Clinical and molecular studies of a large family with desmin-associated restrictive cardiomyopathy.

abstract：:Germline mutations of the STK11 gene mapped to chromosome 19p13.3 are responsible for Peutz Jeghers syndrome (PJS), a dominant disorder associated with characteristic gastrointestinal hamartomatous polyps and a predisposition to various cancers. We conducted a detailed investigation of germline STK11 alterations by pr...

journal_title：Clinical genetics

authors： Jiang CY,Esufali S,Berk T,Gallinger S,Cohen Z,Tobi M,Redston M,Bapat B

更新日期：1999-08-01 00:00:00

abstract：:X-linked mental retardation (MR) associated with a fragile X chromosome was found in two Swedish families. The fragile X chromosome was demonstrated in 5/5 boys with mental retardation. Clinical data on four of these boys are presented. In one of the families, the mental retardation was associated with macro-orchidism...

journal_title：Clinical genetics

authors： Gustavson KH,Holmgren G,Blomquist HK,Mikkelsen M,Nordenson I,Poulsen H,Tommerup N

更新日期：1981-02-01 00:00:00

abstract：UNLABELLED:After a 4-year multidisciplinary study of albinism our findings will be presented here. Over a hundred albinos were examined, together with their heterozygote family members. Given this substantial patient and subject sample we were provided with the opportunity to: evaluate the results of standard diagnosti...

journal_title：Clinical genetics

authors： van Dorp DB

更新日期：1987-04-01 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：:46,XY gonadal dysgenesis was transmitted as an autosomal-dominant trait in a large family with multiple affected members. Expressivity of the trait was highly variable, ranging from pure to partial gonadal dysgenesis associated with normal female genitalia or sexual ambiguity, to mild hypospadias in otherwise normal m...

journal_title：Clinical genetics

authors： Jawaheer D,Juo SH,Le Caignec C,David A,Petit C,Gregersen P,Dowbak S,Damle A,McElreavey K,Ostrer H

更新日期：2003-06-01 00:00:00

abstract：:CHARGE syndrome is a multiple congenital anomaly syndrome that can be life-threatening in the neonatal period. Complex heart defects, bilateral choanal atresia, esophageal atresia, severe T-cell deficiency, and brain anomalies can cause neonatal death. As little is known about the causes of death in childhood and adol...

journal_title：Clinical genetics

authors： Bergman JE,Blake KD,Bakker MK,du Marchie Sarvaas GJ,Free RH,van Ravenswaaij-Arts CM

更新日期：2010-03-01 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：:Lipoprotein(a) [Lp(a)] is an important genetic trait associated with cardiovascular disease. While Lp(a) levels have been demonstrated to be approximately twice as high in black adults and children compared with whites, this relationship has not been assessed in the elderly. During the 1987 recall of the Charleston He...

journal_title：Clinical genetics

authors： Knapp RG,Schreiner PJ,Sutherland SE,Keil JE,Gilbert GE,Klein RL,Hames C,Tyroler HA

更新日期：1993-11-01 00:00:00

abstract：:Mutations in the myelin protein zero (MPZ) gene are one of the frequent causes of Charcot-Marie-Tooth (CMT) hereditary neuropathies. Because the mutation rate of MPZ gene is rather high and some mutations are reported as polymorphisms, the proper clinical, electrophysiological examination and the segregation of the ne...

journal_title：Clinical genetics

authors： Brozková D,Mazanec R,Haberlová J,Sakmaryová I,Seeman P

更新日期：2010-07-01 00:00:00

abstract：:Apolipoprotein B (apoB) signal peptide (sp) polymorphism was characterized by polymerase chain reaction in blood samples of 58 coronary artery disease (CAD) patients and 319 control individuals of Chinese Han ethnic origin in Taiwan. In the CAD group, 77% of the observed alleles were sp27 (sp with 27 amino acids), and...

journal_title：Clinical genetics

authors： Wu JH,Wen MS,Lo SK,Chern MS

更新日期：1994-05-01 00:00:00

abstract：:Reassessment of the cytogenetics of a patient previously karyotyped as del(16)(q22) demonstrates the presence of a balanced translocation, t(4;16)(q35;q22.1). This patient should not be included in any future comparison involving the clinical features of patients with deletions of the long arm of chromosome 16. ...

journal_title：Clinical genetics

authors： Callen DF,Baker EG,Lane SA

更新日期：1990-12-01 00:00:00

abstract：:We have observed a 49 bp tandem duplication adjacent to the triplet repeat of the FMR1 gene and have shown it to occur as a variant in Finland. It affects the primers commonly used in molecular analysis of fragile X syndrome by polymerase chain reaction (PCR) methods. One concern is that females with the full mutation...

journal_title：Clinical genetics

authors： Mononen T,von Koskull H,Airaksinen RL,Juvonen V

更新日期：2007-12-01 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：:Second trimester amniotic fluid samples obtained transabdominally for genetic analysis not infrequently are contaminated with blood. There has been disagreement as to whether blood contamination interferes with the efficiency of culture of amniotic fluid cells for genetic diagnosis. A procedure using ammonium chloride...

journal_title：Clinical genetics

authors： Felix JS,Doherty RA

更新日期：1979-03-01 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：: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：: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：:We have recently characterized the transcriptome of the omental adipose tissue of non-diabetic, obese men with and without the metabolic syndrome (MS). The cysteine-rich protein 61 (CYR61) is one of the most differentially expressed genes between the groups and has been selected for a detailed molecular investigation....

