Epidemiology of Van der Woude syndrome from mutational analyses in affected patients from Pakistan.

abstract：:G-banded chromosome complements were analysed from both partners of 150 couples who had had two or more spontaneous abortions. Two women and four men were found to be balanced translocation carriers, as follows: 46,XX,t(2;10), 46,XX,t(6;11), 46,XY,t(6;10), 45,XY,t(13;14), 45,XY,t(13;14), 45,XY,t(14;21). Another woman ...

journal_title：Clinical genetics

authors： Lyberatou-Moraitou E,Grigori-Kostaraki P,Retzepopoulou Z,Kosmaidou-Aravidou Z

更新日期：1983-04-01 00:00:00

abstract：:Congenital aniridia is due to deletions and point mutations in the PAX6 gene. We describe here a case of a mother and her two sons with a syndrome comprising congenital aniridia, ptosis, and slight mental retardation. The sons also show behavioral changes. The possibility of deletion around the PAX6 locus was excluded...

journal_title：Clinical genetics

authors： Malandrini A,Mari F,Palmeri S,Gambelli S,Berti G,Bruttini M,Bardelli AM,Williamson K,van Heyningen V,Renieri A

更新日期：2001-08-01 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：: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：:Glucose-galactose malabsorption (GGM) is an autosomal recessive disease with life-threatening newborn diarrhea caused by mutations in the Na(+) /glucose cotransporter gene SLC5A1. Because of its rarity, the clinical course of the disease has not been well studied. Here, we report 33 patients with GGM from a large Old ...

journal_title：Clinical genetics

authors： Xin B,Wang H

更新日期：2011-01-01 00:00:00

abstract：:Primary cilia are microtubule-rich hair-like extensions protruding from the surface of most post-mitotic cells. They act as sensory organelles that help interpret various environmental cues. Mutations in genes encoding proteins involved in ciliogenesis or protein transport to the primary cilia lead to a wide variety o...

journal_title：Clinical genetics

authors： Ramamurthy V,Cayouette M

更新日期：2009-08-01 00:00:00

abstract：:An extremely rare pellagra-like condition has been described, which was partially responsive to niacin and associated with a multisystem involvement. The condition was proposed to represent a novel autosomal recessive entity but the underlying mutation remained unknown for almost three decades. The objective of this s...

journal_title：Clinical genetics

authors： Hijazi H,Salih MA,Hamad MH,Hassan HH,Salih SB,Mohamed KA,Mukhtar MM,Karrar ZA,Ansari S,Ibrahim N,Alkuraya FS

更新日期：2015-01-01 00:00:00

abstract：:Single cells were sorted from cultured fibroblasts of five carriers of Fabry's disease using a cell sorter (FACS II). The alpha-galactosidase A activity in the single fibroblasts was assayed in nanoliter droplets with the help of quantitative microfluorimetric techniques. Two populations of fibroblasts were present in...

journal_title：Clinical genetics

authors： Jongkind JF,Verkerk A,Niermeijer MF

更新日期：1983-04-01 00:00:00

abstract：:In the Arab population of Kuwait of approximately 1.3 million, 26 cases in 15 families were ascertained to have Bardet-Biedl syndrome (20 cases in 13 families) or Laurence-Moon syndrome (6 cases in 2 families). The apparently increased frequency of these interrelated autosomal recessive syndromes in Arabs is discussed...

journal_title：Clinical genetics

authors： Farag TI,Teebi AS

更新日期：1988-02-01 00:00:00

abstract：:Lymphoblastoid cell lines have been established from nine female patients with Duchenne muscular dystrophy who had previously been reported to have chromosome translocations with breakpoints in the Xp21 region. A detailed cytogenetic comparison of prometaphase chromosomes in these cell lines revealed that six of the t...

journal_title：Clinical genetics

authors： Boyd Y,Buckle VJ

更新日期：1986-02-01 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：:Mitochondrial disorders (MDs) are caused by defects in 1 or multiple complexes of the oxidative phosphorylation (OXPHOS) machinery. MDs are associated with a broad range of clinical signs and symptoms, and have considerable clinical overlap with other neuromuscular syndromes. This overlap might be due to involvement o...

