Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype.

abstract：:Mitochondrial disorders (MDs) are caused by defects in 1 or multiple complexes of the oxidative phosphorylation (OXPHOS) machinery. MDs are associated with a broad range of clinical signs and symptoms, and have considerable clinical overlap with other neuromuscular syndromes. This overlap might be due to involvement o...

journal_title：Clinical genetics

authors： Panneman DM,Smeitink JA,Rodenburg RJ

更新日期：2018-05-01 00:00:00

abstract：:A sample of psychotic and prepsychotic twins is presented, based on 9000 patients born during 1930--1946 and admitted to psychiatric departments in Scania, Sweden, during the 1960's. All twins of the same sex (76 pairs) were registered and their records examined. Twenty-three complete pairs, where one or both twins sh...

journal_title：Clinical genetics

authors： Eberhard G

更新日期：1981-05-01 00:00:00

abstract：:Recently, bi-allelic mutations in cytosolic isoleucyl-tRNA synthetase (IARS) have been described in three individuals with growth delay, hepatic dysfunction, and neurodevelopmental disabilities. Here we report an additional subject with this condition identified by whole-exome sequencing. Our findings support the asso...

journal_title：Clinical genetics

authors： Orenstein N,Weiss K,Oprescu SN,Shapira R,Kidron D,Vanagaite-Basel L,Antonellis A,Muenke M

更新日期：2017-06-01 00:00:00

abstract：:Rare heritable syndromes may affect educational attainment. Here, we study education in neurofibromatosis 1 (NF1) that is associated with multifaceted medical, social and cognitive consequences. Educational attainment in the Finnish population-based cohort of 1408 individuals with verified NF1 was compared with matche...

journal_title：Clinical genetics

authors： Johansson E,Kallionpää RA,Böckerman P,Peltonen J,Peltonen S

更新日期：2020-12-27 00:00:00

abstract：:Population-based genetic screening has been a mainstay of public health in the United States for many years. The goal of genetic screening is to identify individuals at increased risk for treatable diseases. The evolution of genetic testing to include multi-disease panels allows for new screening applications which ch...

journal_title：Clinical genetics

authors： Golden-Grant K,Merritt JL 2nd,Scott CR

更新日期：2015-12-01 00:00:00

abstract：:This article provides an overview of the current knowledge on medical complications, health characteristics, and psychosocial issues in adults with achondroplasia. We have used a scoping review methodology particularly recommended for mapping and summarizing existing research evidence, and to identify knowledge gaps. ...

journal_title：Clinical genetics

authors： Fredwall SO,Maanum G,Johansen H,Snekkevik H,Savarirayan R,Lidal IB

更新日期：2020-01-01 00:00:00

abstract：:The basic science and development of therapies targeting the blood vascular system has enjoyed much focus due to the knowledge of the molecular mechanisms behind its development and roles in disease. However, the closely associated lymphatic system, while also being responsible for a number of serious and debilitating...

journal_title：Clinical genetics

authors： Kim H,Dumont DJ

更新日期：2003-10-01 00:00:00

abstract：:The aim of this work was to determine the impact of parental consanguinity on congenital malformations in a mixed urban and rural Arab community in Jerusalem, Israel. Arab mothers admitted to four hospitals in west Jerusalem were interviewed after delivery. Demographic and obstetric data were recorded. Neonatal data w...

journal_title：Clinical genetics

authors： Bromiker R,Glam-Baruch M,Gofin R,Hammerman C,Amitai Y

更新日期：2004-07-01 00:00:00

abstract：:This report describes the clinical and investigative findings in a 31-year-old man with Hunter's syndrome, showing evidence of severe multisystem involvement. Papilloedema has been present for at least 8 years with no evidence of progressive visual impairment. His most serious and life-threatening complications are la...

journal_title：Clinical genetics

authors： Young ID,Harper PS

更新日期：1979-08-01 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：:Exome sequencing is being offered for children with undiagnosed conditions to identify a primary (causative) variant. Parental preferences for learning secondary (incidental) variants are largely unexplored. Our objective was to characterize values and beliefs that shape parents' preferences for learning their childre...

