Insertion/deletion (I/D) polymorphism at the locus for angiotensin I-converting enzyme and parental history of myocardial infarction.

abstract：:This qualitative study explored the impact of genetic risk information from BRCA1/2 testing on individuals' subjective understandings of self and self-identity. In-depth interviews were conducted with 39 participants (34 women and 5 men) who had received test results from BRCA1/2 testing. Themes emerging from qualitat...

journal_title：Clinical genetics

authors： d'Agincourt-Canning L

更新日期：2006-12-01 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 this report, a case with corpus callosum dysgenesis, infantile spasm, microcephaly, psychomotor retardation, exophthalmos, cleft lip-palate and abnormal EEG findings is presented. His parents are first-degree relatives. We could not fully match the findings of our patient with the criteria of any syndrome published...

journal_title：Clinical genetics

authors： Tütüncüoglu S,Ozkinay F,Genel F,Uran N,Ozgür T

更新日期：1996-04-01 00:00:00

abstract：:Pallister Killian syndrome (PKS) is the most frequent form of partial autosomal tetrasomy 12p in humans. Sufferers have a mosaic of isochromosome 12p [i(12p)]. We report the first pre-natal diagnosis on fetal blood cells after cordocentesis during the second trimester. The extra chromosome was first diagnosed by in si...

journal_title：Clinical genetics

authors： Chiesa J,Hoffet M,Rousseau O,Bourgeois JM,Sarda P,Mares P,Bureau JP

更新日期：1998-10-01 00:00:00

abstract：:Sanfilippo syndrome (mucopolysaccharidosis type III) is the commonest mucoploysaccharidosis. It causes neurodegeneration with often profound sleep and behavioral disturbance. Management of the sleep disturbance is difficult and inconsistent. In this study, we surveyed clinicians with particular expertise in the manage...

journal_title：Clinical genetics

authors： Fraser J,Wraith JE,Delatycki MB

更新日期：2002-11-01 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：:To assess some of the emotional aspects of why parents seek genetic counseling and to measure the effect of genetic counseling in parents of children with Down's syndrome, pre- and post-counseling measures of anxiety, hostility, depression, and self-concept were obtained from 43 parents. Pre-counseling responses were ...

journal_title：Clinical genetics

authors： Antley RM,Hartlage LC

更新日期：1976-03-01 00:00:00

abstract：:Isolated cleft palate (CP) is considered to be a heterogeneous trait with an important genetic contribution to the etiology. Multifactorial-threshold models of non-syndromic CP inheritance assume a female predominance. The present study of 52 Danish birth cohorts, using several ascertainment sources, identified 2301 C...

journal_title：Clinical genetics

authors： Christensen K,Fogh-Andersen P

更新日期：1994-11-01 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：:In situ hybridization was used to characterize an undetected chromosome translocation in a child whose metaphase chromosome analysis in peripheral blood and in skin culture revealed apparent monosomy 21. The cytogenetic study revealed 45 chromosomes, and no other structural anomalies were detected with G banding. In s...

journal_title：Clinical genetics

authors： López-Pajares I,Martin-Ancel A,Cabello P,Delicado A,Garcia-Alix A,San Roman C

更新日期：1993-02-01 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 cytoplasm of skin fibroblasts serially subcultured from the labium majus of normal human females binds 5alpha-dihydrotestosterone (5alpha-DHT) with high affinity and low capacity. Such binding was absent from the strains of two male pseudohermaphrodites with unambiguous female external genitalia: one of these was ...

journal_title：Clinical genetics

authors： Kaufman M,Straisfeld C,Pinsky L

更新日期：1976-06-01 00:00:00

abstract：:Mutations in PCDH19, which encodes protocadherin 19, have been identified in epilepsy, mainly in affected females. We summarized the clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population. We screened for PCDH19 mutations in 75 girls diagnosed with Dravet syndrome (DS) without a SC...

journal_title：Clinical genetics

authors： Liu A,Xu X,Yang X,Jiang Y,Yang Z,Liu X,Wu Y,Wu X,Wei L,Zhang Y

更新日期：2017-01-01 00:00:00

abstract：:A female with clinical features of familial articular hypermobility syndrome (FAHS) and her family were studied. The subject showed generalized hypermobility, except for a painful shoulder which presented functional limitation with a diagnosis of painful shoulder syndrome. Biochemical studies demonstrated that collage...

journal_title：Clinical genetics

authors： García-Cruz D,Cano-Colín S,Sánchez-Corona J,Gallegos MP,Chimal-Monroy J,Díaz-de-León L

更新日期：1998-02-01 00:00:00

abstract：:A family is described in which a mother and her two children carry a tandem duplication of the short arm of chromosome 8. Their phenotypes are similar and characterised by distinct facial dysmorphism, small stature and mild mental retardation. This is one of the first cases of direct familial transmission of a partial...

journal_title：Clinical genetics

authors： Dhooge C,Van Roy N,Craen M,Speleman F

更新日期：1994-01-01 00:00:00

abstract：:A 36-year-old man with schizoaffective disorder was found to have a de novo 46 XY inv (9) (q31.2q34.3). Phenotypical abnormalities are short stature, depressed nasal bridge, hypertelorism and slender shoulders. Paracentric inversion of chromosome 9 is a rare chromosome aberration. This case suggests a new candidate re...

journal_title：Clinical genetics

authors： Inayama Y,Yoneda H,Fukushima K,Sakai J,Asaba H,Sakai T

更新日期：1997-01-01 00:00:00

abstract：:Complex chromosomal rearrangements (CCRs) are rare findings in clinical cytogenetics. As a result of the high risk of unbalanced segregation, familial cases are even rarer and maternal transmission occurs more frequently than paternal transmission. Analogous to Drosophila and mice, as well as to CCRs involving the Y c...

