Molecular analysis of Y chromosome long arm structural instability in patients with gonadal dysfunction.

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：:This report describes a 46,XY phenotypic female infant with absent uterus, probable agonadism, and bilateral upper amelia. The constellation of anomalies is similar to that of the patient described by Temoçin et al. (Acta Paediatr Jpn 1997: 39: 631-633), and may suggest a developmental link between genital region and ...

journal_title：Clinical genetics

authors： Ohro Y,Suzuki Y,Tsutsumi Y,Ogata T

更新日期：1998-07-01 00:00:00

abstract：:Variable constitutional mosaicism, mos45,XY,-22/46,XY,-22,+mar/46,XY,-22,+r(22)/47,XY,-22,+r(22)+mar/ 47, XY,-22,+r(22)*2, was found in PHA-stimulated peripheral blood, in a lymphoblastoid cell line and in cultured skin fibroblasts from a mentally retarded patient with neurofibromatosis. Both the ring chromosome and t...

journal_title：Clinical genetics

authors： Tommerup N,Warburg M,Gieselmann V,Hansen BR,Koch J,Petersen GB

更新日期：1992-10-01 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：:A case of Fanconi anemia with terminal acute leukemia is reported. Clones with chromosome abnormalities were observed in bone marrow cells. The patterns of marker chromosome distribution in these clones suggests the occurrence of a somatic segregation mechanism. ...

journal_title：Clinical genetics

authors： Berger R,Bussel A,Schenmetzler C

更新日期：1977-06-01 00:00:00

abstract：:We investigated whether an association exists between genetic variants of the human obesity (OB or leptin) gene and body mass index (BMI) or weight in subjects with Prader Willi syndrome (PWS) and in age- and gender-matched lean and obese subjects without PWS. The study included 51 subjects with PWS (mean age = 17.7 +...

journal_title：Clinical genetics

authors： Butler MG,Hedges L,Hovis CL,Feurer ID

更新日期：1998-11-01 00:00:00

abstract：:From a large cohort of hyperlipidemic patients, who attended the Lipid Research Clinic in Amsterdam, The Netherlands and in Vancouver, Canada, 915 consecutive patients with familial hypercholesterolemia (FH) of Dutch descent, were selected. This group of FH patients was screened for the presence of a cytosine to thymi...

journal_title：Clinical genetics

authors： Defesche JC,van de Ree MA,Kastelein JJ,van Diermen DE,Janssens NW,van Doormaal JJ,Hayden MR

更新日期：1992-12-01 00:00:00

abstract：:Female heterozygotes for the fragile X syndrome show variable levels of mental handicap from normal to severely retarded. The degree to which they are affected may depend upon whether the fragile or the normal X chromosome is preferentially inactivated, but one of the problems with the use of BUdR for the study of Lyo...

journal_title：Clinical genetics

authors： Tuckerman E,Webb T

更新日期：1989-07-01 00:00:00

abstract：:A study of 73 patients with the Sanfilippo syndrome (36 patients with Sanfilippo A disease, 23 with Sanfilippo B disease and 14 with Sanfilippo C disease) revealed both intertype and intratype variability. The course of the disease was relatively mild in Sanfilippo B disease and dementia was less severe. Type A showed...

journal_title：Clinical genetics

authors： van de Kamp JJ,Niermeijer MF,von Figura K,Giesberts MA

更新日期：1981-08-01 00:00:00

abstract：:The clinical impact of duplications affecting the 11p15.5 region is difficult to predict, and depends on the parent-of-origin of the affected allele as well as on the type (deletion, duplication), the extent and genomic content of the variant. Three unrelated families with inheritance of duplications affecting the IC1...

journal_title：Clinical genetics

authors： Eggermann T,Kraft F,Kloth K,Klopocki E,Hüning I,Hempel M,Kunstmann E

更新日期：2020-10-01 00:00:00

abstract：:A sibship consisting of three siblings, one male and two females with unrelated parents, showed a clinical syndrome including: infantile spasms with hypsarrhythmia, microcephaly, severe mental retardation and spastic quadriplegia. The pneumoencephalogram performed in two sibs showed agenesis of the corpus callosum and...

journal_title：Clinical genetics

authors： Cao A,Cianchetti C,Signorini E,Loi M,Sanna G,De Virgiliis S

更新日期：1977-11-01 00:00:00

abstract：:Emery-Dreifuss muscular dystrophy (EDMD) is a heterogeneous genetic disorder characterized by peripheral muscular weakness often associated with dilated cardiomyopathy. We characterize clinically a large family with a mutation in FHL1 gene (p.Cys255Ser). Penetrance was 44%, 100% for males and 18% for females. The hear...

journal_title：Clinical genetics

authors： San Román I,Navarro M,Martínez F,Albert L,Polo L,Guardiola J,García-Molina E,Muñoz-Esparza C,López-Ayala JM,Sabater-Molina M,Gimeno JR

更新日期：2016-08-01 00:00:00

abstract：:SATB2-associated syndrome (SAS) is a recently identified disorder characterized by neurodevelopmental deficits and craniofacial anomalies. Assessments of speech, language, and feeding-related issues were conducted among 61 individuals with SAS (median age = 86 months, range = 26 months to 29 years of age). Individuals...