journal_title：Clinical genetics

authors： Panneman DM,Smeitink JA,Rodenburg RJ

更新日期：2018-05-01 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：:A syndrome of spastic paresis, mental retardation and glaucoma has been described only once previously (Heijbel & Jagell 1981). We describe three brothers, products of a marriage between first cousins once-removed, who appear to have the same syndrome. The brothers are not dysmorphic but they have slowly progressive s...

journal_title：Clinical genetics

authors： Chenevix-Trench G,Leshner R,Mamunes P

更新日期：1986-11-01 00:00:00

abstract：:Rett syndrome (RTT) is an X-linked neurodevelopmental disorder caused by mutations in the MECP2 gene, with apparent lethality in male embryos. However, recent studies indicate that mutations in the MECP2 gene can cause congenital encephalopathy, an Angelman-like phenotype and even nonspecific mental retardation in mal...

journal_title：Clinical genetics

authors： Kleefstra T,Yntema HG,Oudakker AR,Romein T,Sistermans E,Nillessen W,van Bokhoven H,de Vries BB,Hamel BC

更新日期：2002-05-01 00:00:00

abstract：:The status of H-Y antigen was studied in 10 intersexual cases (three pure gonadal dysgenesis with XY genotype, three Klinefelter's syndrome, two true hermaphroditism with XX genotype, two male hermaphroditism) and in 18 normal adult subjects (nine males and nine females). In all these subjects, fluorescent staining an...

journal_title：Clinical genetics

authors： Ghosh SN,Shah PN,Gharpure HM,Athreya U

更新日期：1978-07-01 00:00:00

abstract：:Acetylation is one of the major routes in metabolism and detoxification of a large number of drugs, chemicals and carcinogens. Slow acetylators are said to be more susceptible to developing bladder cancer and because of investigations about tumor risk based on phenotyping procedures, it was our aim to study the distri...

journal_title：Clinical genetics

authors： Schnakenberg E,Ehlers C,Feyerabend W,Werdin R,Hübotter R,Dreikorn K,Schloot W

更新日期：1998-05-01 00:00:00

abstract：:Karyotype and DNA analyses using DNA probes were carried out in a family with the Cohen syndrome. Two affected brothers had normal chromosomal constitutions. A major deletion or duplication of genomic DNA fragments hybridized with the DNA probes, pML34 at D15S9 locus and pTD3-21 at D15S10 locus, assigned on 15q11-q12 ...

journal_title：Clinical genetics

authors： Kondo I,Hamabe J,Yamamoto K,Niikawa N

更新日期：1990-12-01 00:00:00

abstract：:GNE myopathy or hereditary inclusion body myopathy (HIBM) is an ultra-rare severely disabling autosomal recessive adult onset muscle disease which affects roughly one to three individuals per million worldwide. Genetically, HIBM is caused by mutations in the glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine k...

journal_title：Clinical genetics

authors： Khademian H,Mehravar E,Urtizberea J,Sagoo S,Sandoval L,Carbajo R,Darvish B,Valles-Ayoub Y,Darvish D

更新日期：2013-12-01 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：:Recently, bi-allelic mutations in cytosolic isoleucyl-tRNA synthetase (IARS) have been described in three individuals with growth delay, hepatic dysfunction, and neurodevelopmental disabilities. Here we report an additional subject with this condition identified by whole-exome sequencing. Our findings support the asso...

journal_title：Clinical genetics

authors： Orenstein N,Weiss K,Oprescu SN,Shapira R,Kidron D,Vanagaite-Basel L,Antonellis A,Muenke M

更新日期：2017-06-01 00:00:00

abstract：:A role for BRCA1 and BRCA2 in the control of genome integrity easily fits a tumor suppressor model. It is well established that mutations in DNA repair genes lead to genomic instability (138). Genomic instability may directly lead to tumorigenesis by allowing for the accumulation of mutations in key cell cycle regulat...

