Trisomy 18 mosaicism associated with secondary amenorrhea: ratios of mosaicism in different samples and complications.

abstract：:Hunter syndrome or mucopolysaccharidosis type II (MPSII) is caused by pathogenic variants in the IDS gene. This is the first study that examines the mutational spectrum in 25 unrelated Mexican MPSII families. The responsible genotype was identified in 96% of the families (24/25) with 10 novel pathogenic variants: c.13...

journal_title：Clinical genetics

authors： Alcántara-Ortigoza MA,García-de Teresa B,González-Del Angel A,Berumen J,Guardado-Estrada M,Fernández-Hernández L,Navarrete-Martínez JI,Maza-Morales M,Rius-Domínguez R

更新日期：2016-05-01 00:00:00

abstract：:The ability of statins to strongly reduce low-density lipoprotein cholesterol (LDL-C) varies interindividually and is partially influenced by genetic variants. Based on a comprehensive analysis of 23 single nucleotide polymorphisms (SNPs) known to be associated with pharmacokinetics and dynamics of statins, we develop...

journal_title：Clinical genetics

authors： Ciuculete DM,Bandstein M,Benedict C,Waeber G,Vollenweider P,Lind L,Schiöth HB,Mwinyi J

更新日期：2017-03-01 00:00:00

abstract：:We report the case of a child with partial trisomy of the short arm of chromosome 17, which was characterized by 24-color spectral karyotyping (SKY) and other fluorescence in situ hybridization (FISH) methods. The child had phenotypic features previously associated with trisomy 17p, including facial characteristics, d...

journal_title：Clinical genetics

authors： Morelli SH,Deubler DA,Brothman LJ,Carey JC,Brothman AR

更新日期：1999-05-01 00:00:00

abstract：:Chromosome displays and listings are presented showing loci whose position is known in both man and mouse, in similar manner to our previous report (Dalton et al. 1981). There is now evidence for at least 27 conserved autosomal segments with two or more loci in the two species. The human and mouse chromosome maps show...

journal_title：Clinical genetics

authors： Buckle VJ,Edwards JH,Evans EP,Jonasson JA,Lyon MF,Peters J,Searle AG,Wedd NS

更新日期：1984-07-01 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 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：:Lysine methyltransferase 2D (KMT2D; OMIM 602113) encodes a histone methyltransferase involved in transcriptional regulation of the beta-globin and estrogen receptor as part of a large protein complex known as activating signal cointegrator-2-containing complex (ASCOM). Heterozygous germline mutations in the KMT2D gene...

journal_title：Clinical genetics

authors： Tekendo-Ngongang C,Kruszka P,Martinez AF,Muenke M

更新日期：2019-09-01 00:00:00

abstract：:Two brothers, products of a consanguineous marriage, had severe hypoplastic genitalia and cardiomyopathy. These findings are similar to those of three other brothers of another consanguineous family who in addition had evidence of mental retardation. These five boys probably represent a previously undescribed syndrome...

journal_title：Clinical genetics

authors： Najjar SS,Der Kaloustian VM,Ardati KO

更新日期：1984-10-01 00:00:00

abstract：:To obtain insight into the genetic variation of the low-density lipoprotein (LDL) receptor gene in Korean patients with familial hypercholesterolemia (FH), we used single-strand conformation polymorphism to screen all 18 exons and a promotor of the LDL receptor gene in 20 unrelated Korean FH patients. Four novel point...

journal_title：Clinical genetics

authors： Shin JA,Kim SH,Kim UK,Chae JJ,Choe SJ,Namkoong Y,Kim HS,Park YB,Lee CC

更新日期：2000-03-01 00:00:00

abstract：:X-linked cleft palate (CPX) is caused by mutations in the gene encoding the TBX22 transcription factor and is known to exhibit phenotypic variability, usually involving either a complete, partial or submucous cleft palate, with or without ankyloglossia. This study hypothesized a possible involvement of TBX22 in a fami...

journal_title：Clinical genetics

authors： Pauws E,Peskett E,Boissin C,Hoshino A,Mengrelis K,Carta E,Abruzzo MA,Lees M,Moore GE,Erickson RP,Stanier P

更新日期：2013-04-01 00:00:00

abstract：:The nitric oxide synthase (NOS) gene is thought to be associated with essential hypertension (EH), because NO is implicated in endothelium-mediated vasodilation. We investigated the possible association between the alleles of simple tandem repeat DNA polymorphism of the endothelial constitutive NOS (cNOS) gene and EH ...

journal_title：Clinical genetics

authors： Nakayama T,Soma M,Takahashi Y,Izumi Y,Kanmatsuse K,Esumi M

更新日期：1997-01-01 00:00:00

abstract：:In this report we describe the association of retinitis pigmentosa, hearing loss and vitiligo in two non-related patients. The second patient developed, in addition, an axonal polyneuritis after the age of 30. Previous reports dealing with this unusual combination of symptoms are discussed. ...

