Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype.

abstract：:Glucocerebrosidase activity in extracts of leukocytes, Epstein-Barr virus transformed lymphocytes and fibroblasts from Portuguese Type 1 Gaucher disease patients was studied. The residual glucocerebrosidase activity in all extracts from patients was less than 25% if measured in the presence of bile salt taurocholate. ...

journal_title：Clinical genetics

authors： Sa Miranda MC,Aerts JM,Pinto R,Fontes A,de Lacerda LW,van Weely S,Barranger J,Tager JM

更新日期：1990-09-01 00:00:00

abstract：:In some anencephalic fetuses exposed neural tissue mass of varied size can be demonstrated. This is known as exencephaly. The authors diagnosed by ultrasound 10 typical exencephalic cases prenatally between 14 and 21 weeks of gestation. Nine singular pregnancies were terminated and in the twin pregnancy a selective fe...

journal_title：Clinical genetics

authors： Papp Z,Csécsei K,Tóth Z,Polgár K,Szeifert GT

更新日期：1986-11-01 00:00:00

abstract：:We describe a pedigree in which four male members are affected by a contiguous gene abnormality involving the short arm of the X chromosome (Xp22.32). Bivariate flow cytometry of lymphoblastoid cell lines from two of these individuals and a normal male showed a 6-7 megabase deletion in affected males, and high resolut...

journal_title：Clinical genetics

authors： Bouloux PM,Kirk J,Munroe P,Duke V,Meindl A,Hilson A,Grant D,Carter N,Betts D,Meitinger T

更新日期：1993-04-01 00:00:00

abstract：:Specific mitochondrial enzymatic deficiencies in the catabolism of branched-chain amino acids cause methylmalonic aciduria (MMA), propionic acidemia (PA) and maple syrup urine disease (MSUD). Disease-causing mutations were identified in nine unrelated branched-chain organic acidurias (BCOA) patients. We detected eight...

journal_title：Clinical genetics

authors： Stojiljkovic M,Klaassen K,Djordjevic M,Sarajlija A,Brasil S,Kecman B,Grkovic S,Kostic J,Rodriguez-Pombo P,Desviat LR,Pavlovic S,Perez B

更新日期：2016-09-01 00:00:00

abstract：:A genealogical survey of familial amyloid polyneuropathy in the Arao district of Japan was undertaken, and the data were analysed statistically. The survey revealed 92 patients (46 males and 46 females) in 9 families. Thirty-one of the patients (16 males and 15 females) are alive. For 44 patients, the mean age of onse...

journal_title：Clinical genetics

authors： Sakoda S,Suzuki T,Higa S,Ueji M,Kishimoto S,Hayashi A,Yasuda N,Takaba Y,Nakajima A

更新日期：1983-11-01 00:00:00

abstract：:Within 3 working days in September, 1974, we made three prenatal diagnoses of 47,XY,+21 from three women of advanced maternal age. Two were 37 and 38 years old, respectively, and nulliparous. One was 42 years old and had four normal children. The possibility of cell contamination arose when the second diagnosis of tri...

journal_title：Clinical genetics

authors： Hsu LY,Godmilow L,Serotkiq AV,Hirschhorn K

更新日期：1976-04-01 00:00:00

abstract：:In order to evaluate the involvement of the peripheral autonomic nervous system in the pathogenesis of type 1 familial amyloid polyneuropathy, the urinary excretion rates of catecholamines and serum dopamine-beta-hydroxylase (DB/) activity were examined in 22 patients at various clinical stages. Changes in both indice...

journal_title：Clinical genetics

authors： Suzuki T,Tsuge I,Higa S,Hayashi A,Yamamura Y,Takaba Y,Nakajima A

更新日期：1979-08-01 00:00:00

abstract：:A de novo supernumerary small marker chromosome 15 was observed in a female infant with mental and statomotoric retardation as well as minor facial dysmorphia. The marker chromosome was analyzed by ten different staining techniques and 5-azacytidine treatment of lymphocyte cultures. It is shown that the supernumerary ...

