Detection of inborn errors of metabolism. IV. Galactokinase deficiency.

abstract：:Based on current consensus guidelines and standard practice, many genetic variants detected in clinical testing are classified as disease causing based on their predicted impact on the normal expression or function of the gene in the absence of additional data. However, our laboratory has identified a subset of such v...

journal_title：Clinical genetics

authors： Rosenthal ET,Bowles KR,Pruss D,van Kan A,Vail PJ,McElroy H,Wenstrup RJ

更新日期：2015-12-01 00:00:00

abstract：:We report studies on two patients (a mother and her daughter) presenting with a Charcot-Marie-Tooth type 1 (CMT1) phenotype: low nerve conduction velocities of 13-15 m/s and an early onset at the age of walking. DNA analysis of the gene coding for the major peripheral myelin protein PO showed a new point mutation in e...

journal_title：Clinical genetics

authors： Blanquet-Grossard F,Pham-Dinh D,Dautigny A,Latour P,Bonnebouche C,Corbillon E,Chazot G,Vandenberghe A

更新日期：1995-12-01 00:00:00

abstract：:Robinow Syndrome (RS), a rare skeletal dysplasia syndrome, is characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies. Both autosomal dominant and autosomal recessive patterns of inheritance have been reported. ...

journal_title：Clinical genetics

authors： Roifman M,Marcelis CL,Paton T,Marshall C,Silver R,Lohr JL,Yntema HG,Venselaar H,Kayserili H,van Bon B,Seaward G,FORGE Canada Consortium.,Brunner HG,Chitayat D

更新日期：2015-01-01 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：:Previous research and clinical experience suggest that Huntington's disease (HD) can considerably affect family life, particularly for young people (YP) at risk. The goal of this study was to describe the experiences of YP from families affected by HD. YP were identified through the regional genetics clinic and the Sc...

journal_title：Clinical genetics

authors： Forrest Keenan K,Miedzybrodzka Z,van Teijlingen E,McKee L,Simpson SA

更新日期：2007-02-01 00:00:00

abstract：:With the use of more stringent diagnostic criteria, it has recently been shown that some large pedigrees of Alport's and non-Alport's hereditary nephritis fit sex-linked dominant inheritance (O'Neill et al. 1978). We have used similar diagnostic criteria and have studied a number of Michigan pedigrees in order to see ...

journal_title：Clinical genetics

authors： Evans SH,Erickson RP,Kelsch R,Peirce JC

更新日期：1980-04-01 00:00:00

abstract：:A 32-year-old mentally retarded woman was found to have a complex rearrangement of one chromosome 4. Her karyotype is interpreted as 46,XX,inv(4) (pter----p14::q12----p14::q12----qter) del (4) (pter----15.33::p15.2----qter). Clinically she does not show the features of the Wolf-Hirschhorn syndrome. Her phenotype and c...

journal_title：Clinical genetics

authors： Romain DR,Columbano-Green LM,Parfitt RG,Chapman CJ,Smythe RH,Gebbie OB

更新日期：1985-08-01 00:00:00

abstract：:Chromosomal microarray analysis (CMA) is standard of care, first-tier clinical testing for detection of genomic copy number variation among patients with developmental disabilities. Although diagnostic yield is higher than traditional cytogenetic testing, management impact has not been well studied. We surveyed geneti...

journal_title：Clinical genetics

authors： Riggs ER,Wain KE,Riethmaier D,Smith-Packard B,Faucett WA,Hoppman N,Thorland EC,Patel VC,Miller DT

更新日期：2014-02-01 00:00:00

abstract：:Gynecological cancers pose a significant threat to women's health worldwide, with cervical cancer, ovarian cancer, and endometrial cancer having high incidences. Current gynecological cancer treatment methods mainly include surgery, chemotherapy, radiotherapy, and chemoradiotherapy. The CRISPR-Cas9 gene editing techno...

journal_title：Clinical genetics

authors： Zhang W,Liu Y,Zhou X,Zhao R,Wang H

更新日期：2020-06-01 00:00:00

abstract：:To evaluate whether the CF carrier status has any lasting effect on anxiety and on self-concept at least 1 year after the disclosure of the test result, an in-depth interview and additional psychological tests were administered in a group of adults who participated in a previous study which suggested a slight stigmati...

