Sotos syndrome in two brothers.

abstract：:Niemann-Pick diseases are hereditary neurovisceral lysosomal lipid storage disorders, of which the rare type C2 almost uniformly presents with respiratory distress in early infancy. In the patient presented here, the NPC2 exon 4 frameshift mutation c.408_409delAA caused reduced NPC2 protein levels in serum and lung la...

journal_title：Clinical genetics

authors： Griese M,Brasch F,Aldana VR,Cabrera MM,Goelnitz U,Ikonen E,Karam BJ,Liebisch G,Linder MD,Lohse P,Meyer W,Schmitz G,Pamir A,Ripper J,Rolfs A,Schams A,Lezana FJ

更新日期：2010-02-01 00:00:00

abstract：:Alzheimer's Disease (AD) is a devastating disease that affects millions of elderly persons. Despite years of intense investigations, genetic risk factors that affect the majority of AD cases have yet to be determined. Recent studies suggest that cholesterol metabolism has integral part in AD pathogenesis, suggesting t...

journal_title：Clinical genetics

authors： Wellington CL

更新日期：2004-07-01 00:00:00

abstract：:Malignant hyperthermia (MH)-related mutations have been identified in the ryanodine receptor type 1 gene (RYR1) and in the dihydropyridine gene (CACNA1S), but about half of the patients do not have causative mutations in these genes. We wanted to study the contribution of other muscle genes to the RYR1 phenotypes. We ...

journal_title：Clinical genetics

authors： Broman M,Kleinschnitz I,Bach JE,Rost S,Islander G,Müller CR

更新日期：2015-10-01 00:00:00

abstract：:During three years, 39,924 infants born consecutively in the area covered by our registry of congenital malformations were surveyed; 775 had major congenital malformations. Recurrence risks for the major malformation was estimated and classified as high (greater than 10%, 5.3% of the cases), low (1 to 10%, 85.3% of th...

journal_title：Clinical genetics

authors： Stoll C,Roth MP,Dott B,Bigel P

更新日期：1986-03-01 00:00:00

abstract：:The von Hippel Lindau (VHL) syndrome is an inherited multi-tumour disorder characterised by clinical heterogeneity and high penetrance. The VHL gene has been shown to be a tumour-suppressor gene. A carrier of a germline mutation will be predisposed to a high variety of benign and malign tumours affecting different org...

journal_title：Clinical genetics

authors： Brieger J,Weidt EJ,Gansen K,Decker HJ

更新日期：1999-09-01 00:00:00

abstract：:Rett syndrome (RTT) is an X-linked neurodevelopmental disorder caused by mutations in the MECP2 gene, with apparent lethality in male embryos. However, recent studies indicate that mutations in the MECP2 gene can cause congenital encephalopathy, an Angelman-like phenotype and even nonspecific mental retardation in mal...

journal_title：Clinical genetics

authors： Kleefstra T,Yntema HG,Oudakker AR,Romein T,Sistermans E,Nillessen W,van Bokhoven H,de Vries BB,Hamel BC

更新日期：2002-05-01 00:00:00

abstract：:It is generally presumed that the cystic fibrosis (CF) population is relatively homogeneous, and predominantly of European origin. The complex ethnic make-up observed in the CF patients collected by the North American CF Modifier Gene Consortium has brought this assumption into question, and suggested the potential fo...

journal_title：Clinical genetics

authors： Li W,Sun L,Corey M,Zou F,Lee S,Cojocaru AL,Taylor C,Blackman SM,Stephenson A,Sandford AJ,Dorfman R,Drumm ML,Cutting GR,Knowles MR,Durie P,Wright FA,Strug LJ

更新日期：2011-02-01 00:00:00

abstract：:Rhizomelic chondrodysplasia punctata (RCDP), a peroxisomal disorder, is considered to be a lethal neonatal autosomal recessive chondrodysplasia. We report five patients, three of whom survived beyond 1 year, and we summarize the findings in 21 patients from a literature review who survived beyond 1 year. In those pati...

journal_title：Clinical genetics

authors： Wardinsky TD,Pagon RA,Powell BR,McGillivray B,Stephan M,Zonana J,Moser A

更新日期：1990-08-01 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：:Most but not all epidemiologic studies have shown that lipoprotein(a) [Lp(a)] is a risk factor for cardiovascular disease (CVD). Lp(a) levels are also strongly genetically influenced. The purpose of this study was to evaluate the association between Lp(a) levels in adult offspring and parental CVD mortality in 61 kind...

journal_title：Clinical genetics

authors： Kim H,Marcovina SM,Edwards KL,McKnight B,Bradley CM,McNeely MJ,Psaty BM,Motulsky AG,Austin MA

