Congenital renal tubular dysplasia and skull ossification defects similar to teratogenic effects of angiotensin converting enzyme (ACE) inhibitors.

abstract：:We describe a patient with the unusual association of cleft palate, bilateral choanal atresia, curly hair, and congenital hypothyroidism. This association has been reported before in two brothers and may represent a new syndrome. ...

journal_title：Journal of medical genetics

authors： Buntincx IM,Van Overmeire B,Desager K,Van Hauwaert J

更新日期：1993-05-01 00:00:00

abstract：:The phenotypic and quantitative relationship of red cell acid phosphatase with haemoglobin, haptoglobin, and G6PD phenotypes was investigated in three populations in the Sudan and one population in Nilgiris, India. No significant consistent association of red cell acid phosphatase phenotypes was observed with these po...

journal_title：Journal of medical genetics

authors： Saha N,Patgunarajah N

更新日期：1981-08-01 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：:Genetic linkage studies were performed in 16 British families affected by X linked ocular albinism (XLOA) using RFLPs from the Xp22.3 region. Linkage was confirmed between the XLOA locus (OA1) and the loci DXS143 (dic56; Zmax = 15.90 at theta = 0.0, confidence interval (CI) 0-0.035), DXS85 (782; Zmax = 15.67 at theta ...

journal_title：Journal of medical genetics

authors： Charles SJ,Moore AT,Yates JR

更新日期：1992-08-01 00:00:00

abstract：:We describe the clinical and cytogenetic findings of two patients with deletions of the long arm of chromosome 2. One has an interstitial deletion identical to that found in a previously reported patient, although they are phenotypically dissimilar. The other patient has a terminal deletion, the first such deletion re...

journal_title：Journal of medical genetics

authors： Young RS,Shapiro SD,Hansen KL,Hine LK,Rainosek DE,Guerra FA

更新日期：1983-06-01 00:00:00

abstract：:Vitamin-B6-dependent epilepsies are a heterogenous group of treatable disorders due to mutations in several genes (ALDH7A1, PNPO, ALPL or ALDH4A1). In neonatal seizures, defects in ALDH7A1 and PNPO explain a major fraction of cases. Very recently biallelic mutations in PROSC were shown to be a novel cause in five fami...

journal_title：Journal of medical genetics

authors： Plecko B,Zweier M,Begemann A,Mathis D,Schmitt B,Striano P,Baethmann M,Vari MS,Beccaria F,Zara F,Crowther LM,Joset P,Sticht H,Papuc SM,Rauch A

更新日期：2017-12-01 00:00:00

abstract：:Molecular genetic investigation of a female infant with Beckwith-Wiedemann syndrome (BWS) showed loss of IGF2 imprinting but no evidence of uniparental disomy. In addition, a deletion of chromosome 18q22.1 was identified in this infant without clinical features of 18q-syndrome (microcephaly, short stature, hypotonia)....

journal_title：Journal of medical genetics

authors： Brewer CM,Lam WW,Hayward C,Grace E,Maher ER,FitzPatrick DR

更新日期：1998-02-01 00:00:00

abstract：:The chemical and physical properties of haemoglobin S derived from homozygotes for this haemoglobin in Sicily were examined, as well as some erythrocytic characteristics. Sicilian Hb S was identical to that found in USA black patients in electrophoretic mobility on both starch and citrate agar media, solubility, mecha...

journal_title：Journal of medical genetics

authors： Roth EF Jr,Schiliro G,Russo A,Musumeci S,Rachmilewitz E,Neske V,Nagel R

更新日期：1980-02-01 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：: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

abstract：:The risk of breast cancer for unaffected men who test positive for a BRCA2 mutation is based on very few retrospective studies. We have used both retrospective and prospective analysis in 321 families with pathogenic BRCA2 mutations. Three breast cancers occurred in male first-degree relatives after family ascertainme...