journal_title：Clinical genetics

authors： Denayer L,Welkenhuysen M,Evers-Kiebooms G,Cassiman JJ,Van den Berghe H

更新日期：1996-05-01 00:00:00

abstract：:The success of biomedical research in the past few decades has led to dramatic improvements in human health and, as a result, increased life expectancy. An unexpected consequence, however, has been an increase in the number of age-related diseases and, in particular, neurodegenerative diseases. Despite their prevalenc...

journal_title：Clinical genetics

authors： Michno K,van de Hoef D,Wu H,Boulianne GL

更新日期：2005-06-01 00:00:00

abstract：:A cytogenetic survey of an unselected group of mentally retarded persons in a geographically limited area was made in order to establish the frequency of chromosome abnormalities within this group. In the area there were 2,157 patients, both institutionalized and living at home. A chromosome analysis was performed in ...

journal_title：Clinical genetics

authors： Rasmussen K,Nielsen J,Dahl G

更新日期：1982-11-01 00:00:00

abstract：:Cancer screening recommendations for patients with Lynch-like syndrome (LLS) are not well defined. We evaluated adherence to Lynch syndrome (LS) screening recommendations, cancer risk perceptions, and communication within the families among colorectal cancer (CRC) survivors with LLS. Thirty-four participants with LLS ...

journal_title：Clinical genetics

authors： Katz LH,Burton-Chase AM,Advani S,Fellman B,Polivka KM,Yuan Y,Lynch PM,Peterson SK

更新日期：2016-03-01 00:00:00

abstract：:Ezetimibe reduces plasma low-density lipoprotein (LDL) cholesterol by blocking sterol absorption in enterocytes. The NPC1L1 gene product was recently identified as the molecular target for ezetimibe, although functional details are incomplete. We used the non-response phenotype of plasma LDL cholesterol to ezetimibe t...

journal_title：Clinical genetics

authors： Wang J,Williams CM,Hegele RA

更新日期：2005-02-01 00:00:00

abstract：:Split-hand/split-foot malformation (SHFM) is a severe form of congenital limb deformity characterized by the absence of 1 or more digits and/or variable degree of median clefts of hands and feet. The present study describes an investigation of a consanguineous family of Pakistani origin segregating SHFM in an autosoma...

journal_title：Clinical genetics

authors： Umair M,Ullah A,Abbas S,Ahmad F,Basit S,Ahmad W

更新日期：2018-03-01 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：:Genetic studies as well as in situ hybridisation data have strongly demonstrated that the genes coding for apoprotein(a) and plasminogen are linked and localised to chromosome 6 at band 6q26-27. We describe in this report the presence of a recombination event in a region of approximately 50 kb of DNA separating the tw...

journal_title：Clinical genetics

authors： Magnaghi P,Agazzi A,Semino O,Ferrari M,Barbui T,D'Angelo A,Taramelli R

更新日期：1995-06-01 00:00:00

abstract：:Anthropometric and craniofacial profile patterns indicating the percent difference from the overall mean were developed on 34 physical parameters with 31 white, mentally retarded males (23 adults and 8 children) with the fra(X) syndrome matched for age with 31 white, mentally retarded males without a known cause of th...

journal_title：Clinical genetics

authors： Butler MG,Pratesi R,Watson MS,Breg WR,Singh DN

更新日期：1993-09-01 00:00:00

abstract：:Atypical or variant forms of well-known chondrodysplasias may pose diagnostic problems. We report on a girl with clinical features suggesting diastrophic dysplasia but with unusual radiographic features including severe platyspondyly, wide metaphyses, and fibular overgrowth, which are partially reminiscent of metatrop...

journal_title：Clinical genetics

authors： Mégarbané A,Haddad FA,Haddad-Zebouni S,Achram M,Eich G,Le Merrer M,Superti-Furga A

更新日期：1999-07-01 00:00:00

abstract：:In a series of eight patients with retinoblastoma, one was found to have a reciprocal translocation of chromosomes 1 and 13. The breakpoint on chromosome 13 is at band q12, which suggests that the retinoblastoma locus is less distal than previously thought. ...