journal_title：Clinical genetics

authors： Bouchard L,Tchernof A,Deshaies Y,Lebel S,Hould FS,Marceau P,Vohl MC

更新日期：2007-09-01 00:00:00

abstract：:The concurrence of a short arm isochromosome and a translocation of the entire long arm of the same chromosome to a telomere of another chromosome, implying trisomy for 4p, 5p, 7p, 9p, 10p or 12p, has been described in 13 patients. We have now used fluorescence in situ hybrization (FISH) to better characterize one of ...

journal_title：Clinical genetics

authors： Rivera H,Vásquez AI,Perea FJ

更新日期：1999-02-01 00:00:00

abstract：:During three years, 39,924 infants born consecutively in the area covered by our registry of congenital malformations were surveyed; 775 had major congenital malformations. Recurrence risks for the major malformation was estimated and classified as high (greater than 10%, 5.3% of the cases), low (1 to 10%, 85.3% of th...

journal_title：Clinical genetics

authors： Stoll C,Roth MP,Dott B,Bigel P

更新日期：1986-03-01 00:00:00

abstract：:A 27-year-old male with hypomelanosis of Ito (HI) is reported. One of his two children had a postaxial ray defect of one leg but neither had cutaneous features of HI. Somatic mosaicism for a gene defect lethal to ectodermal derivatives offers the best explanation for HI in males, with consequent negligible recurrence ...

journal_title：Clinical genetics

authors： Moss C,Burn J

更新日期：1988-08-01 00:00:00

abstract：:A group of 63 families from the Pomerania-Kujawy region were analyzed for three BRCA1 gene Polish founder mutations, 5382insC, 300T>G, and 4153delA, because of breast (BrCa) and/or ovarian cancer (OvCa) history. The analysis was carried out by multiplex polymerase chain reaction method. BRCA1 mutation was revealed in ...

journal_title：Clinical genetics

authors： Janiszewska H,Haus O,Lauda-Swieciak A,Pasińska M,Laskowski R,Szymański W,Górski B,Lubiński J

更新日期：2003-12-01 00:00:00

abstract：:Molecular testing of patients with autosomal dominant hypercholesterolemia (ADH) fails to detect a causal functional mutation in 15.25% of subjects. We studied an ADH pedigree in which known ADH-causing genes (LDLR, APOB and PCSK9) were excluded. Genome-wide analysis on 15 family members detected significant associati...

journal_title：Clinical genetics

authors： Cenarro A,García-Otín AL,Tejedor MT,Solanas M,Jarauta E,Junquera C,Ros E,Mozas P,Puzo J,Pocoví M,Civeira F

更新日期：2011-05-01 00:00:00

abstract：:Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by retinitis pigmentosa, obesity, polydactyly, cognitive impairment and renal failure. Pathogenic variants in 24 genes account for the molecular basis of >80% of cases. Toward saturated discovery of the mutational basis of the disorder, we carefully explored ou...

journal_title：Clinical genetics

authors： Delvallée C,Nicaise S,Antin M,Leuvrey AS,Nourisson E,Leitch CC,Kellaris G,Stoetzel C,Geoffroy V,Scheidecker S,Keren B,Depienne C,Klar J,Dahl N,Deleuze JF,Génin E,Redon R,Demurger F,Devriendt K,Mathieu-Dramard M,Po

更新日期：2021-02-01 00:00:00

abstract：:Autosomal dominant polycystic kidney disease (ADPKD) is a heterogeneous genetic disorder caused by loss of function mutations of PKD1 or PKD2 genes. Although PKD1 is highly polymorphic and the new mutation rate is relatively high, the role of mosaicism is incompletely defined. Herein, we describe the molecular analysi...

journal_title：Clinical genetics

authors： Tan AY,Blumenfeld J,Michaeel A,Donahue S,Bobb W,Parker T,Levine D,Rennert H

更新日期：2015-04-01 00:00:00

abstract：:While there is widespread agreement on the broad aspects of what constitutes a biobank, there is much disagreement regarding the precise definition. This research aimed to describe and analyze the definitions of the term biobank offered by various stakeholders in biobanking. Interviews were conducted with 36 biobankin...

journal_title：Clinical genetics

authors： Shaw DM,Elger BS,Colledge F

更新日期：2014-03-01 00:00:00

abstract：:Phytohaemagglutinin induces interferon-gamma synthesis in lymphocyte cultures from healthy individuals. We report two sibs with recurrent infections, selective IgA deficiency, and reduced blast transformation index under PHA-stimulation, without interferon-gamma response. ...

journal_title：Clinical genetics

authors： Tzoneva M,Ganev V,Galabov A,Georgieva K

更新日期：1988-06-01 00:00:00

abstract：:Mutations in IRF6 cause Van der Woude syndrome (VWS), one of the most common syndromes associated with cleft lip (CL) with or without cleft palate (CP). The presence of pits on the lower lip of patients is the most characteristic feature of the syndrome. We have identified three novel and seven previously reported IRF...

journal_title：Clinical genetics

authors： Malik S,Kakar N,Hasnain S,Ahmad J,Wilcox ER,Naz S

更新日期：2010-09-01 00:00:00

abstract：:Hereditary spastic paraplegia (HSP) is rarely inherited in an X-linked recessive mode in pure and complicated forms. Recently, molecular linkage studies have suggested that these variant X-linked HSP conditions result from locus heterogeneity. In this paper we report on the clinical and linkage analysis of a kindred w...

journal_title：Clinical genetics

authors： Goldblatt J,Ballo R,Sachs B,Moosa A

更新日期：1989-02-01 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