journal_title：Clinical genetics

authors： Grossmann V,Höckner M,Karmous-Benailly H,Liang D,Puttinger R,Quadrelli R,Röthlisberger B,Huber A,Wu L,Spreiz A,Fauth C,Erdel M,Zschocke J,Utermann G,Kotzot D

更新日期：2010-12-01 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：:A family is reported in which Sanfilippo A syndrome affected three siblings: the proband and twin premature infants. The feasibility of intrauterine diagnosis of mucopolysaccharidoses (MPS) Type IIIA, was demonstrated by the excessive accumulation of 35SO4-mucopolysaccharides in fibroblasts cultured from amniotic flui...

journal_title：Clinical genetics

authors： Greenwood RS,Hillman RE,Alcala H,Sly WS

更新日期：1978-03-01 00:00:00

abstract：:This report compares the pathogenetic influences of selective deletion and triplicaton of chromosome 13 derived from a familial 12;13 insertional translocation. In the proband a heritable chromosomal basis for his bilateral retinoblastomas is established [46,XY,del (13) (pter leads to q12.5: :q22.1 leads to qter)mat],...

journal_title：Clinical genetics

authors： Riccardi VM,Hittner HM,Francke U,Pippin S,Holmquist GP,Kretzer FL,Ferrell R

更新日期：1979-04-01 00:00:00

abstract：:A number of studies have reported on possible relationships between a hypervariable sequence near the 5' end of the insulin gene and some common diseases. Control populations within these studies appear to disobey the Hardy-Weinberg equilibrium. In this study we have ascertained the allele frequencies in 181 random in...

journal_title：Clinical genetics

authors： Hubbard AL,Clayton JF

更新日期：1986-10-01 00:00:00

abstract：:From a large cohort of hyperlipidemic patients, who attended the Lipid Research Clinic in Amsterdam, The Netherlands and in Vancouver, Canada, 915 consecutive patients with familial hypercholesterolemia (FH) of Dutch descent, were selected. This group of FH patients was screened for the presence of a cytosine to thymi...

journal_title：Clinical genetics

authors： Defesche JC,van de Ree MA,Kastelein JJ,van Diermen DE,Janssens NW,van Doormaal JJ,Hayden MR

更新日期：1992-12-01 00:00:00

abstract：:Prenatal diagnosis in a pregnancy at risk for Becker muscular dystrophy is reported. The diagnosis was made prior to 12 weeks of gestation by typing a CVS sample for DNA markers. ...

journal_title：Clinical genetics

authors： Wood S,Shukin RJ,Yong SL,Wilson D,Kalousek D,Chudley A

更新日期：1987-01-01 00:00:00

abstract：:To determine the mutations of Southern Chinese with Duchenne and Becker muscular dystrophies (DMD, BMD), we analysed 28 DMD and BMD patients in 24 unrelated families for intragenic deletions and duplications by using cDNA probes covering the entire 14 kb of the dystrophin gene. Deletions were detected in nine unrelate...

journal_title：Clinical genetics

authors： Lau YL,Srivastava G,Wong V,Liu YT,Ho FC,Yeung CY

更新日期：1992-05-01 00:00:00

abstract：:Fabry disease is an X-linked disorder caused by a deficiency of the lysosomal alpha-galactosidase A [EC 3.2.1.22]. The molecular diagnosis of Fabry disease is important for genotype/phenotype correlation, pre-natal or early diagnosis, and detection of carrier status. Although more than 200 genotypes of the alpha-galac...

journal_title：Clinical genetics

authors： Yang CC,Lai LW,Whitehair O,Hwu WL,Chiang SC,Lien YH

更新日期：2003-03-01 00:00:00

abstract：:An isodicentric X-chromosome idic(X) (pter----q26.1::q26.1----pter) was found in lymphocytes and ovarian tissue of a 40-year-old female patient with secondary amenorrhea. No mosaicism was observed. The phenotype-karyotype correlation of our case and of previously described non-mosaic cases of idic(X) (q::q) with diffe...

journal_title：Clinical genetics

authors： Ponzio G,Chiodo F,Messina M,Surico N,Libanori E,Folpini E,Porcelli A,Marchese C

更新日期：1987-07-01 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：:In order to increase the efficiency of the Magiscan metaphase location and karyotyping system, its software and mode of operation have been changed. In the new multiple-cell karyotyping method, interactions by the operator are only required for relocation and counting of metaphases, but not for karyotyping. Metaphases...

journal_title：Clinical genetics

authors： Lundsteen C,Gerdes T,Maahr J

更新日期：1991-05-01 00:00:00

abstract：:Depression during pregnancy can have serious consequences for families. Indications of fetal aneuploidy can induce maternal stress, a risk factor for depression. Few studies have assessed symptoms of depression in pregnant women soon after they receive results indicating increased risk for fetal aneuploidy. We compare...

journal_title：Clinical genetics

authors： Hippman C,Oberlander TF,Honer WG,Misri S,Austin JC

更新日期：2009-01-01 00:00:00

abstract：:In order to evaluate the involvement of the peripheral autonomic nervous system in the pathogenesis of type 1 familial amyloid polyneuropathy, the urinary excretion rates of catecholamines and serum dopamine-beta-hydroxylase (DB/) activity were examined in 22 patients at various clinical stages. Changes in both indice...

journal_title：Clinical genetics

authors： Suzuki T,Tsuge I,Higa S,Hayashi A,Yamamura Y,Takaba Y,Nakajima A

更新日期：1979-08-01 00:00:00