journal_title：Clinical genetics

authors： Schmid M,Schindler D,Haaf T

更新日期：1986-07-01 00:00:00

abstract：:In the present paper we report the first example of fertility in a female with isodicentric X-formation and karyotype 45,X/46,X,del(X)(pter----p21.3)/46,X,idic(X)(qter----p21.3::p21.3- ---qter). Her daughter was phenotypically almost normal and presented a 46,X,del(X)(pter----p21.3) karyotype in all examined cells. ...

journal_title：Clinical genetics

authors： Fryns JP,Kleczkowska A,Debucquoy P,van den Berghe H

更新日期：1988-11-01 00:00:00

abstract：:Kidney and urinary tract malformations are among the most frequent developmental defects identified in newborns. Ranging from asymptomatic to neonatal lethal, these malformations represent an important clinical challenge. Recent progress in understanding the developmental origin of urinary tract defects in the mouse a...

journal_title：Clinical genetics

authors： Uetani N,Bouchard M

更新日期：2009-04-01 00:00:00

abstract：:Genetic modifiers of liver disease in cystic fibrosis Bartlett et al. (2009) The Journal of the American Medical Association 302: 1076-1083. ...

journal_title：Clinical genetics

authors： de Haan W

更新日期：2010-05-01 00:00:00

abstract：:Van der Woude syndrome (VWS) is an autosomal dominant disorder manifested in cleft lip and/or palate and lip pits. Isolated clefts of the lip and/or palate (ICLP) have both genotype and phenotype overlap with VWS. Subjects with ICLP have abnormalities in brain structure and function. Given the similarities between VWS...

journal_title：Clinical genetics

authors： Nopoulos P,Richman L,Andreasen NC,Murray JC,Schutte B

更新日期：2007-06-01 00:00:00

abstract：:We report here the clinical, genetic, and molecular characteristics of a large Chinese family exhibiting non-syndromic, late-onset autosomal dominant sensorineural hearing loss. Clinical evaluation revealed variable phenotypes of hearing loss in terms of severity and age-at-onset of disease in these subjects. Genome-w...

journal_title：Clinical genetics

authors： Cheng J,Han DY,Dai P,Sun HJ,Tao R,Sun Q,Yan D,Qin W,Wang HY,Ouyang XM,Yang SZ,Cao JY,Feng GY,Du LL,Zhang YZ,Zhai SQ,Yang WY,Liu XZ,He L,Yuan HJ

更新日期：2007-11-01 00:00:00

abstract：:Hereditary motor and sensory neuropathy type Russe (HMSNR), also called CMT4G, is an autosomal recessive inherited peripheral neuropathy (IPN) caused by a founder mutation in the HK1 gene. HMSNR affects only patients with Roma origin, similar to the better known HMSN type Lom clarified earlier. By testing IPN patients...

journal_title：Clinical genetics

authors： Šafka Brožková D,Haberlová J,Mazanec R,Laštůvková J,Seeman P

更新日期：2016-08-01 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：:A de novo 14/21 Robertsonian translocation and a familially inherited Y/15 translocation were observed in a male infant with anomalies of the external genitalia. The Y/15 translocation was confirmed by cultivating lymphocytes in a medium containing distamycin A and by determining the occurrence of the Y-specific DNA s...

journal_title：Clinical genetics

authors： Schmid M,Schmidtke J,Kruse K,Tolksdorf M

更新日期：1983-10-01 00:00:00

abstract：:Although noninvasive prenatal testing (NIPT) for aneuploidies using cell-free fetal DNA in maternal blood has been reported to have a high accuracy, only little evidence about its cost-effectiveness is available. We systematically reviewed and assessed quality of economic evaluation studies published between January 1...

journal_title：Clinical genetics

authors： Nshimyumukiza L,Menon S,Hina H,Rousseau F,Reinharz D

更新日期：2018-07-01 00:00:00

abstract：:The responsibility to provide accessible, useful genetic counseling to individuals from many cultures and ethnicities arises from the increasing ethnocultural diversity of the populations served, coupled with the ethical goal of providing equal access and quality of services for all individuals. The multicultural educ...