journal_title：Journal of medical genetics

authors： Evans DG,Susnerwala I,Dawson J,Woodward E,Maher ER,Lalloo F

更新日期：2010-10-01 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：:In the majority of patients, familial hypercholesterolaemia (FH) is caused by different mutations affecting the well defined low density lipoprotein receptor (LDLR) gene. However, 3% of patients in Munich with a clinical diagnosis of FH have a particular mutation in the apolipoprotein B gene causing familial defective...

journal_title：Journal of medical genetics

authors： Schuster H,Rauh G,Gerl C,Keller C,Wolfram G,Zöllner N

更新日期：1991-12-01 00:00:00

abstract：BACKGROUND:Infertility affects approximately 15% of couples worldwide with male infertility being responsible for approximately 50% of cases. Although accumulating evidence demonstrates the critical role of the X chromosome in spermatogenesis during the last few decades, the expression patterns and potential impact of ...

journal_title：Journal of medical genetics

authors： Lu C,Zhang Y,Qin Y,Xu Q,Zhou R,Cui Y,Zhu Y,Zhang X,Zhang J,Wei X,Wang M,Hang B,Mao JH,Snijders AM,Liu M,Hu Z,Shen H,Zhou Z,Guo X,Wu X,Wang X,Xia Y

更新日期：2021-01-01 00:00:00

abstract：:Despite increased expenditure, productivity of the pharmaceutical industry has decreased and currently 90% of developed molecules entering phase II and phase III clinical trials fail to gain regulatory approval. Most of these failures are due to lack of therapeutic efficacy rather than lack of safety, suggesting that ...

journal_title：Journal of medical genetics

authors： Mokry LE,Ahmad O,Forgetta V,Thanassoulis G,Richards JB

更新日期：2015-02-01 00:00:00

abstract：:We describe a new case of postaxial acrofacial dysostosis (Miller) syndrome. This syndrome consists of mandibulofacial dysostosis, similar to that seen in Treacher Collins syndrome, and postaxial limb deficiency. The mode of inheritance remains uncertain. ...

journal_title：Journal of medical genetics

authors： Vigneron J,Stricker M,Vert P,Rousselot JM,Levy M

更新日期：1991-09-01 00:00:00

abstract：:DNA from 20 Italian haemophilia B patients was analysed by the Southern blotting technique and hybridisation to a factor IX cDNA probe. A large deletion of factor IX gene was detected in one patient with antibodies to the infused factor; the EcoRI pattern of the other 19 subjects examined was normal. ...

journal_title：Journal of medical genetics

authors： Bernardi F,del Senno L,Barbieri R,Buzzoni D,Gambari R,Marchetti G,Conconi F,Panicucci F,Positano M,Pitruzzello S

更新日期：1985-08-01 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：:A common missense mutation in the methylenetetrahydrofolate reductase (MTHFR) gene, a C to T substitution at nucleotide 677, is responsible for reduced MTHFR activity and associated with modestly increased plasma homocysteine concentrations. Since underlying maternal vascular disease increases the risk of pre-eclampsi...

journal_title：Journal of medical genetics

authors： Sohda S,Arinami T,Hamada H,Yamada N,Hamaguchi H,Kubo T

更新日期：1997-06-01 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：BACKGROUND:Anticonvulsants taken in pregnancy are associated with an increased risk of malformations and developmental delay in the children. To evaluate the pattern of abnormalities associated with prenatal anticonvulsant exposure further, we undertook a clinical study of 57 children with fetal anticonvulsant syndrome...

journal_title：Journal of medical genetics

authors： Moore SJ,Turnpenny P,Quinn A,Glover S,Lloyd DJ,Montgomery T,Dean JC

更新日期：2000-07-01 00:00:00

abstract：:We describe a female infant with mental retardation and some of the phenotypic features of Williams-Beuren syndrome. Chromosome analysis showed t(X;21)(q28;q11). Diagnosis, inactivation of the X chromosome, and possible involvement of the translocation breakpoints in the pathogenesis of this syndrome are discussed. ...

