The use of whole exome sequencing for the diagnosis of autosomal recessive malignant infantile osteopetrosis.

abstract：:The contribution of fetal and maternal genes to the variation in birth weight was estimated in a sample of 5,625 grandchildren of monozygotic and dizygotic twins. Fetal and maternal genetic effects were separated by comparing the covariance structure for offspring of daughters of twins with that for offspring of sons ...

journal_title：Clinical genetics

authors： Magnus P

更新日期：1984-10-01 00:00:00

abstract：:Cystic fibrosis (CF) is considered as a rare disease in black Africans. In fact, this disease is likely to be underestimated since clinical features consistent with CF diagnosis are often ascribed to environmental factors such as malnutrition. Very little is known about CFTR mutations in affected patients from Central...

journal_title：Clinical genetics

authors： Feuillet-Fieux MN,Ferrec M,Gigarel N,Thuillier L,Sermet I,Steffann J,Lenoir G,Bonnefont JP

更新日期：2004-04-01 00:00:00

abstract：:Hereditary non-polyposis colorectal cancer (HNPCC), the most common type of hereditary colorectal cancer, is thought to be a simple Mendelian disease involving DNA mismatch repair genes. The majority of mutations associated with HNPCC occur in the hMSH2 and hMLH1 genes. The reported incidence of mismatch repair gene m...

journal_title：Clinical genetics

authors： Wei SC,Yu CY,Tsai-Wu JJ,Su YN,Sheu JC,Wu CH,Wang CY,Wong JM

更新日期：2003-09-01 00:00:00

abstract：:We describe a family with recurrent 11q23-qter deletion Jacobsen syndrome in two affected brothers, with unique mosaic deletion 'rescue' through development of uniparental disomy (UPD) in the mother and one of the brothers. Inheritance studies show that the deleted chromosome is of maternal origin in both boys, and mi...

journal_title：Clinical genetics

authors： Johnson JP,Haag M,Beischel L,McCann C,Phillips S,Tunby M,Hansen J,Schwanke C,Reynolds JF

更新日期：2014-04-01 00:00:00

abstract：:The ectodermal dysplasias (EDs) are a large and complex nosologic group of diseases; more than 170 different pathologic clinical conditions have been identified. Despite the great number of EDs described so far, few causative genes have been identified. We review EDs in the light of the most recent molecular findings ...

journal_title：Clinical genetics

authors： Priolo M,Silengo M,Lerone M,Ravazzolo R

更新日期：2000-12-01 00:00:00

abstract：:A 14-year-old boy is reported with bilateral hypoplastic patellae and multiple congenital skeletal anomalies. Since this constellation of bony malformations has not been described previously, we believe this represents a new syndrome most probably of genetic etiology. ...

journal_title：Clinical genetics

authors： Sandhaus YS,Ben-Ami T,Chechick A,Goodman RM

更新日期：1987-03-01 00:00:00

abstract：:More than 80% of the first degree relatives of 106 patients with iron overload - 97 with idiopathic haemochromatosis (I.H.) and nine with haemosiderosis secondary to alcohol induced liver disease (A.H. - were examined. Physical examination and measurement of plasma iron level and UIBC were done in all subjects; relati...

journal_title：Clinical genetics

authors： Simon M,Alexandre JL,Bourel M,Le Marec B,Scordia C

更新日期：1977-05-01 00:00:00

abstract：:In the present paper we report the first example of fertility in a female with isodicentric X-formation and karyotype 45,X/46,X,del(X)(pter----p21.3)/46,X,idic(X)(qter----p21.3::p21.3- ---qter). Her daughter was phenotypically almost normal and presented a 46,X,del(X)(pter----p21.3) karyotype in all examined cells. ...

journal_title：Clinical genetics

authors： Fryns JP,Kleczkowska A,Debucquoy P,van den Berghe H

更新日期：1988-11-01 00:00:00

abstract：:Clinical evaluation of a 13 1/2-year-old male revealed a 4.4-cm leg length discrepancy and a small penis with a normal endocrine evaluation. Cytogenetic analysis of peripheral blood lymphocytes and skin fibroblasts derived from the back showed 45,X/46,XY mosaicism with similar percentages of 45,X cells, 36% and 30% re...

journal_title：Clinical genetics

authors： Papenhausen PR,Mueller OT,Bercu B,Salazar J,Tedesco TA

更新日期：1991-09-01 00:00:00

abstract：:Neurofibromatosis 2 (NF2) is caused by mutations in the NF2 gene predisposing carriers to develop nervous system tumours. Different NF2 mutations result in either loss/reduced protein function or gain of protein function (abnormally behaving mutant allele i.e. truncated protein potentially causing dominant negative ef...

journal_title：Clinical genetics

authors： Selvanathan SK,Shenton A,Ferner R,Wallace AJ,Huson SM,Ramsden RT,Evans DG