journal_title：Clinical genetics

authors： Dereymaeker AM,Fryns JP,Ars J,Andresescu J,van den Berghe H

更新日期：1989-05-01 00:00:00

abstract：:An abnormality of chromosome 16 in which there is extra genetic material present on the short arm (46,XY, 16p+) has been identified. This chromosomal aberration was associated with multiple congenital anomalies, including mid-facial hypoplasia, arthrogryposis, and mental retardation. On the basis of the cytogenetic ap...

journal_title：Clinical genetics

authors： Golden NL,Bilenker R,Johnson WE,Tischfield JA

更新日期：1981-01-01 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：:Germline mutations (eg, BRCA1/2) have prognostic and treatment implications for ovarian cancer (OVCA) patients. Thus, national guidelines recommend genetic testing for OVCA patients. The present study examines patterns and predictors of genetics referral in OVCA patients. Electronic medical record data were abstracted...

journal_title：Clinical genetics

authors： Mallen AR,Conley CC,Townsend MK,Wells A,Boac BM,Todd S,Gandhi A,Kuznicki M,Augusto BM,McIntyre M,Fridley BL,Tworoger SS,Wenham RM,Vadaparampil ST

更新日期：2020-02-01 00:00:00

abstract：:For many years, a considerable number of patients with autoimmune diseases (ADs) have suffered from a lack of drug response and drug-related toxicity. Despite the emergence of new therapeutic options such as biological agents, patients continue to struggle with these problems. Unfortunately, new challenges, including ...

journal_title：Clinical genetics

authors： Tavakolpour S,Darvishi M,Ghasemiadl M

更新日期：2018-03-01 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：: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：:Cutis laxa (CL) syndromes comprise a rare group of multisystem disorders that share loose redundant skin folds as hallmark clinical feature. CL results from impaired elastic fiber assembly and homeostasis, and the known underlying gene defects affect different extracellular matrix proteins, intracellular trafficking, ...

journal_title：Clinical genetics

authors： Beyens A,Boel A,Symoens S,Callewaert B

更新日期：2021-01-01 00:00:00

abstract：:In a clinical setting diagnosis, heritability, risk and outcome of human disease rely heavily on the use of markers present in specific tissues. In the past decade, the development of genome-wide, non-hypothesis driven methods to identify molecular markers associated with disease have led to the discovery of numerous ...

journal_title：Clinical genetics

authors： Zaina S,Lund G

更新日期：2012-04-01 00:00:00

abstract：:An emerging challenge facing those who are concerned about the efficacy of public health programs is to understand how information from the DNA revolution might be used to improve our ability to predict the initiation, progression and severity of a common disease having a complex multifactorial etiology. In the course...

journal_title：Clinical genetics

authors： Sing CF,Zerba KE,Reilly SL

更新日期：1994-07-01 00:00:00

abstract：:PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy. Thauvin-Robinet et al. (2013) The American Journal of Human Genetics 93: 141-149 SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signalling. Chudasama et al. (2013) The American Journal of Human Genetics 93: 1...

journal_title：Clinical genetics

authors： Chung BK,Gibson WT

更新日期：2014-03-01 00:00:00

abstract：:Congenital insensitivity to pain with anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV is a rare, autosomal recessive neurologic disorder, characterized by absence of reaction to painful stimuli, mental retardation, self- mutilating behavior, anhidrosis, and recurrent episodes of hyperthermia. ...

journal_title：Clinical genetics

authors： Suriu C,Khayat M,Weiler M,Kfir N,Cohen C,Zinger A,Aslanidis C,Schmitz G,Falik-Zaccai TC

更新日期：2009-03-01 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：: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：: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：:We report on a 20-year-old male with severe Charcot-Marie-Tooth (CMT) disease and a de novo deletion (c.281delG, p.G94AfsX17) on the paternal PMP22 allele harboring c.353C>T (p.T118M). RNA-based sequence analysis confirmed the absence of nonsense-mediated decay and the presence of the mutant transcripts in Epstein-Bar...

journal_title：Clinical genetics

authors： Niedrist D,Joncourt F,Mátyás G,Müller A

更新日期：2009-03-01 00:00:00

abstract：:This study explored the role of TCOF1 insertion mutations in Taiwanese patients with craniofacial anomalies. Twelve patients with single or multiple, asymmetrical congenital craniofacial anomalies were enrolled. Genomic DNA was prepared from leukocytes; the coding regions of TCOF1 were analyzed by polymerase chain rea...

journal_title：Clinical genetics

authors： Su PH,Liu YF,Yu JS,Chen JY,Chen SJ,Lai YJ

更新日期：2012-11-01 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：: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