journal_title：Clinical genetics

authors： Sapp JC,Dong D,Stark C,Ivey LE,Hooker G,Biesecker LG,Biesecker BB

更新日期：2014-02-01 00:00:00

abstract：:The forkhead, Fox, gene family comprises a diverse group of 'winged-helix' transcription factors that play important roles in development, metabolism, cancer and aging. Recently, several forkhead genes have been demonstrated to play critical roles in lymphocyte development and effector functions. Alterations of the FO...

journal_title：Clinical genetics

authors： Amorosi S,D'Armiento M,Calcagno G,Russo I,Adriani M,Christiano AM,Weiner L,Brissette JL,Pignata C

更新日期：2008-04-01 00:00:00

abstract：:We investigated whether an association exists between genetic variants of the human obesity (OB or leptin) gene and body mass index (BMI) or weight in subjects with Prader Willi syndrome (PWS) and in age- and gender-matched lean and obese subjects without PWS. The study included 51 subjects with PWS (mean age = 17.7 +...

journal_title：Clinical genetics

authors： Butler MG,Hedges L,Hovis CL,Feurer ID

更新日期：1998-11-01 00:00:00

abstract：:A 4-year-old Saudi female child with extreme failure to thrive, striking dysmorphic features, developmental delay, congenital hypoparathyroidism, UTI, seizures, chronic otitis media, chronic non-specific gastroenteritis and repeated life-threatening infections was followed from birth. She was the product of first-cous...

journal_title：Clinical genetics

authors： Kalam MA,Hafeez W

更新日期：1992-09-01 00:00:00

abstract：:Specific mitochondrial enzymatic deficiencies in the catabolism of branched-chain amino acids cause methylmalonic aciduria (MMA), propionic acidemia (PA) and maple syrup urine disease (MSUD). Disease-causing mutations were identified in nine unrelated branched-chain organic acidurias (BCOA) patients. We detected eight...

journal_title：Clinical genetics

authors： Stojiljkovic M,Klaassen K,Djordjevic M,Sarajlija A,Brasil S,Kecman B,Grkovic S,Kostic J,Rodriguez-Pombo P,Desviat LR,Pavlovic S,Perez B

更新日期：2016-09-01 00:00:00

abstract：:A report is made on a rare isodicentric chromosome 18 in an abnormal male infant whose karyotype was 46,XY,idic(18)(p11.31----qter), confirmed by in situ hybridization using non-radioactive biotin-labelled 18 probe. His clinical features were similar to 18 trisomy syndrome. The literature concerning isochromosome 18 i...

journal_title：Clinical genetics

authors： Meguid NA,Habibian R

更新日期：1992-05-01 00:00:00

abstract：:We identified the homozygous p.Arg12* variant in 5 patients with neurodevelopmental delay, but variation databases list many truncating heterozygous variants for this small 2-exon gene. As most of these affect the protein's C-terminus, loss-of-function mediated pathogenicity may be confined to bi-allelic truncating va...

journal_title：Clinical genetics

authors： Yavuz H,Bertoli-Avella AM,Alfadhel M,Al-Sannaa N,Kandaswamy KK,Al-Tuwaijri W,Rolfs A,Brandau O,Bauer P

更新日期：2018-10-01 00:00:00

abstract：:Glucocerebrosidase activity in extracts of leukocytes, Epstein-Barr virus transformed lymphocytes and fibroblasts from Portuguese Type 1 Gaucher disease patients was studied. The residual glucocerebrosidase activity in all extracts from patients was less than 25% if measured in the presence of bile salt taurocholate. ...

journal_title：Clinical genetics

authors： Sa Miranda MC,Aerts JM,Pinto R,Fontes A,de Lacerda LW,van Weely S,Barranger J,Tager JM

更新日期：1990-09-01 00:00:00

abstract：:Allogeneic bone marrow transplantation was carried out in an 81-day-old Portuguese water dog with GM1 gangliosidosis using a DLA identical sibling as donor. Engraftment was complete and beta-galactosidase activity in leukocytes of the transplanted dog were similar to those in the donor. Over the next 2.5 months neurol...

journal_title：Clinical genetics

authors： O'Brien JS,Storb R,Raff RF,Harding J,Appelbaum F,Morimoto S,Kishimoto Y,Graham T,Ahern-Rindell A,O'Brien SL