更新日期：2001-09-01 00:00:00

abstract：:The disorders caused by mutations in genes encoding subunits and accessory proteins of cohesin complex are collectively termed as cohesinopathies. The best known cohesinopathy is Cornelia de Lange Syndrome (CdLS), which is a multisystem developmental disorder characterized by facial dysmorphism, limb malformations, gr...

journal_title：Clinical genetics

authors： Baquero-Montoya C,Gil-Rodríguez MC,Teresa-Rodrigo ME,Hernández-Marcos M,Bueno-Lozano G,Bueno-Martínez I,Remeseiro S,Fernández-Hernández R,Bassecourt-Serra M,Rodríguez de Alba M,Queralt E,Losada A,Puisac B,Ramos FJ,Pié J

更新日期：2014-05-01 00:00:00

abstract：:The activity of phytanic acid oxidase is low in infantile and adult Refsum's disease, and in the cerebro-hepato-renal (Zellweger's) syndrome. The plasma of patients with the infantile but not the adult form of Refsum's disease contains increased amounts of pipecolic acid and of at least two abnormal bile acids, one of...

journal_title：Clinical genetics

authors： Poulos A,Sharp P,Whiting M

更新日期：1984-12-01 00:00:00

abstract：:Five sibs with related parents are presented. All the sibs have short atrioventricular conduction time (P-R interval). The short P-R interval is probably an inherited feature in the family. ...

journal_title：Clinical genetics

authors： Möller P

更新日期：1976-08-01 00:00:00

abstract：:A 28-year-old Turner female with secondary amenorrhea is described, who showed 45,X/46,X,del(Xp) mosaicism in her blood lymphocytes and a 46,X,del(Xp) karyotype only in her ovaries. 45,X/46,XX mosaicism was found in the patient's mother, who presented short stature, mild Turner dysmorphism and had a normal reproductiv...

journal_title：Clinical genetics

authors： Verschraegen-Spae MR,Depypere H,Speleman F,Dhondt M,De Paepe A

更新日期：1992-04-01 00:00:00

abstract：:Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder caused by reduced activity of 7-dehydrocholesterol (7DHC) reductase, resulting in a decreased level of cholesterol and increased concentrations of 7DHC and 8DHC in body fluids and tissues. Ten pregnancies at 25% risk of SLOS underwent prenatal testin...

journal_title：Clinical genetics

authors： Jezela-Stanek A,Małunowicz EM,Ciara E,Popowska E,Goryluk-Kozakiewicz B,Spodar K,Czerwiecka M,Jezuita J,Nowaczyk MJ,Krajewska-Walasek M

更新日期：2006-01-01 00:00:00

abstract：:The canonical wingless (Wnt) and fibroblast growth factor (FGF) signaling pathways involving CTNNB1 and TBX4, respectively, are crucial for the regulation of human development. Perturbations of these pathways and disruptions from biological homeostasis have been associated with abnormal morphogenesis of multiple organ...

journal_title：Clinical genetics

authors： Karolak JA,Szafranski P,Kilner D,Patel C,Scurry B,Kinning E,Chandler K,Jhangiani SN,Coban Akdemir ZH,Lupski JR,Popek E,Stankiewicz P

更新日期：2019-10-01 00:00:00

abstract：:The Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS) and Genitopatellar syndrome (GTPTS) are 2 rare but clinically well-described diseases caused by de novo heterozygous sequence variants in the KAT6B gene. Both phenotypes are characterized by significant global developmental delay/intellectual dis...

journal_title：Clinical genetics

authors： Lonardo F,Lonardo MS,Acquaviva F,Della Monica M,Scarano F,Scarano G

更新日期：2019-02-01 00:00:00

abstract：:We report molecular and clinical analyses in 71 unrelated patients with cystic fibrosis (CF) from Andalusia (South of Spain). Direct mutation analysis of six mutations of the CFTR gene (delta F508, G542X, R1162X, N1303K, W1182X and 1949de184) was performed. The proportion of CF chromosomes with the above-mentioned mut...

journal_title：Clinical genetics

authors： Borrego S,Casals T,Dapena J,Fernández E,Giménez J,Cabeza JC,Sánchez J,Antiñolo G

更新日期：1994-10-01 00:00:00

abstract：:Complex microphthalmia is characterized by small eyes with additional abnormalities that may include anterior segment dysgenesis. While many genes are known, a genetic cause is identified in only 4-30% of microphthalmia, with the lowest rate in unilateral cases. We identified four novel pathogenic loss-of-function all...

journal_title：Clinical genetics

authors： Reis LM,Costakos D,Wheeler PG,Bardakjian T,Schneider A,Fung SSM,University of Washington Center for Mendelian Genomics.,Semina EV

