A second kindred linked to DFNA20 (17q25.3) reduces the genetic interval.

abstract：:Complex genetic diseases are often common: in most common diseases liability is influenced by genetic variation. The ways in which this variation is analyzed are discussed using diabetes, affective disorders and schizophrenia as examples. Molecular biology has opened new paths for a more incisive analysis of genetic h...

journal_title：Clinical genetics

authors： Vogel F

更新日期：1989-11-01 00:00:00

abstract：:The Coffin-Lowry syndrome (CLS) is a rare X-linked semidominant syndrome characterized by severe psychomotor retardation, facial dysmorphism, digit abnormalities and progressive skeletal deformations. CLS is caused by mutations in a gene located in Xp22.2, RPS6KA3. This gene encodes for a growth factor-regulated serin...

journal_title：Clinical genetics

authors： Delaunoy JP,Dubos A,Marques Pereira P,Hanauer A

更新日期：2006-08-01 00:00:00

abstract：:Type 1a glycogen storage disease (GSD) is an autosomal recessive metabolic disorder caused by a deficiency in glucose-6-phosphatase (G6Pase). Polymerase chain reaction (PCR) and nucleotide sequence analysis were used to identify the location and nature of mutations at the G6Pase locus in two siblings affected with typ...

journal_title：Clinical genetics

authors： Lee WJ,Lee HM,Chi CS,Shu SG,Lin LY,Lin WH

更新日期：1996-10-01 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：: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：: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：: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：:The cause of hearing impairment has not been elucidated in a large proportion of patients. We screened by 1-Mb array-based comparative genomic hybridization (aCGH) 29 individuals with syndromic hearing impairment whose clinical features were not typical of known disorders. Rare chromosomal copy number changes were det...

journal_title：Clinical genetics

authors： Catelani AL,Krepischi AC,Kim CA,Kok F,Otto PA,Auricchio MT,Mazzeu JF,Uehara DT,Costa SS,Knijnenburg J,Tabith A Jr,Vianna-Morgante AM,Mingroni-Netto RC,Rosenberg C

更新日期：2009-11-01 00:00:00

abstract：:We describe the genotypes of the complete cohort, from 1967 to 2014, of phenylketonuria (PKU) patients in Denmark, in total 376 patients. A total of 752 independent alleles were investigated. Mutations were identified on 744 PKU alleles (98.9%). In total, 82 different mutations were present in the cohort. The most fre...

journal_title：Clinical genetics

authors： Bayat A,Yasmeen S,Lund A,Nielsen JB,Møller LB

更新日期：2016-09-01 00:00:00

abstract：:The determination of acetylcholinesterase (AChE) has been shown to be as specific as alphafetoprotein (AFP) for the prenatal detection of open neural tube defects although AFP remains the method of choice. This paper describes a semi-automated technique for the analysis of acetylcholinesterase in amniotic fluid that: ...

journal_title：Clinical genetics

authors： Elejalde BR,Peck G,de Elejalde MM

更新日期：1986-03-01 00:00:00

abstract：:Classical Menkes disease is an X-linked recessive neurodegenerative disorder caused by mutations in ATP7A, which is located at Xq13.1-q21. ATP7A encodes a copper-transporting P-type ATPase and plays a critical role in development of the central nervous system. With rare exceptions involving sex chromosome aneuploidy o...

journal_title：Clinical genetics

authors： Desai V,Donsante A,Swoboda KJ,Martensen M,Thompson J,Kaler SG

更新日期：2011-02-01 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：:Autosomal dominant spinocerebellar ataxias (SCA) constitute a heterogeneous group of inherited disorders. The transglutaminase 6 (TGM6) gene was recently suggested as a SCA causative gene in Chinese SCA families. In this study, two affected members of a three-generation Chinese family with SCA characterized by progres...

journal_title：Clinical genetics

authors： Li M,Pang SY,Song Y,Kung MH,Ho SL,Sham PC

更新日期：2013-03-01 00:00:00

abstract：:In a country-wide screening examination in Sweden, PKU was observed in 75 (4.5 per 1,000) and hyperphenylalaninemia in 14 (0.8 per 1,000) of a total of 16,805 patients in institutions for the mentally retarded. In the national neonatal screening program in 1965-1975, which covered nearly 1 million individuals, PKU was...

journal_title：Clinical genetics

authors： Holmgren G,Larsson A,Palmstierna H,Alm J

更新日期：1976-12-01 00:00:00

abstract：:Triglyceride synthesis is catalyzed by acyl CoA:diacylglycerol acyltransferases (DGAT), microsomal enzymes that use diacylglycerol and fatty acyl CoAs as substrates. Because DGAT1 expression is up-regulated during adipocyte differentiation and DGAT1 deficiency is associated with leanness in mice, we hypothesized that ...

journal_title：Clinical genetics

authors： Ludwig EH,Mahley RW,Palaoglu E,Ozbayrakçi S,Balestra ME,Borecki IB,Innerarity TL,Farese RV Jr

