T cell receptor beta chain polymorphisms are associated with cystic fibrosis.

abstract：:Four studies reported an increasing incidence of pyloric stenosis during the late 1970s from geographically diverse areas of the United Kingdom. It was suggested that the increased incidence might be related to changes in infant feeding practices. We used data from the Metropolitan Atlanta Congenital Defects Program, ...

journal_title：Journal of medical genetics

authors： Lammer EJ,Edmonds LD

更新日期：1987-08-01 00:00:00

abstract：BACKGROUND:Junctional epidermolysis bullosa (JEB), a group of hereditary skin fragility disorders, is associated with a wide variety of phenotypes, although all forms are characterised by trauma induced skin blistering and tissue separation at the dermal-epidermal junction zone. A subgroup, coined JEB-other, is associa...

journal_title：Journal of medical genetics

authors： Kiritsi D,Kern JS,Schumann H,Kohlhase J,Has C,Bruckner-Tuderman L

更新日期：2011-07-01 00:00:00

abstract：:Glucocerebroside beta-glucosidase (glucocerebrosidase) activity was determined from peripheral blood lymphocytes and cultured skin fibroblasts of eight full sibs in a French-Canadian family at risk for Gaucher disease, an autosomal recessive sphingolipidosis resulting from deficient glucocerebrosidase activity. The di...

journal_title：Journal of medical genetics

authors： Choy FY

更新日期：1988-05-01 00:00:00

abstract：:We have previously mapped autosomal dominant spinocerebellar ataxia (SCA) 16 to 3p26, overlapping with the locus of SCA15. Recently, partial deletions of ITPR1 and the neighbouring SUMF1 in the SCA15 and two additional families were reported. In the present study we determined the copy number of these genes by real ti...

journal_title：Journal of medical genetics

authors： Iwaki A,Kawano Y,Miura S,Shibata H,Matsuse D,Li W,Furuya H,Ohyagi Y,Taniwaki T,Kira J,Fukumaki Y

更新日期：2008-01-01 00:00:00

abstract：:Gaucher disease results, in most patients, from mutations in the gene encoding glucocerebrosidase. Mutation D409H is the third most frequent in Spanish patients, accounting for 5.7% of all mutated alleles. This allele is associated mainly with the neurological forms of the disease. Recently, homozygosity for the D409H...

journal_title：Journal of medical genetics

authors： Chabás A,Gort L,Montfort M,Castelló F,Domínguez MC,Grinberg D,Vilageliu L

更新日期：1998-09-01 00:00:00

abstract：:The molecular characterisation of chromosomal aberrations in Xp22.3 has established the map position of several genes with mutations resulting in diverse phenotypes such as short stature (SS), chondrodysplasia punctata (CDPX), mental retardation (MRX), ichthyosis (XLI), and Kallmann syndrome (KAL). We describe the cli...

journal_title：Journal of medical genetics

authors： Meindl A,Hosenfeld D,Brückl W,Schuffenhauer S,Jenderny J,Bacskulin A,Oppermann HC,Swensson O,Bouloux P,Meitinger T

更新日期：1993-10-01 00:00:00

abstract：BACKGROUND:Genomic imprinting is a process causing genes to be expressed according to parental origin. Imprinting acts to coordinate fetal and prenatal growth, as well as control postnatal adaptations. Studies on human imprinting are confounded by tissue availability, sampling variability and limitations posed by tissu...

journal_title：Journal of medical genetics

authors： Lim AL,Ng S,Leow SC,Choo R,Ito M,Chan YH,Goh SK,Tng E,Kwek K,Chong YS,Gluckman PD,Ferguson-Smith AC

更新日期：2012-11-01 00:00:00

abstract：:Sorsby fundus dystrophy is an autosomal dominant disorder which both clinically and histopathologically bears striking similarities to age related macular degeneration, one of the leading causes of blindness in the developed world. Recent studies have suggested a genetic localisation of the disease to chromosome 22q i...