journal_title：Clinical genetics

authors： Welcsh PL,Schubert EL,King MC

更新日期：1998-12-01 00:00:00

abstract：:Two hundred and thirty-five survivors of myocardial infarction (MI) were compared to 384 controls with respect to distribution of genotypes and gene frequencies in the A1166C polymorphism at the angiotensin II type 1 receptor (AT1R) locus. No differences in allele frequencies or genotype distribution were observed whe...

journal_title：Clinical genetics

authors： Berge KE,Bakken A,Bøhn M,Erikssen J,Berg K

更新日期：1997-08-01 00:00:00

abstract：:The anti-atherogenic effect of cholesteryl ester transfer protein (CETP) genetic variants associated with lowered enzyme activity is controversial. Moreover, in a few studies, this effect has been evaluated in the presence of a certain risk factor constellation. We addressed this issue in a case-control study, where 4...

journal_title：Clinical genetics

authors： Arca M,Montali A,Ombres D,Battiloro E,Campagna F,Ricci G,Verna R

更新日期：2001-11-01 00:00:00

abstract：:Hobbs et al. (N. Engl. J. Med. 317: 734-737, 1987) reported a large deletion of approximately 10 kilobases in the 5' portion of the human low-density lipoprotein (LDL) receptor gene. This deletion affects about 60% of familial hypercholesterolemia (FH) heterozygotes in the French Canadian population. We have developed...

journal_title：Clinical genetics

authors： Ma YH,Bétard C,Roy M,Davignon J,Kessling AM

更新日期：1989-10-01 00:00:00

abstract：:This paper presents a female patient with a clinical picture of gonadal dysgenesis and the chromosome constitution with a monocentric isochromosome of one X and a marker chromosome 21 with deleted short arm. The proband's father and other members of the family suffered from Huntington's chorea and each of them possess...

journal_title：Clinical genetics

authors： Gaál M,Tóth A,Bösze P,László J

更新日期：1984-01-01 00:00:00

abstract：:The genetic underpinnings of recessively inherited moderate to severe sensorineural hearing loss are not well understood, despite its higher prevalence in comparison to profound deafness. We recruited 92 consanguineous families segregating stable or progressive, recessively inherited moderate or severe hearing loss. W...

journal_title：Clinical genetics

authors： Naz S,Imtiaz A,Mujtaba G,Maqsood A,Bashir R,Bukhari I,Khan MR,Ramzan M,Fatima A,Rehman AU,Iqbal M,Chaudhry T,Lund M,Brewer CC,Morell RJ,Friedman TB

更新日期：2017-04-01 00:00:00

abstract：:Two unrelated children with partial deletion of the long arm of a chromosome no. 5 are reported. The boy presented with severe hypotonia, developmental delay, and a few minor defects of the face including frontal bossing, antimongoloid slant of the palpebral fissures, depressed nasal bridge and bilateral epicanthal fo...

journal_title：Clinical genetics

authors： Silengo MC,Luzzatti L,Centerwall WR,Costello JM,Parslow M

更新日期：1981-03-01 00:00:00

abstract：:Chromosome analysis of G-banded cells from 92 individuals consecutively referred to the Cytogenetics Laboratory show that the paracentromeric band in the short arm (6p11), which stains negatively with G-banding and darkly with C-banding, shows a marked increase in size in about 9% of chromosome no. 6. The results of t...

journal_title：Clinical genetics

authors： Madan K,Bruinsma AH

更新日期：1979-02-01 00:00:00

abstract：:RNA exosome is a highly conserved ribonuclease complex essential for RNA processing and degradation. Bi-allelic variants in exosome subunits EXOSC3, EXOSC8 and EXOSC9 have been reported to cause pontocerebellar hypoplasia type 1B, type 1C and type 1D, respectively, while those in EXOSC2 cause short stature, hearing lo...

journal_title：Clinical genetics

authors： Somashekar PH,Kaur P,Stephen J,Guleria VS,Kadavigere R,Girisha KM,Bielas S,Upadhyai P,Shukla A

更新日期：2021-01-19 00:00:00