更新日期：2010-02-01 00:00:00

abstract：:Thyroid function has been studied in 121 patients between 13 and 48 years old with proven Down syndrome. Chemically, hypothyroidism was found in 17% and hyperthyroidism in 2.5% of the patients; 18% of patients had goiter. Thyroid antibodies were detected in 33% of subjects studied. The abnormal findings were almost eq...

journal_title：Clinical genetics

authors： Sare Z,Ruvalcaba RH,Kelley VC

更新日期：1978-09-01 00:00:00

abstract：:Apolipoprotein E from human serum shows a genetic polymorphism determined by two autosomal codominant alleles, Apo En and Apo Ed. Homozygosity for the gene Apo Ed (phenotype Apo E-D) results in primary dysbetalipoproteinemia, but only some individuals with this phenotype develop gross hyperlipidemia (hyperlipoproteine...

journal_title：Clinical genetics

authors： Utermann G,Vogelberg KH,Steinmetz A,Schoenborn W,Pruin N,Jaeschke M,Hees M,Canzler H

更新日期：1979-01-01 00:00:00

abstract：:Sudden cardiac death (SCD) has an enormous impact on those who are left behind, evoking strong feelings of anxiety and incomprehension because such a dramatic event was not anticipated. Moreover, over the last decade a prominent genetic contribution to the pathogenesis of SCD has been unveiled. As many inherited cardi...

journal_title：Clinical genetics

authors： Saenen JB,Van Craenenbroeck EM,Proost D,Marchau F,Van Laer L,Vrints CJ,Loeys BL

更新日期：2015-08-01 00:00:00

abstract：:In 1984, we interviewed 105 Belgian families with a Cystic Fibrosis (CF) child in order to assess the impact of the birth of their CF-child on subsequent family planning and to evaluate their attitudes towards prenatal diagnosis. Three years later, in 1987, they received a mailed questionnaire for an updating of the r...

journal_title：Clinical genetics

authors： Evers-Kiebooms G,Denayer L,Van den Berghe H

更新日期：1990-03-01 00:00:00

abstract：:Congenital heart disease is the commonest malformation in humans and contributes greatly to the burden of disease in infancy. Increasingly, developmental origins are also implicated in heart disease in adults. Significant advances have been made over the past decade in elucidating morphogenetic events of heart formati...

journal_title：Clinical genetics

authors： Andelfinger G

更新日期：2008-06-01 00:00:00

abstract：:In the present study the kindred with Marner's cataract (CAM), which now comprises nine generations, was examined for linkage with 14 marker loci. We found strong evidence for linkage to haptoglobin, zmax = 8.33 at thetamax = 0.05 for males and thetamax = 0.04 for females. ...

journal_title：Clinical genetics

authors： Eiberg H,Marner E,Rosenberg T,Mohr J

更新日期：1988-10-01 00:00:00

abstract：:A study of the family of a patient who had an SLE-like syndrome and an extremely low serum C4 revealed an inheritance of C4 types and HLA region markers which indicated that the patient had 60--70% of "normal" C4 level prior to the onset of disease. Thus the extremely low C4 level during her disease may result from a ...

journal_title：Clinical genetics

authors： Cream JJ,Olaisen B,Teisberg P,Soler AV,Thompson RA

更新日期：1979-11-01 00:00:00

abstract：:A variety of studies has linked vasoactive intestinal peptide (VIP) to idiopathic pulmonary arterial hypertension (IPAH). In this study, we investigated the correlation between VIP gene variants and IPAH in Chinese population. A total of 81 consecutive unrelated patients diagnosed as IPAH from 2006 to 2008 and 250 con...

journal_title：Clinical genetics

authors： Zhang Y,Zhang JQ,Liu ZH,Xiong CM,Ni XH,Hui RT,He JG,Pu JL

更新日期：2009-06-01 00:00:00

abstract：:A female child is described with multiple anomalies including epicanthus, frontal bossing, short sternum, polydactyly, cleft of the larynx, renal cysts, and unusual dermatoglyphics. She died aged 3 months and was found to have a unique de novo deletion of chromosome No. 4 (q22-q25). This case is compared with other lo...

journal_title：Clinical genetics

authors： Butler LJ,Palmer AV,Spencer T,Tabios-Broadway R,Wall WJ

更新日期：1987-04-01 00:00:00

abstract：:The parental origin of an extra chromosome in Edwards syndrome has been investigated in 23 families by the combination of the VNTR probe pERT25, two microsatellite polymorphisms for D18S34 and D18S40, and several two-allele polymorphisms. Of the 23 cases, 22 were informative, with 17 (77%) being maternal and 5 (23%) p...

