A new family of Greek origin maps to the CRD locus for autosomal dominant cone-rod dystrophy on 19q.

abstract：:The search for the genes responsible for many complex genetic diseases is well under way and has already been successful in some cases. The study of cancer as a complex genetic disease has lagged behind other conditions, largely because of particular problems that are associated with malignant disease. Cancer also, ho...

journal_title：Journal of medical genetics

authors： Houlston RS,Tomlinson IP

更新日期：2000-03-01 00:00:00

abstract：:Congenital heart defects are a major congenital abnormality and are assuming increasing importance. A study was undertaken to estimate the incidence of congenital heart defects in Northern Ireland over a five year period (1974-1978), to determine the age at diagnosis and to assess the risk of recurrence in sibs. An in...

journal_title：Journal of medical genetics

authors： Hanna EJ,Nevin NC,Nelson J

更新日期：1994-11-01 00:00:00

abstract：:A patient with a typical Down syndrome (DS) phenotype and a normal karyotype was studied by FISH. Using painting probes, we found that the patient had partial trisomy of chromosome 21 owing to an unbalanced translocation t(15;21) (q26; q22.1) of paternal origin. To correlate genotype with phenotype as accurately as po...

journal_title：Journal of medical genetics

authors： Nadal M,Moreno S,Pritchard M,Preciado MA,Estivill X,Ramos-Arroyo MA

更新日期：1997-01-01 00:00:00

abstract：:A study of mutation, biological fitness, and patterns of family building in Huntington's chorea has been carried out, based on a previously reported population study of the disorder in South Wales. No unequivocal new mutation was identified among 101 kindreds containing 418 affected persons, which supports the extreme...

journal_title：Journal of medical genetics

authors： Walker DA,Harper PS,Newcombe RG,Davies K

更新日期：1983-02-01 00:00:00

abstract：:We report four patients with hypertrichosis cubiti who were referred for investigation of short stature. Two males, whose height was on and just below the 3rd centile respectively, were sporadic cases and two females with disproportionate short stature were mother and daughter. Radiological changes present in the fami...

journal_title：Journal of medical genetics

authors： MacDermot KD,Patton MA,Williams MJ,Winter RM

更新日期：1989-06-01 00:00:00

abstract：:We report a 20 year old man with short stature, microcephaly, unusual facies, numerous pigmented naevi, hypodontia, immunodeficiency, and a high pitched voice. Tympner et al had assumed that the patient had a new syndrome of "progressive combined immunodeficiency and ectomesodermal dysplasia". We show here that the co...

journal_title：Journal of medical genetics

authors： Bartsch O,Tympner KD,Schwinger E,Gorlin RJ

更新日期：1994-09-01 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：:The ICF syndrome is a rare disorder where patients show undercondensation of the heterochromatic blocks of chromosomes 1, 9, and 16 along with variable immunodeficiency. The undercondensation of the heterochromatic block appears to be restricted to a portion of PHA stimulated T cells. Patients with this syndrome also ...

journal_title：Journal of medical genetics

authors： Stacey M,Bennett MS,Hulten M

更新日期：1995-07-01 00:00:00

abstract：:Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive multisystem disorder caused by thymidine phosphorylase (TP) deficiency, resulting in severe gastrointestinal dysmotility and skeletal muscle abnormalities. A patient is reported with a classical MNGIE clinical presentation but with...

journal_title：Journal of medical genetics

authors： Szigeti K,Wong LJ,Perng CL,Saifi GM,Eldin K,Adesina AM,Cass DL,Hirano M,Lupski JR,Scaglia F

更新日期：2004-02-01 00:00:00

abstract：:Chromosome analysis of an infant with characteristic features of trisomy 18 is presented. The chromosome complement contained a modal count of 47 but there was only one No. 18. In addition, there were two metacentric chromosomes of different sizes. The two metacentric chromosomes were identified by G- and C-banding to...

