was associated with a probable secondary constriction at the distal end of the q arms of the X chromosome. Twenty retarded males and no retarded females were observed. All available live retarded males...

journal_title：Journal of medical genetics

authors： Harvey J,Judge C,Wiener S

更新日期：1977-02-01 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：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：:The first Scottish family with pycnodysostosis is reported. The clinical and radiological findings in the two affected men are recorded. ...

journal_title：Journal of medical genetics

authors： Mills KL,Johnston AW

更新日期：1988-08-01 00:00:00

abstract：BACKGROUND:Consensus clinical diagnostic criteria for neurofibromatosis type I (NF1) include café-au-lait macules and skinfold freckling. The former are frequently the earliest manifestation of NF1, and as such are of particular significance when assessing young children at risk of the condition. A phenotype of predomi...

journal_title：Journal of medical genetics

authors： Burkitt Wright EM,Sach E,Sharif S,Quarrell O,Carroll T,Whitehouse RW,Upadhyaya M,Huson SM,Evans DG

更新日期：2013-09-01 00:00:00

abstract：BACKGROUND:Birt-Hogg-Dubé syndrome (BHDS) is an inherited autosomal genodermatosis characterised by fibrofolliculomas of the skin, renal tumours and multiple lung cysts. Genetic studies have disclosed that the clinical picture as well as responsible germline FLCN mutations are diverse. OBJECTIVES:BHDS may be caused by...

journal_title：Journal of medical genetics

authors： Kunogi M,Kurihara M,Ikegami TS,Kobayashi T,Shindo N,Kumasaka T,Gunji Y,Kikkawa M,Iwakami S,Hino O,Takahashi K,Seyama K

更新日期：2010-04-01 00:00:00

abstract：:Shortening of the tubular bones of the hands and feet with cone shaped epiphyses is known as peripheral dysostosis and is common to several syndromes including acrodysostosis and Albright's hereditary osteodystrophy (AHO). The underlying defect in AHO is known to be a reduction in bioactivity of the alpha subunit of t...

journal_title：Journal of medical genetics

authors： Wilson LC,Oude Luttikhuis ME,Baraitser M,Kingston HM,Trembath RC

更新日期：1997-02-01 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：:In order to identify a gene(s) susceptible to idiopathic pulmonary fibrosis (IPF), we conducted a genome-wide association (GWA) study by genotyping 159 patients with IPF and 934 controls for 214 508 tag single-nucleotide polymorphisms (SNPs). We further evaluated selected SNPs in a replication sample set (83 cases and...

journal_title：Journal of medical genetics

authors： Mushiroda T,Wattanapokayakit S,Takahashi A,Nukiwa T,Kudoh S,Ogura T,Taniguchi H,Kubo M,Kamatani N,Nakamura Y,Pirfenidone Clinical Study Group.

更新日期：2008-10-01 00:00:00

abstract：BACKGROUND:Limb-girdle muscular dystrophy type R1 (LGMDR1) can be caused by recessive CAPN3 mutations accounting for the majority of LGMD. To date, no systemic evaluation has been performed to analyse the detrimental and normal mutations on CAPN3 and its hotspots. METHODS:CAPN3 variants (n=112) from a total of 124 pat...

journal_title：Journal of medical genetics

authors： Zhong H,Zheng Y,Zhao Z,Lin P,Xi J,Zhu W,Lin J,Lu J,Yu M,Zhang W,Lv H,Yan C,Hu J,Wang Z,Lu J,Zhao C,Yuan Y,Luo S

更新日期：2020-09-29 00:00:00

abstract：BACKGROUND:Following predictive testing for Huntington disease (HD), knowledge of one's carrier status may have consequences on disease onset. Our study aimed to address two questions. First, does knowledge of being a carrier of the pathological HD mutation trigger onset of the disease? Second, does this knowledge infl...

journal_title：Journal of medical genetics

authors： Gargiulo M,Tezenas du Montcel S,Jutras MF,Herson A,Cazeneuve C,Durr A

更新日期：2017-08-01 00:00:00

abstract：:Costovertebral dysplasia comprises multiple malformations of the vertebrae and ribs, with a characteristic clinical picture of short trunk dwarfism, short neck, scoliosis, and rib cage deformity. We describe two sibs with the syndrome who are presumed to represent the autosomal recessive form of the disorder. One sib ...

journal_title：Journal of medical genetics

authors： David TJ,Glass A

更新日期：1983-12-01 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：:New techniques of DNA analysis have been applied to the prenatal diagnosis of the common haemoglobin disorders. Currently, it is possible to provide a comprehensive programme for the prevention of these conditions, although this entails the use of several different techniques including globin chain synthesis analysis,...

journal_title：Journal of medical genetics

authors： Weatherall DJ,Old JM,Thein SL,Wainscoat JS,Clegg JB

更新日期：1985-12-01 00:00:00

abstract：:The evidence that genetic and immunogenetic influences operate in the causation of pre-eclampsia/eclampsia (gestosis) is reviewed. The problems of definitive diagnosis are discussed along with the possibility of a multifactorial aetiology. The difficulties of differentiating trigger and effector mechanisms are also co...

journal_title：Journal of medical genetics

authors： Scott JS,Jenkins DM

更新日期：1976-06-01 00:00:00

abstract：:Dominantly inherited osteogenesis imperfecta is consistently linked to the two loci encoding the alpha 1 and alpha 2 subunits of collagen 1, the predominant bone collagen. We have performed several prenatal diagnoses based on identification of the segregating allele at the concordant locus in chorionic villus samples ...