journal_title：Journal of medical genetics

authors： Gregory CY,Wijesuriya S,Evans K,Jay M,Bird AC,Bhattacharya SS

更新日期：1995-03-01 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：:We report two sibs with features overlapping those of orofaciodigital syndrome type VI (Varadi syndrome). Both presented at birth with oculomotor abnormalities, dysmorphic facial features, and dysgenesis of the cerebellar vermis. There were minimal oral manifestations (high arched palate) in both of them and one had p...

journal_title：Journal of medical genetics

authors： Al-Gazali LI,Sztriha L,Punnose J,Shather W,Nork M

更新日期：1999-02-01 00:00:00

abstract：:An estimated 15-50% of the population experiences pain at any given time, at great personal and societal cost. Pain is the most common reason patients seek medical attention, and there is a high degree of individual variability in reporting the incidence and severity of symptoms. Research suggests that pain sensitivit...

journal_title：Journal of medical genetics

authors： Young EE,Lariviere WR,Belfer I

更新日期：2012-01-01 00:00:00

abstract：BACKGROUND:The genetic causes of the majority of male and female infertility caused by human non-obstructive azoospermia (NOA) and premature ovarian insufficiency (POI) with meiotic arrest are unknown. OBJECTIVE:To identify the genetic cause of NOA and POI in two affected members from a consanguineous Chinese family. ...

journal_title：Journal of medical genetics

authors： He WB,Tu CF,Liu Q,Meng LL,Yuan SM,Luo AX,He FS,Shen J,Li W,Du J,Zhong CG,Lu GX,Lin G,Fan LQ,Tan YQ

更新日期：2018-03-01 00:00:00

abstract：:A brother and two sisters of remotely consanguineous parents had congenital laryngeal abductor paralysis and moderate mental retardation. In the two older sibs, mental deficiency could have resulted from birth asphyxia, but the youngest girl was already microcephalic at birth and had no apparent asphyxia. The mother, ...

journal_title：Journal of medical genetics

authors： Schinzel A,Hof E,Dangel P,Robinson W

更新日期：1990-11-01 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:Graves' disease is a female preponderant autoimmune illness and the contribution of the X chromosome to its risk has long been appreciated. However, no X-linked susceptibility loci have been indentified from recent genome-wide association studies (GWAS). METHODS:We re-examined the X chromosome data from our...

journal_title：Journal of medical genetics

authors： Chu X,Shen M,Xie F,Miao XJ,Shou WH,Liu L,Yang PP,Bai YN,Zhang KY,Yang L,Hua Q,Liu WD,Dong Y,Wang HF,Shi JX,Wang Y,Song HD,Chen SJ,Chen Z,Huang W

更新日期：2013-07-01 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：BACKGROUND:Clinical evaluation of CNVs identified via techniques such as array comparative genome hybridisation (aCGH) involves the inspection of lists of known and unknown duplications and deletions with the goal of distinguishing pathogenic from benign CNVs. A key step in this process is the comparison of the individ...

journal_title：Journal of medical genetics

authors： Köhler S,Schoeneberg U,Czeschik JC,Doelken SC,Hehir-Kwa JY,Ibn-Salem J,Mungall CJ,Smedley D,Haendel MA,Robinson PN

更新日期：2014-11-01 00:00:00

abstract：:A 4 year old boy is reported with tyrosinase positive hypopigmentation, mental retardation, ataxia, and myopia. Radiological investigation showed occipital cerebral atrophy, coxa valga, and generalised osteoporosis. The skin histology and electron microscopy are reported and discussed. The clinical features are simila...

journal_title：Journal of medical genetics

authors： Patton MA,Baraitser M,Heagerty AH,Eady RA

更新日期：1987-02-01 00:00:00

abstract：:Huntington's disease (HD) is an autosomal dominant condition with almost complete penetrance. The age of onset of the symptoms, however, is variable and depends on the parental origin of the gene. A high proportion of early onset cases inherit the HD gene from their father, whereas a considerable proportion of late on...

