Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.

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：:An allele association study of 19 polymorphisms in surfactant proteins SP-A1, SP-A2, SP-B, and SP-D genes in acute respiratory distress syndrome (ARDS) was carried out. Trend-test analysis revealed differences (p < 0.05) in the frequency of alleles for some of the microsatellite markers flanking SP-B, and for one poly...

journal_title：Clinical genetics

authors： Lin Z,Pearson C,Chinchilli V,Pietschmann SM,Luo J,Pison U,Floros J

更新日期：2000-09-01 00:00:00

abstract：:We have studied the role of three polymorphic genes of the renin-angiotensin system (RAS) as independent risk factors for myocardial infarction (MI) and their correlation with three of the major coronary risk factors: serum cholesterol (CH), hypertension (HT) and smoking (SM). A population of 392 men was genotyped for...

journal_title：Clinical genetics

authors： Fernández-Arcás N,Dieguez-Lucena JL,Muñoz-Morán E,Ruiz-Galdón M,Espinosa-Caliani S,Aranda-Lara P,Rius-Diaz F,Gaitán-Arroyo MJ,De Teresa-Galván E,Reyes-Engel A

更新日期：2001-07-01 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：:NR4A2, a member of the nuclear receptor superfamily, is involved in modulation of target gene transcription, regulating several developmental processes such as regulation of cellular homeostasis, neuronal development, inflammation and carcinogenesis. 2q24.1 deletions are extremely rare, and only 1 patient with a de no...

journal_title：Clinical genetics

authors： Lévy J,Grotto S,Mignot C,Maruani A,Delahaye-Duriez A,Benzacken B,Keren B,Haye D,Xavier J,Heulin M,Charles E,Verloes A,Dupont C,Pipiras E,Tabet AC

更新日期：2018-08-01 00:00:00

abstract：:Mental retardation associated with short stature, craniofacial dysmorphism, macrodontia and minor skeletal anomalies is reported in two sisters and their mother. The similarity with and the relationship to the KBG syndrome is discussed and the importance of clinical syndrome identification in familial mental retardati...

journal_title：Clinical genetics

authors： Fryns JP,Haspeslagh M

更新日期：1984-07-01 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：:We have detected a novel mutation in the adrenoleukodystrophy (ALD) gene in skin fibroblasts in primary culture derived from a patient suffering from the adrenocortical insufficiency-only-phenotype of ALD. This nonsense mutation (C2400T/Q672X) is the only mutation reported to date affecting exon 10. It leads to a tran...

journal_title：Clinical genetics

authors： Holzinger A,Maier E,Stöckler-Ipsiroglu S,Braun A,Roscher AA

更新日期：1998-06-01 00:00:00

abstract：:In the present study the kindred with Marner's cataract (CAM), which now comprises nine generations, was examined for linkage with 14 marker loci. We found strong evidence for linkage to haptoglobin, zmax = 8.33 at thetamax = 0.05 for males and thetamax = 0.04 for females. ...

journal_title：Clinical genetics

authors： Eiberg H,Marner E,Rosenberg T,Mohr J

更新日期：1988-10-01 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：:A 28-year-old woman who complained of irregular menstruation was diagnosed as suffering from trisomy 18 mosaicism. She was karyotyped because of her characteristic face, mild mental retardation and aberrant hyperpigmentation of the skin. Her motor function was within normal range. Physical and laboratory examinations,...

journal_title：Clinical genetics

authors： Uehara S,Obara Y,Obara T,Funato T,Yaegashi N,Fukaya T,Yajima A

更新日期：1996-02-01 00:00:00

abstract：:Pathogenic biallelic variants in the BLM/RECQL3 gene cause a rare autosomal recessive disorder called Bloom syndrome (BS). This syndrome is characterized by severe growth delay, immunodeficiency, dermatological manifestations and a predisposition to a wide variety of cancers, often multiple and very early in life. Lit...

journal_title：Clinical genetics

authors： Backers L,Parton B,De Bruyne M,Tavernier SJ,Van Den Bogaert K,Lambrecht BN,Haerynck F,Claes KBM

更新日期：2021-02-01 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：:Missense MECP2 variants can have various phenotypic effects ranging from a normal phenotype to typical Rett syndrome (RTT). In females, the phenotype can also be influenced by the X-inactivation pattern. In this study, we present detailed clinical descriptions of six patients with a rare base-pair substitution affecti...

journal_title：Clinical genetics

authors： Schönewolf-Greulich B,Tejada MI,Stephens K,Hadzsiev K,Gauthier J,Brøndum-Nielsen K,Pfundt R,Ravn K,Maortua H,Gener B,Martínez-Bouzas C,Piton A,Rouleau G,Clayton-Smith J,Kleefstra T,Bisgaard AM,Tümer Z

更新日期：2016-06-01 00:00:00

abstract：:In a Danish family highly susceptible to ischemic heart disease, hyperlipidemia did not simply cosegregate with a previously undescribed 10 bp deletion in the LDL receptor gene causing heterozygous familial hypercholesterolemia (FH). This mutation, designated as FH DK-4, deletes 10 nucleotides from exon 4 coding for t...

journal_title：Clinical genetics

authors： Jensen HK,Hansen PS,Jensen LG,Kristensen MJ,Klausen IC,Kjeldsen M,Lemming L,Bolund L,Gregersen N,Faergeman O