更新日期：1990-10-01 00:00:00

abstract：:Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by a combination of neurological symptoms and hamartomatous growths, and caused by mutations in the TSC1 and TSC2 genes. Overall, TSC2 mutations are associated with a more severe disease phenotype. We identified the c.3598C>T (R1200W) cha...

journal_title：Clinical genetics

authors： Wentink M,Nellist M,Hoogeveen-Westerveld M,Zonnenberg B,van der Kolk D,van Essen T,Park SM,Woods G,Cohn-Hokke P,Brussel W,Smeets E,Brooks A,Halley D,van den Ouweland A,Maat-Kievit A

更新日期：2012-05-01 00:00:00

abstract：:Approximately one in three individuals will be affected by cancer in their lifetime in the United States, and some are at elevated risk because of family history. Although assessment of family history of cancer and cancer risk is the standard of care, the current health-care system appears unable to meet this need. Be...

journal_title：Clinical genetics

authors： Kelly KM,Sweet K

更新日期：2007-01-01 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

abstract：:A dysmorphic child was found by cytogenetic analysis to have an extra small marker chromosome. The marker chromosome was shown to possess a chromosome 18 centromere by in situ hybridization, and probably represents an isochromosome 18p. Centromere specific probes should be of value in identifying extra small marker ch...

journal_title：Clinical genetics

authors： Blennow E,Nielsen KB

更新日期：1991-06-01 00:00:00

abstract：:Twenty-five novel mutations including duplications in the ATP7A gene. Menkes disease (MD) and occipital horn syndrome (OHS) are allelic X-linked recessive copper deficiency disorders resulting from ATP7A gene mutations. MD is a severe condition leading to progressive neurological degeneration and death in early childh...

journal_title：Clinical genetics

authors： Moizard MP,Ronce N,Blesson S,Bieth E,Burglen L,Mignot C,Mortemousque I,Marmin N,Dessay B,Danesino C,Feillet F,Castelnau P,Toutain A,Moraine C,Raynaud M

更新日期：2011-03-01 00:00:00

abstract：:Cross syndrome is a rare syndrome characterized by ocular and cutaneous hypopigmentation and neurological manifestations. A few reports have been published since 1967. In this report, we present a new case of Cross syndrome with additional findings such as urinary tract abnormality, bilateral inguinal hernia, focal in...

journal_title：Clinical genetics

authors： Tezcan I,Demir E,Aşan E,Kale G,Müftüoğlu SF,Kotiloğlu E

更新日期：1997-02-01 00:00:00

abstract：:A de novo 14/21 Robertsonian translocation and a familially inherited Y/15 translocation were observed in a male infant with anomalies of the external genitalia. The Y/15 translocation was confirmed by cultivating lymphocytes in a medium containing distamycin A and by determining the occurrence of the Y-specific DNA s...

journal_title：Clinical genetics

authors： Schmid M,Schmidtke J,Kruse K,Tolksdorf M

更新日期：1983-10-01 00:00:00

abstract：:Ophthalmology has been an early adopter of personalized medicine. Drawing on genomic advances to improve molecular diagnosis, such as next-generation sequencing, and basic and translational research to develop novel therapies, application of genetic technologies in ophthalmology now heralds development of gene replace...

journal_title：Clinical genetics

authors： Porter LF,Black GC

更新日期：2014-07-01 00:00:00

abstract：:Tricho-dento-osseous (TDO) syndrome is an autosomal dominant trait characterized by curly kinky hair at birth, enamel hypoplasia, taurodontism, thickening of cortical bones and variable expression of craniofacial morphology. Genetic studies have identified a 4-bp deletion in the DLX3 gene that is associated with TDO; ...

journal_title：Clinical genetics

authors： Nguyen T,Phillips C,Frazier-Bower S,Wright T

更新日期：2013-04-01 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：BACKGROUND:Mutations in the DNAJB6 gene have been identified as a rare cause of dominantly inherited limb-girdle muscular dystrophy or distal-onset myopathy. MATERIALS AND METHODS:Exome sequencing was performed to investigate a Taiwanese family with a dominantly inherited distal-onset myopathy. Functional effects of t...

journal_title：Clinical genetics

authors： Tsai PC,Tsai YS,Soong BW,Huang YH,Wu HT,Chen YH,Lin KP,Liao YC,Lee YC

更新日期：2017-08-01 00:00:00