journal_title：Journal of medical genetics

authors： Reik W

更新日期：1988-12-01 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：INTRODUCTION AND METHODS:Since the concept of the "two hit hypothesis" was introduced over 20 years ago, a wealth of genetic data has accumulated on the mutations found at tumour suppressor loci. Perhaps surprisingly, these data conceal large gaps in our knowledge which genetic and functional studies are beginning to u...

journal_title：Journal of medical genetics

authors： Tomlinson IP,Roylance R,Houlston RS

更新日期：2001-02-01 00:00:00

abstract：BACKGROUND:Tibial pseudarthrosis is associated with neurofibromatosis type 1 (NF1) and there is wide clinical variability of the tibial dysplasia in NF1, suggesting the possibility of genetic modifiers. Double inactivation of NF1 is postulated to be necessary for the development of tibial pseudarthrosis, but tissue or ...

journal_title：Journal of medical genetics

authors： Sant DW,Margraf RL,Stevenson DA,Grossmann AH,Viskochil DH,Hanson H,Everitt MD,Rios JJ,Elefteriou F,Hennessey T,Mao R

更新日期：2015-04-01 00:00:00

abstract：:The development of some endocrine tumours, such as medullary thyroid carcinomas, phaeochromocytomas, anterior pituitary adenomas, and parathyroid adenomas involve a putative tumour suppressor gene located on chromosome 1p32-pter, a region that represents 111 cM. In order to refine the location of this gene, 93 endocri...

journal_title：Journal of medical genetics

authors： Williamson C,Pannett AA,Pang JT,Wooding C,McCarthy M,Sheppard MN,Monson J,Clayton RN,Thakker RV

更新日期：1997-08-01 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：: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：:This report describes 7-month-old monozygotic twin female infants with GM1 gangliosidosis type I. In addition to the usual clinical and biochemical abnormalities generalized intracutaneous telangiectasis were present in both infants. ...

journal_title：Journal of medical genetics

authors： Ginsburg CM,Long CG

更新日期：1977-04-01 00:00:00

abstract：:We have reviewed all known UK cases of Smith-Lemli-Opitz syndrome. Among 49 cases with proven 7-dehydrocholesterol reductase deficiency, half had been terminated or had died in infancy. The minimum incidence is 1 in 60,000. The frequent occurrence of hypospadias may account for 71% of recognised cases being male. Impo...

journal_title：Journal of medical genetics

authors： Ryan AK,Bartlett K,Clayton P,Eaton S,Mills L,Donnai D,Winter RM,Burn J

更新日期：1998-07-01 00:00:00

abstract：:The observation of Campbell and Price in 1979 that their Unit had diagnosed four subjects with both Klinefelter's syndrome and congenital hypothyroidism raised the suspicion of an association between the two conditions. This, and the published reports of an XX male, five XXY males, and one mosaic XY/XXY with congenita...

journal_title：Journal of medical genetics

authors： Sarri C,Côté GB,Mengreli C,Lambadaridis I,Pantelakis S

更新日期：1988-04-01 00:00:00

abstract：:Neurofibromatosis and myotonic dystrophy have occurred in ten members of a nonconsanguineous family with a high degree of concordance. The expression of neurofibromatosis is peripheral, and the expression of myotonic dystrophy has produced at least moderately severe disability. Neither disease has appeared to alter th...

journal_title：Journal of medical genetics

authors： Ichikawa K,Crosley CJ,Culebras A,Weitkamp L

更新日期：1981-04-01 00:00:00

abstract：:A method is described to investigate the inheritance of disease predisposition in cancer families. It is an extension of classic genetic linkage analysis, which enables information on loss of constitutional heterozygosity (LOCH) to be incorporated into the model. This adapted model treats LOCH data as additional obser...

journal_title：Journal of medical genetics

authors： Teare MD,Rohde K,Santibáñez Koref MF

更新日期：1994-06-01 00:00:00