journal_title：Clinical genetics

authors： Ya-gang X,Robinson WP,Spiegel R,Binkert F,Ruefenacht U,Schinzel AA

更新日期：1993-08-01 00:00:00

abstract：:Mutations in the insulin receptor gene have been reported in cases of type A insulin resistance. We report herein two cases of type A insulin resistance, which involve some novel mutations. Case 1 is a heterozygote of the C253Y missense mutation and case 2 is a heterozygote of the Y864X nonsense mutation. In the C253Y...

journal_title：Clinical genetics

authors： Osawa H,Nishimiya T,Ochi M,Niiya T,Onuma H,Kitamuro F,Kaino Y,Kida K,Makino H

更新日期：2001-03-01 00:00:00

abstract：:Three overlapping conditions, namely Rothmund-Thomson (RTS), Baller-Gerold (BGS) and RAPADILINO syndromes, have been attributed to RECQL4 mutations. Differential diagnoses depend on the clinical presentation, but the numbers of known genes remain low, leading to the widespread prescription of RECQL4 sequencing. The ai...

journal_title：Clinical genetics

authors： Piard J,Aral B,Vabres P,Holder-Espinasse M,Mégarbané A,Gauthier S,Capra V,Pierquin G,Callier P,Baumann C,Pasquier L,Baujat G,Martorell L,Rodriguez A,Brady AF,Boralevi F,González-Enseñat MA,Rio M,Bodemer C,Philip N,

更新日期：2015-03-01 00:00:00

abstract：:Mutations in the myelin protein zero (MPZ) gene are one of the frequent causes of Charcot-Marie-Tooth (CMT) hereditary neuropathies. Because the mutation rate of MPZ gene is rather high and some mutations are reported as polymorphisms, the proper clinical, electrophysiological examination and the segregation of the ne...

journal_title：Clinical genetics

authors： Brozková D,Mazanec R,Haberlová J,Sakmaryová I,Seeman P

更新日期：2010-07-01 00:00:00

abstract：:We report on a consanguineous family with 6 children (out of 7) affected by a spondylo-ocular syndrome. Clinical features include cataract, loss of vision due to retinal detachment, facial dysmorphism, facial hypotonia, normal height with disproportional short trunk, immobile spine with thorakal kyphosis and reduced l...

journal_title：Clinical genetics

authors： Schmidt H,Rudolph G,Hergersberg M,Schneider K,Moradi S,Meitinger T

更新日期：2001-02-01 00:00:00

abstract：:Isolated cleft palate (CP) is considered to be a heterogeneous trait with an important genetic contribution to the etiology. Multifactorial-threshold models of non-syndromic CP inheritance assume a female predominance. The present study of 52 Danish birth cohorts, using several ascertainment sources, identified 2301 C...

journal_title：Clinical genetics

authors： Christensen K,Fogh-Andersen P

更新日期：1994-11-01 00:00:00

abstract：:An extra G-positive band within the 9qh regions is reported as a new chromosome 9 variant. This variant may have been more prevalent than has hitherto been perceived. Due to its small size, this extra band might not be readily recognizable in routine G-staining. ...

journal_title：Clinical genetics

authors： Hoo JJ

更新日期：1992-03-01 00:00:00

abstract：UNLABELLED:After a 4-year multidisciplinary study of albinism our findings will be presented here. Over a hundred albinos were examined, together with their heterozygote family members. Given this substantial patient and subject sample we were provided with the opportunity to: evaluate the results of standard diagnosti...

journal_title：Clinical genetics

authors： van Dorp DB

更新日期：1987-04-01 00:00:00

abstract：:Biochemical data are presented of a 29-year-old male, who shows progressive psychomotor retardation and a beta-galactosidase deficiency in leucocytes and cultured skin fibroblasts. Somatic cell hybridization studies show that this variant of GM1-gangliosidosis is based on a different gene mutation than is present in t...

journal_title：Clinical genetics

authors： Koster JF,Niermeijer MF,Loonen MC,Gajaard H

更新日期：1976-04-01 00:00:00

abstract：:Two patients with trisomy for 18p and the proximal segment of 18q (trisomy 18q-) are reported and compared with similar cases from the literature. The phenotype of trisomy 18q- resembles that of full trisomy 18 but differs mainly in the birdlike face, small mouth, more pronounced microretrognathia, minor skeletal dysp...

journal_title：Clinical genetics

authors： Turleau C,Chavin-Colin F,Narbouton R,Asensi D,de Grouchy J

更新日期：1980-07-01 00:00:00

abstract：:Hereditary non-polyposis colorectal cancer (HNPCC) may be the result of Lynch syndrome (LS) caused by mutations in mismatch repair (MMR) genes, a syndrome of unknown etiology called familial colorectal cancer type-X (FCCTX), or familial serrated neoplasia associated with the colorectal cancer (CRC) somatic BRAF mutati...

journal_title：Clinical genetics

authors： Warden G,Harnett D,Green J,Wish T,Woods MO,Green R,Dicks E,Rahman P,Zhai G,Parfrey P

更新日期：2013-12-01 00:00:00