journal_title：Journal of medical genetics

authors： Lynch JR,Ogilvie D,Priestley L,Baigrie C,Smith R,Farndon P,Sykes B

更新日期：1991-03-01 00:00:00

abstract：:The detailed clinical features and progress of a child with homozygous alpha 2(I) collagen deficiency are described. Clinically, the disease presents as severe progressive Sillence type III osteogenesis imperfecta. The main biochemical defect is the synthesis of an abnormal pro alpha 2(I) chain which does not associat...

journal_title：Journal of medical genetics

authors： Nicholls AC,Osse G,Schloon HG,Lenard HG,Deak S,Myers JC,Prockop DJ,Weigel WR,Fryer P,Pope FM

更新日期：1984-08-01 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：:Myotonic dystrophy (DM) is associated with the expansion and instability of a trinucleotide (CTG) repeat at the DM locus on chromosome 19. Direct genomic analysis in the German population was carried out on 18 DM families, six families with equivocal diagnosis, 69 subjects with equivocal clinical diagnosis, and 100 co...

journal_title：Journal of medical genetics

authors： Meiner A,Wolf C,Carey N,Okitsu A,Johnson K,Shelbourne P,Kunath B,Sauermann W,Thiele H,Kupferling P

更新日期：1995-08-01 00:00:00

abstract：:The accidental discovery, in an inguinal hernia, of a male gonad in a 67-year-old woman is reported. The association of an unambiguous female phenotype with a purely male karyotype and a male gonad suggests the diagnosis of testicular feminisation. The differential diagnosis, particularly of testicular feminisation wi...

journal_title：Journal of medical genetics

authors： Schindler AM,Csank-Brassert J

更新日期：1978-06-01 00:00:00

abstract：:Germline mutations of the LKB1 (STK11) serine/threonine kinase gene (chromosome 19p13.3) cause Peutz-Jeghers syndrome, which is characterised by hamartomas of the gastrointestinal tract and typical pigmentation. Peutz-Jeghers syndrome carries an overall risk of cancer that may be up to 20 times that of the general pop...

journal_title：Journal of medical genetics

authors： Wang ZJ,Churchman M,Avizienyte E,McKeown C,Davies S,Evans DG,Ferguson A,Ellis I,Xu WH,Yan ZY,Aaltonen LA,Tomlinson IP

更新日期：1999-05-01 00:00:00

abstract：BACKGROUND:Four genetic causes of isolated congenital central hypothyroidism (CeH) have been identified, but many cases remain unexplained. We hypothesised the existence of other genetic causes of CeH with a Mendelian inheritance pattern. METHODS:We performed exome sequencing in two families with unexplained isolated ...

journal_title：Journal of medical genetics

authors： Heinen CA,de Vries EM,Alders M,Bikker H,Zwaveling-Soonawala N,van den Akker ELT,Bakker B,Hoorweg-Nijman G,Roelfsema F,Hennekam RC,Boelen A,van Trotsenburg ASP,Fliers E

更新日期：2018-10-01 00:00:00

abstract：BACKGROUND:Recessive forms of osteogenesis imperfecta (OI) may be caused by mutations in LEPRE1, encoding prolyl 3-hydroxylase-1 (P3H1) or in CRTAP, encoding cartilage associated protein. These proteins constitute together with cyclophilin B (CyPB) the prolyl 3-hydroxylation complex that hydroxylates the Pro986 residue...

journal_title：Journal of medical genetics

authors： Willaert A,Malfait F,Symoens S,Gevaert K,Kayserili H,Megarbane A,Mortier G,Leroy JG,Coucke PJ,De Paepe A

更新日期：2009-04-01 00:00:00

abstract：BACKGROUND:The SCN8A gene on chromosome 12q13 encodes the voltage gated sodium channel Na(v)1.6, which is widely expressed in neurons of the CNS and PNS. Mutations in the mouse ortholog of SCN8A result in ataxia and other movement disorders. METHODS:We screened the 26 coding exons of SCN8A in 151 patients with inherit...

journal_title：Journal of medical genetics

authors： Trudeau MM,Dalton JC,Day JW,Ranum LP,Meisler MH

更新日期：2006-06-01 00:00:00

abstract：:Cultivated cells obtained by amniocentesis for antenatal diagnosis were examined for the presence of keratin filaments by immunofluorescent staining techniques. In primary cultures, cells in fibroblast type colonies do not possess keratin filaments whereas cells in epithelial type colonies show positive staining of ke...

journal_title：Journal of medical genetics

authors： Chen WW

更新日期：1982-12-01 00:00:00

abstract：BACKGROUND:Nerve growth factor β (NGFβ) and tyrosine kinase receptor type A (TRKA) are a well studied neurotrophin/receptor duo involved in neuronal survival and differentiation. The only previously reported hereditary sensory neuropathy caused by an NGF mutation, c.661C>T (HSAN5), and the pathology caused by biallelic...

journal_title：Journal of medical genetics

authors： Carvalho OP,Thornton GK,Hertecant J,Houlden H,Nicholas AK,Cox JJ,Rielly M,Al-Gazali L,Woods CG

更新日期：2011-02-01 00:00:00