更新日期：2020-12-13 00:00:00

abstract：:SOX18 mutations in humans are associated with both recessive and dominant hypotrichosis-lymphedema-telangiectasia syndrome (HLTS). We report two families with affected children carrying a SOX18 mutation: a living patient and his stillborn brother from Canada and a Belgian patient. The two living patients were diagnose...

journal_title：Clinical genetics

authors： Moalem S,Brouillard P,Kuypers D,Legius E,Harvey E,Taylor G,Francois M,Vikkula M,Chitayat D

更新日期：2015-04-01 00:00:00

abstract：:Two siblings born to consanguineous Bedouin parents and grandparents are reported with the phenotypic features of Ehlers-Danlos Syndrome (EDS), type VI. In addition, the affected individuals have a polyneuropathy as confirmed by nerve conduction velocity, electromyographic and muscle biopsy studies. We propose that th...

journal_title：Clinical genetics

authors： Farag TI,Schimke RN

更新日期：1989-02-01 00:00:00

abstract：:Two novel missense mutations, 1939G to A (R518Q) and 2017A to G (Q544R) were identified in Japanese patients with adrenoleukodystrophy (ALD). They are located in exon 6, which encodes part of the putative adenosine triphosphate binding domain of ALD protein. The ALD protein carrying the R518Q mutation was undetectable...

journal_title：Clinical genetics

authors： Imamura A,Suzuki Y,Song XQ,Fukao T,Uchiyama A,Shimozawa N,Kamijo K,Hashimoto T,Orii T,Kondo N

更新日期：1997-05-01 00:00:00

abstract：:This quantitative study determines the values, beliefs, and attitudes influencing the intention of men to undergo or defer genetic testing for prostate cancer risk using a model based on components of the Theory of Reasoned Action and Health Belief Model. Telephone interviews of a community sample of 400 men in a larg...

journal_title：Clinical genetics

authors： Doukas DJ,Localio AR,Li Y

更新日期：2004-11-01 00:00:00

abstract：:The locus DXS255 was studied using the probe M27 beta in ten probands with Rett syndrome and in eight of their families. No evidence of uniparental disomy of the X chromosome was detected, as all informative probands had inherited an allele from each of their parents. Differential methylation of a CCGG site within the...

journal_title：Clinical genetics

authors： Webb T,Watkiss E,Woods CG

更新日期：1993-11-01 00:00:00

abstract：:Kyphomelic dysplasia is a rare form of generalized skeletal dysplasia with about 15 cases described so far in the literature. We present the clinical, radiological, and pathological findings of an antenatally detected female fetus affected with this disorder. The differential diagnoses of prenatal and perinatal semile...

journal_title：Clinical genetics

authors： Prasad C,Cramer BC,Pushpanathan C,Crowley MC,Ives EJ

更新日期：2000-11-01 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：:Karyotype and DNA analyses using DNA probes were carried out in a family with the Cohen syndrome. Two affected brothers had normal chromosomal constitutions. A major deletion or duplication of genomic DNA fragments hybridized with the DNA probes, pML34 at D15S9 locus and pTD3-21 at D15S10 locus, assigned on 15q11-q12 ...

journal_title：Clinical genetics

authors： Kondo I,Hamabe J,Yamamoto K,Niikawa N

更新日期：1990-12-01 00:00:00

abstract：:A total of 206 patients with Marfan syndrome were ascertained throughout genetic clinics in Wales and Scotland during the period 1970-1990. There were 45 deaths representing 22% of the cohort. Mean age at death was 45.3+/-16.5 years. 50% median cumulative survival in the total cohort (n=206) was 53 years for males and...

journal_title：Clinical genetics

authors： Gray JR,Bridges AB,West RR,McLeish L,Stuart AG,Dean JC,Porteous ME,Boxer M,Davies SJ

更新日期：1998-08-01 00:00:00

abstract：:Aniridia is a severe, congenital ocular malformation inherited in an autosomal-dominant fashion with high penetrance and variable expression. Eye morphogenesis in humans involves a molecular genetic cascade in which a number of developmental genes interact in a highly organized process during the embryonic period to p...

journal_title：Clinical genetics

authors： Kokotas H,Petersen MB

更新日期：2010-05-01 00:00:00

abstract：:This paper reports on an investigation into the differences in image quality of different components used in a digital image processing system for chromosome analysis. As chromosome aberrations are important tools in the cloning of genes, it is important to know if the introduction of computerized analysis systems inc...

journal_title：Clinical genetics

authors： Nivall S,Holmquist D,Gustavsson T,Wahlström J

更新日期：1995-11-01 00:00:00