journal_title：Journal of medical genetics

authors： Larson LM,Wasdahl WA,Saumur JH,Coleman ML,Jalal SM

更新日期：1978-02-01 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：:The autosomal recessive limb-girdle muscular dystrophies (LGMD) represent a heterogeneous group of diseases which may be characterised by one or more autosomal loci. A gene at 15q has recently been found to be responsible for a mild form of LGMD in a group of families from the isolated island of Réunion, now classifie...

journal_title：Journal of medical genetics

authors： Passos-Bueno MR,Richard I,Vainzof M,Fougerousse F,Weissenbach J,Broux O,Cohen D,Akiyama J,Marie SK,Carvalho AA

更新日期：1993-05-01 00:00:00

abstract：BACKGROUND:Heart-hand syndromes are a heterogeneous group of genetic disorders characterised by the association of congenital cardiac disease and limb deformities. Laminopathies are a group of diseases caused by mutations in the LMNA gene encoding A-type lamins. RESULTS:We report a new LMNA mutation (c.1609-12T>G, IVS...

journal_title：Journal of medical genetics

authors： Renou L,Stora S,Yaou RB,Volk M,Sinkovec M,Demay L,Richard P,Peterlin B,Bonne G

更新日期：2008-10-01 00:00:00

abstract：:Germline mutations in four human mismatch repair genes (MSH2, MLH1, PMS1, and PMS2) have been reported to cause hereditary non-polyposis colon cancer syndrome (HNPCC). The identification of germline mutations in HNPCC kindreds allows precise diagnosis and accurate predictive testing. To investigate further the genetic...

journal_title：Journal of medical genetics

authors： Froggatt NJ,Brassett C,Koch DJ,Evans DG,Hodgson SV,Ponder BA,Maher ER

更新日期：1996-09-01 00:00:00

abstract：BACKGROUND:Truncus arteriosus (TA) is characterised by failure of septation of the outflow tract into aortic and pulmonary trunks and is associated with high morbidity and mortality. Although ranked among the least common congenital heart defects, TA provides an excellent model for the role of individual genes in cardi...

journal_title：Journal of medical genetics

authors： Shaheen R,Al Hashem A,Alghamdi MH,Seidahmad MZ,Wakil SM,Dagriri K,Keavney B,Goodship J,Alyousif S,Al-Habshan FM,Alhussein K,Almoisheer A,Ibrahim N,Alkuraya FS

更新日期：2015-05-01 00:00:00

abstract：BACKGROUND:Spontaneous read-through of a premature termination codon (PTC) has so far not been observed in patients carrying nonsense mutations. This report describes a patient with junctional epidermolysis bullosa who was expected to die because of compound heterozygous nonsense mutations in the gene LAMA3 (R943X/R115...

journal_title：Journal of medical genetics

authors： Pacho F,Zambruno G,Calabresi V,Kiritsi D,Schneider H

更新日期：2011-09-01 00:00:00

abstract：:A large tuberous sclerosis multigenerational family segregating with markers on chromosome 9q from the TSC1 region was studied with a new highly polymorphic marker (designated A6) from the region. A critical affected person showed recombination with the marker, eliminating approximately 100 kilobases from the telomeri...

journal_title：Journal of medical genetics

authors： Au KS,Murrell J,Buckler A,Blanton SH,Northrup H

更新日期：1996-07-01 00:00:00

abstract：BACKGROUND:DLG5 p.R30Q has been reported to be associated with Crohn disease (CD), but this association has not been replicated in most studies. A recent analysis of gender-stratified data from two case-control studies and two population cohorts found an association of DLG5 30Q with increased risk of CD in men but not ...

journal_title：Journal of medical genetics

authors： Browning BL,Annese V,Barclay ML,Bingham SA,Brand S,Büning C,Castro M,Cucchiara S,Dallapiccola B,Drummond H,Ferguson LR,Ferraris A,Fisher SA,Gearry RB,Glas J,Henckaerts L,Huebner C,Knafelz D,Lakatos L,Lakatos PL,La