journal_title：Clinical genetics

authors： Thomason A,Pankey E,Nutt B,Caffrey AR,Zarate YA

更新日期：2019-12-01 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：:A number of studies have reported on possible relationships between a hypervariable sequence near the 5' end of the insulin gene and some common diseases. Control populations within these studies appear to disobey the Hardy-Weinberg equilibrium. In this study we have ascertained the allele frequencies in 181 random in...

journal_title：Clinical genetics

authors： Hubbard AL,Clayton JF

更新日期：1986-10-01 00:00:00

abstract：:Acrodysostosis is characterized by a peripheral dysostosis that is accompanied by short stature, midface hypoplasia, and developmental delay. Recently, it was shown that heterozygous point mutations in the PRKAR1A gene cause acrodysostosis with hormone resistance. By mutational analysis of the PRKAR1A gene we detected...

journal_title：Clinical genetics

authors： Muhn F,Klopocki E,Graul-Neumann L,Uhrig S,Colley A,Castori M,Lankes E,Henn W,Gruber-Sedlmayr U,Seifert W,Horn D

更新日期：2013-12-01 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：:Exome sequencing is rapidly becoming a fundamental tool for genetics and functional genomics laboratories. This methodology has enabled the discovery of novel pathogenic mutations causing mendelian diseases that had, until now, remained elusive. In this review, we discuss not only how we envisage exome sequencing bein...

journal_title：Clinical genetics

authors： Bras JM,Singleton AB

更新日期：2011-08-01 00:00:00

abstract：:A follow-up study of 212 families for whom genetic counseling had been provided was performed to assess the effectiveness of the non-directive genetic counseling service at the Mount Sinai Medical Center in New York City. The preliminary result have been reported previously (Godmilow & Hirschhorn 1977). Of those famil...

journal_title：Clinical genetics

authors： Abramovsky I,Godmilow L,Hirschhorn K,Smith H Jr

更新日期：1980-01-01 00:00:00

abstract：:A 14-year-old boy is reported with bilateral hypoplastic patellae and multiple congenital skeletal anomalies. Since this constellation of bony malformations has not been described previously, we believe this represents a new syndrome most probably of genetic etiology. ...

journal_title：Clinical genetics

authors： Sandhaus YS,Ben-Ami T,Chechick A,Goodman RM

更新日期：1987-03-01 00:00:00

abstract：:Two siblings born to consanguineous Bedouin parents and grandparents are reported with the phenotypic features of Ehlers-Danlos Syndrome (EDS), type VI. In addition, the affected individuals have a polyneuropathy as confirmed by nerve conduction velocity, electromyographic and muscle biopsy studies. We propose that th...

journal_title：Clinical genetics

authors： Farag TI,Schimke RN

更新日期：1989-02-01 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：:We present a family with adult onset autosomal dominant polycystic kidney disease (ADPKD) in two generations, linked to the PKD1 locus and with paternal transmission to the fetus. The fetus carried the PKD1 haplotype and was, therefore a gene carrier. Progressive hyperechogenic renal enlargement, but no cysts, was doc...

journal_title：Clinical genetics

authors： Jeffery S,Saggar-Malik AK,Economides DL,Blackmore SE,MacDermot KD

更新日期：1998-04-01 00:00:00

abstract：:We utilized a sample of 299 adult females aged between 19 and 86 years, carrying fragile X mental retardation (FMR1) alleles with small CCG expansions ranging from 50 to 141 repeats to analyse the relationships between psychological symptoms as assessed by the Symptom Checklist-90-Revised (SCL-90-R) and the size of th...

journal_title：Clinical genetics

authors： Loesch DZ,Bui MQ,Hammersley E,Schneider A,Storey E,Stimpson P,Burgess T,Francis D,Slater H,Tassone F,Hagerman RJ,Hessl D

更新日期：2015-02-01 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：:A four generation family with postaxial polydactyly of hands and feet and dental anomalies is reported. Lower and upper incisors were abnormal in shape and number. Additional findings were prominent ear anthelices, hypoplastic and dysplastic nails and mild shortness of stature. Inheritance was dominant with variable e...

journal_title：Clinical genetics

authors： Roubicek M,Spranger J

更新日期：1984-12-01 00:00:00

abstract：:Marinesco-Sjøgren syndrome and hypergonadotropic hypogonadism were observed in two kindreds, and they were found to occur togetherin 9 out of 10 affected individuals. The last patient had Marinesco-Sjøgren syndrome without manifestations of hypogonadism, and similar findings were observed in two affected sisters from ...

journal_title：Clinical genetics

authors： Skre H,Berg K

更新日期：1977-01-01 00:00:00

abstract：:We report a family in which a woman with the mosaic karyotype 45,X/46,X,del(X)(p21.2) transmitted the deleted X chromosome to two daughters. The nature of the deletion was confirmed by fluorescent in situ hybridization (FISH). All three family members showed somatic Ullrich-Turner syndrome features, but only one daugh...

journal_title：Clinical genetics

authors： Zinn AR,Ouyang B,Ross JL,Varma S,Bourgeois M,Tonk V

更新日期：1997-10-01 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：:Monoamine oxidase activity was assayed in platelets from 32 apparently healthy subjects using phenethylamine as substrate and two concentrations of oxygen (0.06 and 0.12 mM). Apparent Km (microM) and Vmax (nmol/mg protein/5 min) values were estimated from double reciprocal plots. The means of the Km and Vmax values we...

journal_title：Clinical genetics

authors： Koide Y,Sääf J,Roos SB,Wahlund LO,Wetterberg L

更新日期：1981-05-01 00:00:00