Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data.

abstract：:The advent of whole-exome next-generation sequencing (WES) has been pivotal for the molecular characterization of Mendelian disease; however, the clinical applicability of WES has remained relatively unexplored. We describe our exploration of WES as a diagnostic tool in a 3½-year old female patient with a 2-year histo...

journal_title：Clinical genetics

authors： Hanchard NA,Murdock DR,Magoulas PL,Bainbridge M,Muzny D,Wu Y,Wang M,Lupski JR,Gibbs RA,Brown CW

更新日期：2013-05-01 00:00:00

abstract：:A new type of mesomelic dwarfism in two male siblings and their father is presented. The responsible mutant gene manifests itself phenotypically as a severe dysostosis of the tibia with shortening, bowing and pseudarthrosis and as a mild dysostosis of the radius. The fibulae and ulnae are secondarily affected, but the...

journal_title：Clinical genetics

authors： Leroy JG,De Vos J,Timmermans J

更新日期：1975-04-01 00:00:00

abstract：:Primary immune deficiencies are usually attributed to genetic defects and, therefore, frequently referred to as inborn errors of immunity (IEI). We subjected the genomic DNA of 333 patients with clinical signs of IEI to next generation sequencing (NGS) analysis of 344 immunity-related genes and, in some instances, add...

journal_title：Clinical genetics

authors： Suspitsin EN,Guseva MN,Kostik MM,Sokolenko AP,Skripchenko NV,Levina AS,Goleva OV,Dubko MF,Tumakova AV,Makhova MA,Lyazina LV,Bizin IV,Sokolova NE,Gabrusskaya TV,Ditkovskaya LV,Kozlova OP,Vahliarskaya SS,Kondratenko IV,

更新日期：2020-09-01 00:00:00

abstract：:Among 120 meiotic analyses of infertile men there were three cases with a particular meiotic anomaly: low chiasma count at diakinesis and spermatogenic arrest. All clinical findings, hormonal analyses and karyotypes from peripheral blood were normal. Meiotic studies showed that pachytene pairing was complete, but in d...

journal_title：Clinical genetics

authors： Mićić M,Mićić S,Diklić V

更新日期：1982-11-01 00:00:00

abstract：:Genetic heterogeneity has made the identification of genes related to hearing impairment a challenge. In the absence of a clear phenotypic aetiology, recurrence risk estimates are often based on family segregation and may be imprecise. We profiled by oligonucleotide array-CGH patients presenting non-syndromic hearing ...

journal_title：Clinical genetics

authors： Rosenberg C,Freitas ÉL,Uehara DT,Auricchio MTBM,Costa SS,Oiticica J,Silva AG,Krepischi AC,Mingroni-Netto RC

更新日期：2016-04-01 00:00:00

abstract：:Mowat-Wilson syndrome (MWS) is an autosomal dominant developmental disorder with mental retardation and variable multiple congenital abnormalities due to mutations of the ZEB2 (ZFHX1B) gene at 2q22. MWS was first described in 1998 and the causative gene was delineated in 2001. Since then, 115 different mutations of ZE...

journal_title：Clinical genetics

authors： Engenheiro E,Møller RS,Pinto M,Soares G,Nikanorova M,Carreira IM,Ullmann R,Tommerup N,Tümer Z

更新日期：2008-06-01 00:00:00

abstract：:Short stature skeletal dysplasia (SD) patients have orthopedic and neurologic complications causing significant pain and physical disability. We conducted a large cross-sectional online survey in 361 people with short stature SD (>10 years) to describe pain prevalence, characteristics, and the relationship between pai...

journal_title：Clinical genetics

authors： Alade Y,Tunkel D,Schulze K,McGready J,Jallo G,Ain M,Yost T,Hoover-Fong J

更新日期：2013-09-01 00:00:00

abstract：:Twenty CF chromosomes from ten patients with mild adult form of cystic fibrosis were tested for delta F508. This mutation was found to be significantly less frequent than in the severe form of the disease. ...

journal_title：Clinical genetics

authors： Simon-Bouy B,Mornet E,Taillandier A,Serre JL,Boue J,Boue A

更新日期：1991-04-01 00:00:00

abstract：:It has been suggested that the form of X-linked mental retardation with macro-orchidism and the form associated with a marker X chromosome (fragile site at Xq27 or 28) are the same entity. Although our data support this hypothesis, one family from the literature does not. Data are presented suggesting that actual meas...