更新日期：2008-01-01 00:00:00

abstract：:A baby with a 46,XY,r(20) karyotype is described. The distinguishing features of this rare chromosome anomaly are analysed in the light of the suggested r(20) syndrome. ...

journal_title：Journal of medical genetics

authors： Porfirio B,Valorani MG,Giannotti A,Sabetta G,Dallapiccola B

更新日期：1987-06-01 00:00:00

abstract：BACKGROUND:Several different missense mutations in the voltage-gated sodium channel subunit gene SCN1A have been identified in epileptic patients with benign phenotype and patients with severe phenotype. However, the reason why similar missense mutations in SCN1A result in different phenotypes has not yet been fully cl...

journal_title：Journal of medical genetics

authors： Kanai K,Yoshida S,Hirose S,Oguni H,Kuwabara S,Sawai S,Hiraga A,Fukuma G,Iwasa H,Kojima T,Kaneko S

更新日期：2009-10-01 00:00:00

abstract：:We have performed an extensive analysis of TP53 in 474 French families suggestive of Li-Fraumeni syndrome (LFS), including 232 families fulfilling the Chompret criteria. We identified a germline alteration of TP53 in 82 families (17%), in 67/232 of the families fulfilling the Chompret criteria (29%) and in 15/242 whic...

journal_title：Journal of medical genetics

authors： Bougeard G,Sesboüé R,Baert-Desurmont S,Vasseur S,Martin C,Tinat J,Brugières L,Chompret A,de Paillerets BB,Stoppa-Lyonnet D,Bonaïti-Pellié C,Frébourg T,French LFS working group.

更新日期：2008-08-01 00:00:00

abstract：:In this report we describe two families with variable manifestations of the EEC syndrome. The findings in these families confirm that no symptom is obligatory for the diagnosis of EEC syndrome. In the absence of cleft lip/palate, EEC patients have a characteristic facial morphology with maxillary hypoplasia, short phi...

journal_title：Journal of medical genetics

authors： Fryns JP,Legius E,Dereymaeker AM,Van den Berghe H

更新日期：1990-03-01 00:00:00

abstract：:Classical genetic theory, based on assumed equal mutation rates in males and females, predicts that one-third of all cases of Duchenne muscular dystrophy (DMD) in a generation are born as new mutants to non-carrier mothers. Furthermore, less than half the mothers of apparently isolated cases appear to be carriers on t...

journal_title：Journal of medical genetics

authors： Lane RJ,Robinow M,Roses AD

更新日期：1983-02-01 00:00:00

abstract：BACKGROUND:Psoriasis is an immune-mediated skin disorder that is inherited as a multifactorial trait. Linkage analyses have clearly mapped a primary disease susceptibility locus to the major histocompatibility complex (MHC) region on chromosome 6p21. More recently, whole-genome association studies have identified two n...

journal_title：Journal of medical genetics

authors： Wolf N,Quaranta M,Prescott NJ,Allen M,Smith R,Burden AD,Worthington J,Griffiths CE,Mathew CG,Barker JN,Capon F,Trembath RC

更新日期：2008-02-01 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：: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：:This report describes a retarded girl with strabismus, high arched palate, antimongoloid slant, low set ears, hearing loss, micrognathia, short neck, and an anteriorly displaced anus. She was found to have a de novo partial trisomy of the proximal part of the long arm of chromosome 15. ...

journal_title：Journal of medical genetics

authors： Herweijer TJ,Oorthuys JW,Leschot NJ

更新日期：1988-04-01 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：: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：:The spontaneous and mitomycin C (MMC) induced sister chromatid exchange (SCE) frequencies were examined in five adults with myotonic dystrophy (MD). There was no significant difference in the spontaneous incidence of SCE between MD patients and controls. However, a significantly enhanced response to the induction of S...

journal_title：Journal of medical genetics

authors： Vijayalaxmi,Emery AE,Evans HJ

更新日期：1982-04-01 00:00:00