更新日期：2002-07-01 00:00:00

abstract：:Serum-trypsin-inhibitory-capacity (STIC) and alpha1-antitrypsin (AAT) genotypes were evaluated in 83 twins and 112 paired parents-of-twins. An increased prevalence (17.0--21.9%) of intermediate AAT deficiency (STIC less than 0.95 units/ml) was detected in both of these groups as compared to a prevalence of 4.1% in 1,8...

journal_title：Clinical genetics

authors： Lieberman J,Borhani NO,Feinleib M

更新日期：1979-01-01 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：:In an epidemiological study, infants identified at birth as having sex chromosome anomalies are enrolled in a voluntary, long term evaluations program. Case histories are presented of the first four boys in the series to have a 47,XXY karyotype. They have been followed from birth for 6 to 9 years, with physical and ps...

journal_title：Clinical genetics

authors： Puck M,Tennes K,Frankenburg W,Bryant K,Robinson A

更新日期：1975-01-01 00:00:00

abstract：:XLαs, the extra-large isoform of alpha-subunit of the stimulatory guanine nucleotide-binding protein (Gsα), is paternally expressed. The significance of XLαs in humans remains largely unknown. Here, we report a patient who presented with increased bone mass, hypophosphatemia, and elevated parathyroid hormone (PTH) lev...

journal_title：Clinical genetics

authors： Chen X,Meng Y,Tang M,Wang Y,Xie Y,Wan S,Tian H,Yu X

更新日期：2020-05-01 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：:Psoriasis is a multifactorial skin disease characterised by epidermal abnormalities and infiltration by lymphocytes and polymorphonuclear leukocytes (PMN). Skin-derived antileukoproteinase (SKALP), also known as elafin, is a potent inhibitor of human leukocyte elastase and proteinase 3, two PMN-derived proteinases imp...

journal_title：Clinical genetics

authors： Kuijpers AL,Pfundt R,Zeeuwen PL,Molhuizen HO,Mariman EC,van de Kerkhof PC,Schalkwijk J

更新日期：1998-07-01 00:00:00

abstract：:We describe 2 patients with Angelman syndrome (AS) due to paternal uniparental disomy (UPD). One patient is a female aged 30 years and the other a male aged 4 1/2 years. Both have the characteristic wide mouth and big chin, moderate mental retardation, virtually no speech but some 30 words of sign language and a happy...

journal_title：Clinical genetics

authors： Smith A,Robson L,Buchholz B

更新日期：1998-03-01 00:00:00

abstract：:Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS) are two congenital disorders with opposite outcomes on fetal growth, overgrowth and growth restriction, respectively. Although both disorders are heterogeneous, most cases of BWS and SRS are associated with opposite epigenetic or genetic abnormalities...

journal_title：Clinical genetics

authors： Jacob KJ,Robinson WP,Lefebvre L

更新日期：2013-10-01 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：:Congenital heart disease (CHD) is one of most prevalent birth defects in the world. However, the underlying molecular mechanism(s) have not been fully understood. Here we report that increased CHD susceptibility is associated with genetic polymorphisms for de novo nucleotide biosynthesis in northern Chinese population...

journal_title：Clinical genetics

authors： Jiang YC,Kuang LL,Sun SN,Duan WY,Qiao B,Wang HY

更新日期：2017-05-01 00:00:00

abstract：:A slowly progressive type of muscular dystrophy affecting 11 known members of several Southern Manitoba Hutterite colonies is described. Though encompassing the facial characteristics of the facio-scapulo-humeral type and the proximal distribution of the limb-girdle type, it was felt that this disease represents a dis...

journal_title：Clinical genetics

authors： Shokeir MH,Kobrinsky NL

更新日期：1976-02-01 00:00:00

abstract：:Most publications on the ethical aspects of genetic research into Alzheimer's Disease (AD) concentrate on the differences between the opinions of professionals and non-professionals. Differences in rating of morally relevant issues between groups of professionals have not yet been described. A modified Delphi study in...

journal_title：Clinical genetics

authors： van der Vorm A,van der Laan AL,Borm G,Vernooij-Dassen M,Olde Rikkert M,van Leeuwen E,Dekkers W

更新日期：2010-04-01 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：:The logistic regression model is a popular model for data analysis in epidemiological research. In this paper, we use this model to analyze genetic data collected from gene-longevity association studies. This new approach models the probability of observing one genotype as a function of the age of investigated individ...

journal_title：Clinical genetics

authors： Tan Q,Yashin AI,De Benedictis G,Cintolesi F,Rose G,Bonafe M,Franceschi C,Vach W,Vaupel JW

更新日期：2001-12-01 00:00:00

abstract：:The Vietnam Era Twin Registry (VETR) is a registry of 7375 American male veteran twin pairs born between 1939 and 1955 who served in the armed forces of the United States between 1964 and 1975. Optimal use of registry data requires the determination of zygosity. Two approaches are available: analysis of blood genetic ...

journal_title：Clinical genetics

authors： Eisen S,Neuman R,Goldberg J,Rice J,True W

更新日期：1989-06-01 00:00:00