Multiple sequence variations in SLC5A1 gene are associated with glucose-galactose malabsorption in a large cohort of Old Order Amish.

abstract：:Noonan syndrome (NS) is a congenital abnormality that affects multiple parts of the body. Approximately 50% of cases are caused by mutations in the PTPN11 gene. NS shares many clinical features with a group of developmental disorders including Costello syndrome and cardio-facio-cutaneous (CFC) syndrome. Recently, KRAS...

journal_title：Clinical genetics

authors： Lee ST,Ki CS,Lee HJ

更新日期：2007-08-01 00:00:00

abstract：:A slowly progressive type of muscular dystrophy affecting 11 known members of several Southern Manitoba Hutterite colonies is described. Though encompassing the facial characteristics of the facio-scapulo-humeral type and the proximal distribution of the limb-girdle type, it was felt that this disease represents a dis...

journal_title：Clinical genetics

authors： Shokeir MH,Kobrinsky NL

更新日期：1976-02-01 00:00:00

abstract：:Macular corneal dystrophy (MCD) is an autosomal recessive disease characterized by corneal opacities and caused by mutations in a carbohydrate sulfotransferase gene, known as CHST6. MCD type I patients show missense mutations in the CHST6-coding region, and MCD type II patients show a large deletion and replacement in...

journal_title：Clinical genetics

authors： Abbruzzese C,Kuhn U,Molina F,Rama P,De Luca M

更新日期：2004-02-01 00:00:00

abstract：:Silver-Russell syndrome (SRS) is a genetically heterogeneous disorder characterized by intrauterine and postnatal growth retardation, typical facial features and a spectrum of additional features including body and limb asymmetry and clinodactyly. Maternal uniparental disomy for chromosome 7 (upd(7)mat) was shown to o...

journal_title：Clinical genetics

authors： Behnecke A,Hinderhofer K,Jauch A,Janssen JW,Moog U

更新日期：2012-11-01 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：:It has been suggested that patients with autosomal recessive merosin deficient congenital muscular dystrophy (CMD), as opposed to the merosin positive cases form a homogeneous subgroup of a clinically more severe form of CMD. We examined merosin expression in muscle biopsies from five children with the severe classica...

journal_title：Clinical genetics

authors： Vajsar J,Chitayat D,Becker LE,Ho M,Ben-Zeev B,Jay V

更新日期：1998-09-01 00:00:00

abstract：:The 13 subtypes of oral-facial-digital syndrome (OFDS) belong to the heterogeneous group of ciliopathies. Disease-causing genes encode for centrosomal proteins, components of the transition zone or proteins implicated in ciliary signaling. A unique consanguineous family presenting with an unclassified OFDS with skelet...

journal_title：Clinical genetics

authors： Thevenon J,Duplomb L,Phadke S,Eguether T,Saunier A,Avila M,Carmignac V,Bruel AL,St-Onge J,Duffourd Y,Pazour GJ,Franco B,Attie-Bitach T,Masurel-Paulet A,Rivière JB,Cormier-Daire V,Philippe C,Faivre L,Thauvin-Robinet C

更新日期：2016-12-01 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：BACKGROUND:Array-comparative genomic hybridization (array-CGH) is a widely used technique to detect copy number variants (CNVs) associated with developmental delay/intellectual disability (DD/ID). AIMS:Identification of genomic disorders in DD/ID. MATERIALS AND METHODS:We performed a comprehensive array-CGH investiga...

journal_title：Clinical genetics

authors： Di Gregorio E,Riberi E,Belligni EF,Biamino E,Spielmann M,Ala U,Calcia A,Bagnasco I,Carli D,Gai G,Giordano M,Guala A,Keller R,Mandrile G,Arduino C,Maffè A,Naretto VG,Sirchia F,Sorasio L,Ungari S,Zonta A,Zacchetti

更新日期：2017-10-01 00:00:00

abstract：:Primary congenital glaucoma (PCG) has been associated with CYP1B1 gene (2p21), with a predominantly autosomal recessive mode of inheritance. Our earlier studies attributed CYP1B1 mutations to only 40% of Indian PCG cases. In this study, we included 72 such PCG cases where CYP1B1 mutations were detected in only 12 pati...

journal_title：Clinical genetics

authors： Kaur K,Reddy AB,Mukhopadhyay A,Mandal AK,Hasnain SE,Ray K,Thomas R,Balasubramanian D,Chakrabarti S