更新日期：1995-07-01 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：:Ophthalmology has been an early adopter of personalized medicine. Drawing on genomic advances to improve molecular diagnosis, such as next-generation sequencing, and basic and translational research to develop novel therapies, application of genetic technologies in ophthalmology now heralds development of gene replace...

journal_title：Clinical genetics

authors： Porter LF,Black GC

更新日期：2014-07-01 00:00:00

abstract：:Disorders of the Ras/mitogen-activated protein kinase (MAPK) pathway have an overlapping skeletal phenotype (e.g. scoliosis, osteopenia). The Ras proteins regulate cell proliferation and differentiation and neurofibromatosis type 1 (NF1) individuals have osteoclast hyperactivity and increased bone resorption as measur...

journal_title：Clinical genetics

authors： Stevenson DA,Schwarz EL,Carey JC,Viskochil DH,Hanson H,Bauer S,Weng HY,Greene T,Reinker K,Swensen J,Chan RJ,Yang FC,Senbanjo L,Yang Z,Mao R,Pasquali M

更新日期：2011-12-01 00:00:00

abstract：:In all known congenital imprinting disorders an association with aberrant methylation or mutations at specific loci was well established. However, several patients with transient neonatal diabetes mellitus (TNDM), Silver-Russell syndrome (SRS) and Beckwith-Wiedemann syndrome (BWS) exhibiting multilocus hypomethylation...

journal_title：Clinical genetics

authors： Begemann M,Spengler S,Kanber D,Haake A,Baudis M,Leisten I,Binder G,Markus S,Rupprecht T,Segerer H,Fricke-Otto S,Mühlenberg R,Siebert R,Buiting K,Eggermann T

更新日期：2011-07-01 00:00:00

abstract：:Silver-Russell syndrome (SRS) is a genetically heterogeneous disorder characterized by intrauterine and postnatal growth retardation, typical facial features and a spectrum of additional features including body and limb asymmetry and clinodactyly. Maternal uniparental disomy for chromosome 7 (upd(7)mat) was shown to o...

journal_title：Clinical genetics

authors： Behnecke A,Hinderhofer K,Jauch A,Janssen JW,Moog U

更新日期：2012-11-01 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：: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：:Two hundred and seventy-four patients with hemochromatosis and 1005 controls were HLA-typed, and HLA haplotypes were determined for 163 patients and 123 controls. The increased frequency of antigen A3 and haplotypes A3, B7 and A3, B14 in patients with hemochromatosis was confirmed. After correction for the space taken...

journal_title：Clinical genetics

authors： Le Mignon L,Simon M,Fauchet R,Edan G,Le Reun M,Brissot P,Genetet B,Bourel M

更新日期：1983-09-01 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：:A mild type of autosomal recessive, non-syndromic mental retardation (NSMR) is linked to loci on chromosome 3p. This report delimits the MRT2A minimal critical region to 4.2 Mb between loci D3S3630 and D3S1304. This interval contains nine genes (IL5RA, TRNT1, LRRN1, SETMAR, SUMF1, ITPR1, BHLHB2, EDEM, and MRPS36P1). T...

journal_title：Clinical genetics

authors： Higgins JJ,Pucilowska J,Lombardi RQ,Rooney JP

更新日期：2004-06-01 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

abstract：:Germline mutations in succinate dehydrogenase B (SDHB) predispose to hereditary paraganglioma (PGL) syndrome type 4. The risk of developing PGL or pheochromocytoma (PHEO) in SDHB mutation carriers is subject of recent debate. In the present nationwide cohort study of SDHB mutation carriers identified by the clinical g...

journal_title：Clinical genetics

authors： Rijken JA,Niemeijer ND,Jonker MA,Eijkelenkamp K,Jansen JC,van Berkel A,Timmers HJLM,Kunst HPM,Bisschop PHLT,Kerstens MN,Dreijerink KMA,van Dooren MF,van der Horst-Schrivers ANA,Hes FJ,Leemans CR,Corssmit EPM,Hensen EF

更新日期：2018-01-01 00:00:00

abstract：:Methods are presented to estimate relative fitness of carriers as a function of fertility, survival, are generation time in pedigrees under incomplete ascertainment. A large sample of diverse chromosomal aberrations reveals significant effects on all three parameters, giving a relative fitness of .769 +/- .039. There ...

journal_title：Clinical genetics

authors： Morton NE,Jacobs PA,Frackiewicz A,Law P,Hilditch CJ

更新日期：1975-09-01 00:00:00

abstract：:Gynecological cancers pose a significant threat to women's health worldwide, with cervical cancer, ovarian cancer, and endometrial cancer having high incidences. Current gynecological cancer treatment methods mainly include surgery, chemotherapy, radiotherapy, and chemoradiotherapy. The CRISPR-Cas9 gene editing techno...

journal_title：Clinical genetics

authors： Zhang W,Liu Y,Zhou X,Zhao R,Wang H

更新日期：2020-06-01 00:00:00

abstract：:While there are many reports in the literature of mutation testing of BRCA1 and BRCA2 in breast/ovarian cancer families, the question of which type of ovarian cancers are relevant still pertains. We have undertaken whole gene screening including multiple ligation-dependent probe amplification in an affected individual...

journal_title：Clinical genetics

authors： Evans DG,Young K,Bulman M,Shenton A,Wallace A,Lalloo F

更新日期：2008-04-01 00:00:00