journal_title：Clinical genetics

authors： Howard-Peebles PN,Stoddard GR

更新日期：1980-02-01 00:00:00

abstract：:This brief account of Woody Guthrie is instructive to clinical geneticists. It tells the story of one famous man's understanding of, and struggle with, Huntington's disease. The philatelic illustration depicts Woody Guthrie playing his guitar in the years before advancement of the disease. ...

journal_title：Clinical genetics

authors： Innes AM,Chudley AE

更新日期：2002-04-01 00:00:00

abstract：BACKGROUND:For clinical genetic testing of cardiomyopathy (CMP), current guidelines do not address which gene panels to use: targeted panels specific to a CMP phenotype or expanded (panCMP) panels that include genes associated with multiple phenotypic subtypes. AIM:Our objective was to assess the clinical utility of t...

journal_title：Clinical genetics

authors： Ouellette AC,Mathew J,Manickaraj AK,Manase G,Zahavich L,Wilson J,George K,Benson L,Bowdin S,Mital S

更新日期：2018-01-01 00:00:00

abstract：:Female heterozygotes for the fragile X syndrome show variable levels of mental handicap from normal to severely retarded. The degree to which they are affected may depend upon whether the fragile or the normal X chromosome is preferentially inactivated, but one of the problems with the use of BUdR for the study of Lyo...

journal_title：Clinical genetics

authors： Tuckerman E,Webb T

更新日期：1989-07-01 00:00:00

abstract：:An abnormality of chromosome 16 in which there is extra genetic material present on the short arm (46,XY, 16p+) has been identified. This chromosomal aberration was associated with multiple congenital anomalies, including mid-facial hypoplasia, arthrogryposis, and mental retardation. On the basis of the cytogenetic ap...

journal_title：Clinical genetics

authors： Golden NL,Bilenker R,Johnson WE,Tischfield JA

更新日期：1981-01-01 00:00:00

abstract：:Approximately one in 500 individuals in Western population has autosomal dominant familial hypercholesterolemia due to mutations in the low-density lipoprotein receptor (LDLR) gene. Screening for these mutations is hampered by their large number, except in founder populations. We identified the breakpoint of the >15 k...

journal_title：Clinical genetics

authors： Simard LR,Viel J,Lambert M,Paradis G,Levy E,Delvin EE,Mitchell GA

更新日期：2004-03-01 00:00:00

abstract：:Detection of the cystic fibrosis (CF) heterozygote by testing for cystic fibrosis factor activity (CFFA) in serum samples using bioassays had been reported to give unreliable results. The present study was undertaken to find whether the use of medium from short term white blood cell or skin fibroblast cultures, rather...

journal_title：Clinical genetics

authors： Danes BS

更新日期：1975-02-01 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：:Glycogenosis type II (Pompe's disease) has been diagnosed using cultured amniotic cells for several years. In this paper, we present three prenatal diagnoses based on chorionic villi biopsy in three families at risk for Pompe's disease juvenile form: a normal fetus that was diagnosed and confirmed by enzymatic assay o...

journal_title：Clinical genetics

authors： Besançon AM,Castelnau L,Nicolesco H,Dumez Y,Poenaru L

更新日期：1985-05-01 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：: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 ability of statins to strongly reduce low-density lipoprotein cholesterol (LDL-C) varies interindividually and is partially influenced by genetic variants. Based on a comprehensive analysis of 23 single nucleotide polymorphisms (SNPs) known to be associated with pharmacokinetics and dynamics of statins, we develop...

journal_title：Clinical genetics

authors： Ciuculete DM,Bandstein M,Benedict C,Waeber G,Vollenweider P,Lind L,Schiöth HB,Mwinyi J

更新日期：2017-03-01 00:00:00

abstract：:NR4A2, a member of the nuclear receptor superfamily, is involved in modulation of target gene transcription, regulating several developmental processes such as regulation of cellular homeostasis, neuronal development, inflammation and carcinogenesis. 2q24.1 deletions are extremely rare, and only 1 patient with a de no...

journal_title：Clinical genetics

authors： Lévy J,Grotto S,Mignot C,Maruani A,Delahaye-Duriez A,Benzacken B,Keren B,Haye D,Xavier J,Heulin M,Charles E,Verloes A,Dupont C,Pipiras E,Tabet AC

更新日期：2018-08-01 00:00:00

abstract：:Genetic counseling and DNA testing (GCT) for breast cancer is increasingly being actively offered to newly diagnosed patients. Little is known about the consequences of such an approach. Therefore, the long-term psychosocial and medical impact of referring breast cancer patients for GCT during an early phase of treatm...