更新日期：2005-04-01 00:00:00

abstract：:Diastrophic dysplasia (DTD) is an autosomal recessive skeletal dysplasia caused by SLC26A2 mutations. Clinical features include short stature, joint contractures, spinal deformities, and cleft palate. SLC26A2 mutations also result in other skeletal dysplasias, including the milder recessive multiple epiphyseal dysplas...

journal_title：Clinical genetics

authors： Mäkitie O,Geiberger S,Horemuzova E,Hagenäs L,Moström E,Nordenskjöld M,Grigelioniene G,Nordgren A

更新日期：2015-03-01 00:00:00

abstract：:Endothelin is a peptide reported to be one of the most potent vasoconstrictors known. Presumably, endothelin could play a role in the physiological regulation of blood pressure in healthy or hypertensive people. We have studied a normal restriction fragment length polymorphism (RFLP) at the endothelin-I (EDN1) locus d...

journal_title：Clinical genetics

authors： Berge KE,Berg K

更新日期：1992-02-01 00:00:00

abstract：:Plasma from 158 presumed healthy nuclear families has been analyzed by high-resolution, two-dimensional electrophoresis to study the frequency and effects of the genetic polymorphism in human apolipoprotein A-IV. Two common alleles, apo A-IV 1 and apo A-IV 2 were detected with relative frequencies of 0.943 and 0.057, ...

journal_title：Clinical genetics

authors： Visvikis S,Steinmetz J,Boerwinkle E,Gueguen R,Galteau MM,Siest G

更新日期：1990-06-01 00:00:00

abstract：:In the rare developmental disorder Roberts' syndrome, prophase and metaphase chromosomes display premature sister-chromatid separation, most prominently at certain regions in which the chromatin is composed of highly reiterated base sequences. In addition, interphase nuclei present a striking distortion in their conto...

journal_title：Clinical genetics

authors： German J

更新日期：1979-12-01 00:00:00

abstract：:Women who carry fragile X mental retardation 1 (FMR1)gene premutation expansions frequently report neurological or endocrine symptoms and prior studies have predominantly focused on questionnaire report of medical issues. Premutation carrier (PMC) women (n = 33) and non-carrier controls (n = 13) were recruited and eva...

journal_title：Clinical genetics

authors： Hall D,Todorova-Koteva K,Pandya S,Bernard B,Ouyang B,Walsh M,Pounardjian T,Deburghraeve C,Zhou L,Losh M,Leehey M,Berry-Kravis E

更新日期：2016-01-01 00:00:00

abstract：:In whole-exome sequencing (WES), target capture methods are used to enrich the sequences of the coding regions of genes from fragmented total genomic DNA, followed by massively parallel, 'next-generation' sequencing of the captured fragments. Since its introduction in 2009, WES has been successfully used in several di...

journal_title：Clinical genetics

authors： Robinson PN,Krawitz P,Mundlos S

更新日期：2011-08-01 00:00:00

abstract：:There has been a paucity of research into the psychosocial impact of juvenile Huntington's disease (JHD) on the child and the family. The study reported here is part of larger project that aimed to address this and investigate the social and health care needs of those affected by JHD. Ten semistructured interviews wit...

journal_title：Clinical genetics

authors： Smith JA,Brewer HM,Eatough V,Stanley CA,Glendinning NW,Quarrell OW

更新日期：2006-06-01 00:00:00

abstract：:Adenosine diphosphate (ADP)-ribosylation factor-like 2 (ARL2) protein participates in a broad range of cellular processes and acts as a mediator for mutant ARL2BP in cilium-associated retinitis pigmentosa and for mutant HRG4 in mitochondria-related photoreceptor degeneration. However, mutant ARL2 has not been linked t...

journal_title：Clinical genetics

authors： Cai XB,Wu KC,Zhang X,Lv JN,Jin GH,Xiang L,Chen J,Huang XF,Pan D,Lu B,Lu F,Qu J,Jin ZB

更新日期：2019-07-01 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：:Only 47 of 61 (77%) medical students were selected as sperm donors for artificial insemination. Fourteen were excluded because of family history 1, eye disorders 7, oligospermia 5, permanent structural chromosome aberration 1. ...