journal_title：Journal of medical genetics

authors： Telvi L,Pinard JM,Ion R,Sinet PM,Nicole A,Feingold J,Dulac O,Pompidou A,Ponsot G

更新日期：1992-10-01 00:00:00

abstract：:We report on three Dutch children with a clinical diagnosis of oculoauriculovertebral spectrum (OAVS) and hydrocephalus. The clinical features are compared to 15 published cases of OAVS and hydrocephalus. Several other cerebral abnormalities were present in the whole group. About half of the cases had cleft lip/palate...

journal_title：Journal of medical genetics

authors： Schrander-Stumpel CT,de Die-Smulders CE,Hennekam RC,Fryns JP,Bouckaert PX,Brouwer OF,da Costa JJ,Lommen EJ,Maaswinkel-Mooy PD

更新日期：1992-05-01 00:00:00

abstract：:A cohort of 33 people at risk for Huntington's disease (HD), applying for genetic testing, were tested with a battery of neuropsychological tests covering attentional, visuospatial, learning, memory, and planning functions. A psychiatric rating scale, SCL-90R, was also applied, mainly as a control, since cognitive dys...

journal_title：Journal of medical genetics

authors： Rosenberg NK,Sørensen SA,Christensen AL

更新日期：1995-08-01 00:00:00

abstract：:Prolidase deficiency (PD) is a rare autosomal recessive connective tissue disorder caused by mutations in the prolidase gene. The PD patients show a wide range of clinical outcomes characterised mainly by intractable skin ulcers, mental retardation and recurrent respiratory infections. Here we describe five different ...

journal_title：Journal of medical genetics

authors： Lupi A,Rossi A,Campari E,Pecora F,Lund AM,Elcioglu NH,Gultepe M,Di Rocco M,Cetta G,Forlino A

更新日期：2006-12-01 00:00:00

abstract：BACKGROUND:Isolated cytochrome c oxidase (COX) deficiency is usually associated with mutations in several factors involved in the biogenesis of COX. METHODS:We describe a patient with atypical, long surviving Leigh syndrome carrying two novel mutations in the COX15 gene, which encodes an enzyme involved in the biosynt...

journal_title：Journal of medical genetics

authors： Bugiani M,Tiranti V,Farina L,Uziel G,Zeviani M

更新日期：2005-05-01 00:00:00

abstract：:PPARgamma, the gamma isoform of a family of peroxisome proliferator activated receptors, plays a key role in adipocyte differentiation. Recently, its broad expression in multiple tissues and several epithelial cancers has been shown. Further, somatic loss of function mutations in PPARgamma have been found in primary c...

journal_title：Journal of medical genetics

authors： Zhou XP,Smith WM,Gimm O,Mueller E,Gao X,Sarraf P,Prior TW,Plass C,von Deimling A,Black PM,Yates AJ,Eng C

更新日期：2000-06-01 00:00:00

abstract：:Hirschsprung disease, mental retardation, microcephaly, and specific craniofacial dysmorphism were observed in three children from a large, consanguineous, Moroccan family. A fourth child showed similar clinical features, with the exception of Hirschsprung disease. The association of these abnormalities in these child...

journal_title：Journal of medical genetics

authors： Brooks AS,Breuning MH,Osinga J,vd Smagt JJ,Catsman CE,Buys CH,Meijers C,Hofstra RM

更新日期：1999-06-01 00:00:00

abstract：BACKGROUND:Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's disease, is an X-linked motor neuron disorder caused by an expanded CAG repeat in the gene coding for the androgen receptor (AR). The range and significance of reduced penetrance alleles in SBMA has not been fully determined to date. We prese...

journal_title：Journal of medical genetics

authors： Laskaratos A,Breza M,Karadima G,Koutsis G

更新日期：2020-06-22 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