journal_title：Clinical genetics

authors： Davison EV,Gibbons B,Aherne GE,Roberts DF

更新日期：1979-06-01 00:00:00

abstract：:In a Danish family highly susceptible to ischemic heart disease, hyperlipidemia did not simply cosegregate with a previously undescribed 10 bp deletion in the LDL receptor gene causing heterozygous familial hypercholesterolemia (FH). This mutation, designated as FH DK-4, deletes 10 nucleotides from exon 4 coding for t...

journal_title：Clinical genetics

authors： Jensen HK,Hansen PS,Jensen LG,Kristensen MJ,Klausen IC,Kjeldsen M,Lemming L,Bolund L,Gregersen N,Faergeman O

更新日期：1995-07-01 00:00:00

abstract：:Halperin et al. (Halperin JM. Newcorn JH, Koda VH, Pick L, McKay KE, Knott P. Noradrenergic mechanisms in ADHD children with and without reading disabilities: a replication and extension. J Am Acad Child Adolesc Psychiatry 1997: 36: 1688 1696) reported a significant increase in plasma norepinephrine (NE) in attention-...

journal_title：Clinical genetics

authors： Comings DE,Gade-Andavolu R,Gonzalez N,Blake H,Wu S,MacMurray JP

更新日期：1999-03-01 00:00:00

abstract：:Forty-two children out of 20 sibships with autosomal recessive polycystic kidney disease were observed pro- and retrospectively over a mean period of 3.7 years in a long-term study on cystic kidney diseases in children. The intra- and interfamilial variability in terms of age at diagnosis, administration of antihypert...

journal_title：Clinical genetics

authors： Deget F,Rudnik-Schöneborn S,Zerres K

更新日期：1995-05-01 00:00:00

abstract：:Methods are presented to estimate relative fitness of carriers as a function of fertility, survival, are generation time in pedigrees under incomplete ascertainment. A large sample of diverse chromosomal aberrations reveals significant effects on all three parameters, giving a relative fitness of .769 +/- .039. There ...

journal_title：Clinical genetics

authors： Morton NE,Jacobs PA,Frackiewicz A,Law P,Hilditch CJ

更新日期：1975-09-01 00:00:00

abstract：:Crisponi/cold-induced sweating syndrome (CS/CISS) is a rare autosomal recessive disorder characterized by a complex phenotype (hyperthermia and feeding difficulties in the neonatal period, followed by scoliosis and paradoxical sweating induced by cold since early childhood) and a high neonatal lethality. CS/CISS is a ...

journal_title：Clinical genetics

authors： Angius A,Uva P,Oppo M,Buers I,Persico I,Onano S,Cuccuru G,Van Allen MI,Hulait G,Aubertin G,Muntoni F,Fry AE,Annerén G,Stattin EL,Palomares-Bralo M,Santos-Simarro F,Cucca F,Crisponi G,Rutsch F,Crisponi L

更新日期：2019-05-01 00:00:00

abstract：:The increasing frequency with which the diagnosis of the 47,XXY karyotype is made requires more knowledge of the prognosis of this condition. We present four 47,XXY boys identified at birth and followed since then (Group I), and four 47,XXY boys diagnosed because of physical and/or emotional problems (Group II). Physi...

journal_title：Clinical genetics

authors： Salbenblatt JA,Bender BG,Puck MH,Robinson A,Webber ML

更新日期：1981-08-01 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：: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：:Autosomal recessive malignant infantile osteopetrosis is a congenital disease characterized by pathologically increased bone density. Recently, the use of whole exome sequencing has been utilized as a clinical diagnostic tool in a number of Mendelian disorders. In this study, whole exome sequencing (WES) was successfu...

journal_title：Clinical genetics

authors： Shamriz O,Shaag A,Yaacov B,NaserEddin A,Weintraub M,Elpeleg O,Stepensky P

更新日期：2017-07-01 00:00:00

abstract：:We present a case of lethal fetal akinesia deformation sequence (FADS) caused by a frameshift variant in trans with a 148 kbp deletion encompassing 3-36 exons of AGRN. Pathogenic variants in AGRN have been described in families with a form of congenital myasthenic syndrome (CMS), manifesting in the early childhood wit...

journal_title：Clinical genetics

authors： Geremek M,Dudarewicz L,Obersztyn E,Paczkowska M,Smyk M,Sobecka K,Nowakowska B

更新日期：2020-04-01 00:00:00