journal_title：Clinical genetics

authors： Czeizel A,Szentesi I,Horváth L

更新日期：1983-08-01 00:00:00

abstract：:Few studies have investigated the frequency of hereditary non-polyposis colorectal cancer (HNPCC) in patients with colorectal cancer (CRC), and these have shown marked geographic variations. The aim of this study was to estimate the frequency of HNPCC in a cohort of Uruguayan CRC patients. We included all patients ope...

journal_title：Clinical genetics

authors： Sarroca C,Valle AD,Fresco R,Renkonen E,Peltömaki P,Lynch H

更新日期：2005-07-01 00:00:00

abstract：:Single nucleotide polymorphisms (SNPs) are genetic variations that contribute to human phenotypes associated with various diseases. SNPs are involved in the regulation of a broad range of physiological and pathological processes, such as cellular senescence, apoptosis, inflammation, and immune response, by upregulatin...

journal_title：Clinical genetics

authors： Liu X,Han Z,Yang C

更新日期：2017-09-01 00:00:00

abstract：:Marfan syndrome is a clinically and allelic heterogeneous, heritable connective tissue disorder with infrequently reported neuromuscular features. This study is the first to delineate these symptoms in a non-selected population. Neuromuscular involvement was evaluated in 10 Marfan patients through a standardized quest...

journal_title：Clinical genetics

authors： Voermans Nc,Timmermans J,van Alfen N,Pillen S,op den Akker J,Lammens M,Zwarts MJ,van Rooij IA,Hamel BC,van Engelen BG

更新日期：2009-07-01 00:00:00

abstract：:Three siblings of Indian stock had profound bilateral conductive deafness with variable malformations of the external ears, stapedial abnormalities and facial paralysis. Their mother was similarly affected and inheritance of this private syndrome is evidently autosomal dominant. Some improvement of auditory function w...

journal_title：Clinical genetics

authors： Sellars S,Beighton P

更新日期：1983-05-01 00:00:00

abstract：:A de novo supernumerary small marker chromosome 15 was observed in a female infant with mental and statomotoric retardation as well as minor facial dysmorphia. The marker chromosome was analyzed by ten different staining techniques and 5-azacytidine treatment of lymphocyte cultures. It is shown that the supernumerary ...

journal_title：Clinical genetics

authors： Schmid M,Schindler D,Haaf T

更新日期：1986-07-01 00:00:00

abstract：:Between 1994 and 1998, the 23 UK genetics departments, which form the UK Huntington's Disease Consortium, have undertaken 161 direct mutation adult predictive tests on individuals whose at-risk parent was alive or had died without showing signs of Huntington's disease (HD) (5.7% of total UK tests). This study describe...

journal_title：Clinical genetics

authors： Benjamin CM,Lashwood A

更新日期：2000-07-01 00:00:00

abstract：:We report a family in which a woman with the mosaic karyotype 45,X/46,X,del(X)(p21.2) transmitted the deleted X chromosome to two daughters. The nature of the deletion was confirmed by fluorescent in situ hybridization (FISH). All three family members showed somatic Ullrich-Turner syndrome features, but only one daugh...

journal_title：Clinical genetics

authors： Zinn AR,Ouyang B,Ross JL,Varma S,Bourgeois M,Tonk V

更新日期：1997-10-01 00:00:00

abstract：:Phenotypic variations in α-thalassemia mainly depend on the defective α-globin gene number. Genetic modifiers of the phenotype of Hemoglobin H (HbH) disease were poorly reported, apart from β-thalassemia allele that was identified ameliorating the severity of α-thalassemia. Because erythroid Krüppel-like factor (KLF1)...

journal_title：Clinical genetics

authors： Yu LH,Liu D,Cai R,Shang X,Zhang XH,Ma XX,Yan SH,Fang P,Zheng CG,Wei XF,Liu YH,Zhou TB,Xu XM

更新日期：2015-07-01 00:00:00

abstract：:The potential causes for the incomplete penetrance of Pelizaeus-Merzbacher disease (PMD) in female carriers of PLP1 mutations are not well understood. We present a family with a boy having PMD in association with PLP1 duplication and three females who are apparent manifesting carriers. Custom high-resolution oligonucl...

journal_title：Clinical genetics

authors： Carvalho CM,Bartnik M,Pehlivan D,Fang P,Shen J,Lupski JR

更新日期：2012-06-01 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