journal_title：Clinical genetics

authors： Baars JE,Bleiker EM,van Riel E,Rodenhuis CC,Velthuizen ME,Schlich KJ,Ausems MG

更新日期：2014-06-01 00:00:00

abstract：:Despite attention to psychological issues during genetic counselling and testing for hereditary breast and ovarian cancer risk, limited information is available on cancer-specific distress among African American women being targeted for participation in counselling and testing. Therefore, the purpose of this study is ...

journal_title：Clinical genetics

authors： Halbert Ch,Kessler L,Collier A,Paul Wileyto E,Brewster K,Weathers B

更新日期：2005-09-01 00:00:00

abstract：:A female infant with multiple dysmorphic features and developmental delay was found to have partial duplication of the long arm of chromosome 2 and partial deletion of the long arm of chromosome 11 derived from a paternal balanced translocation, 46,XY,t(2;11)(q33:q25). Clinically, the infant had features of both 2q+ a...

journal_title：Clinical genetics

authors： Ardinger HH,Patil SR,Rhead WJ

更新日期：1987-06-01 00:00:00

abstract：:A large variety of mutations within the genes encoding hepcidin (HAMP) and hemojuvelin (HJV) have been identified in patients with the severe iron overload disorder juvenile hemochromatosis (JH). The aim of the present study was to evaluate the molecular background of JH in patients from central parts of Europe. Seque...

journal_title：Clinical genetics

authors： Gehrke SG,Pietrangelo A,Kascák M,Braner A,Eisold M,Kulaksiz H,Herrmann T,Hebling U,Bents K,Gugler R,Stremmel W

更新日期：2005-05-01 00:00:00

abstract：:The symptomatic treatment of dopa-responsive dystonia (DRD) emphasizes the importance of molecular analyses of the GCH-1, TH and parkin genes. However, these analyses have not been extensively studied in Chinese DRD patients. Ten DRD families from the Han ethnic group including 14 patients and 28 clinically unaffected...

journal_title：Clinical genetics

authors： Wu ZY,Lin Y,Chen WJ,Zhao GX,Xie H,Murong SX,Wang N

更新日期：2008-12-01 00:00:00

abstract：:Several genes involved in the familial appearance of thoracic aortic aneurysms and dissections (FTAAD) have been characterized recently, one of which is SMAD3. Mutations of SMAD3 cause a new syndromic form of aortic aneurysms and dissections associated with skeletal abnormalities. We discovered a small interstitial de...

journal_title：Clinical genetics

authors： Hilhorst-Hofstee Y,Scholte AJ,Rijlaarsdam ME,van Haeringen A,Kroft LJ,Reijnierse M,Ruivenkamp CA,Versteegh MI,Pals G,Breuning MH

更新日期：2013-04-01 00:00:00

abstract：:Dermatoglyphic findings were compared in 38 Prader-Willi syndrome (PWS) patients and 270 normal controls. Twenty-one of the PWS patients had an interstitial deletion of the proximal long arm of chromosome 15 and seventeen PWS cases had normal chromosomes. Findings in PWS are not diagnostic but do show some consistent ...

journal_title：Clinical genetics

authors： Reed T,Butler MG

更新日期：1984-04-01 00:00:00

abstract：:The reliable evaluation of chromosomal mosaics is still considered to be difficult in clinical diagnosis if aberrant metaphases are only present at low frequencies. Classical cytogenetic findings cannot significantly exclude low mosaic levels, obviously, because of the relatively low number of analyzed metaphases. To ...

journal_title：Clinical genetics

authors： Schliephacke M,Maier CI,Majlinger G,Tomiuk J,Leipoldt M,Kaiser P

更新日期：1996-08-01 00:00:00

abstract：:We report the analysis of altogether 1050 suspected hereditary breast/ovarian cancer (HBOC) families, 524 fully screened for BRCA1/BRCA2 mutations and 526 tested only for the most common mutations. Of the 119 families with pathogenic mutations, 40 (33.6%) had the BRCA2 c.156_157insAlu rearrangement and 15 (12.6%) the ...

journal_title：Clinical genetics

authors： Peixoto A,Santos C,Pinto P,Pinheiro M,Rocha P,Pinto C,Bizarro S,Veiga I,Principe AS,Maia S,Castro F,Couto R,Gouveia A,Teixeira MR

更新日期：2015-07-01 00:00:00