journal_title：Clinical genetics

authors： Weil J

更新日期：2001-03-01 00:00:00

abstract：:To determine the mutations of Southern Chinese with Duchenne and Becker muscular dystrophies (DMD, BMD), we analysed 28 DMD and BMD patients in 24 unrelated families for intragenic deletions and duplications by using cDNA probes covering the entire 14 kb of the dystrophin gene. Deletions were detected in nine unrelate...

journal_title：Clinical genetics

authors： Lau YL,Srivastava G,Wong V,Liu YT,Ho FC,Yeung CY

更新日期：1992-05-01 00:00:00

abstract：:Biallelic mutations in the PLCB1 gene, encoding for a phospholipase C beta isoform strongly expressed in the brain, have been reported to cause infantile epileptic encephalopathy in only four children to date. We report here three additional patients to delineate the phenotypic and genotypic characteristics of the dis...

journal_title：Clinical genetics

authors： Desprairies C,Valence S,Maurey H,Helal SI,Weckhuysen S,Soliman H,Mefford HC,Spentchian M,Héron D,Leguern E,Nava C,Bouilleret V,Moretti R,Mignot C

更新日期：2020-03-01 00:00:00

abstract：:Peeling skin disease (PSD) is an autosomal recessive skin disorder caused by mutations in CDSN and is characterized by superficial peeling of the upper epidermis. Corneodesmosin (CDSN) is a major component of corneodesmosomes that plays an important role in maintaining epidermis integrity. Herein, we report a patient ...

journal_title：Clinical genetics

authors： Wada T,Matsuda Y,Muraoka M,Toma T,Takehara K,Fujimoto M,Yachie A

更新日期：2014-10-01 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：:Pathogenic MAGEL2 variants result in the phenotypes of Chitayat-Hall syndrome (CHS), Schaaf-Yang syndrome (SYS) and Prader-Willi syndrome (PWS). We present five patients with mutations in MAGEL2, including the first patient reported with a missense variant, adding to the limited literature. Further, we performed a sys...

journal_title：Clinical genetics

authors： Patak J,Gilfert J,Byler M,Neerukonda V,Thiffault I,Cross L,Amudhavalli S,Pacio-Miguez M,Palomares-Bralo M,Garcia-Minaur S,Santos-Simarro F,Powis Z,Alcaraz W,Tang S,Jurgens J,Barry B,England E,Engle E,Hess J,Lebel RR

更新日期：2019-12-01 00:00:00

abstract：:Mowat-Wilson syndrome (MWS) is an autosomal dominant developmental disorder with mental retardation and variable multiple congenital abnormalities due to mutations of the ZEB2 (ZFHX1B) gene at 2q22. MWS was first described in 1998 and the causative gene was delineated in 2001. Since then, 115 different mutations of ZE...

journal_title：Clinical genetics

authors： Engenheiro E,Møller RS,Pinto M,Soares G,Nikanorova M,Carreira IM,Ullmann R,Tommerup N,Tümer Z

更新日期：2008-06-01 00:00:00

abstract：:We describe a 2-year-old female patient who had megaloblastic anaemia caused by selective vitamin B12 malabsorption (Imerslund-Grasbeck syndrome) and del(21)(q22). To our knowledge, this is the first observation of Imerslund-Grasbeck syndrome associated with del(21)(q22) in the literature. ...

journal_title：Clinical genetics

authors： Celep F,Karagüzel A,Aynaci FM,Erduran E

更新日期：1996-10-01 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：:A 28-year-old Turner female with secondary amenorrhea is described, who showed 45,X/46,X,del(Xp) mosaicism in her blood lymphocytes and a 46,X,del(Xp) karyotype only in her ovaries. 45,X/46,XX mosaicism was found in the patient's mother, who presented short stature, mild Turner dysmorphism and had a normal reproductiv...

journal_title：Clinical genetics

authors： Verschraegen-Spae MR,Depypere H,Speleman F,Dhondt M,De Paepe A

更新日期：1992-04-01 00:00:00

abstract：:The basic science and development of therapies targeting the blood vascular system has enjoyed much focus due to the knowledge of the molecular mechanisms behind its development and roles in disease. However, the closely associated lymphatic system, while also being responsible for a number of serious and debilitating...

journal_title：Clinical genetics

authors： Kim H,Dumont DJ

更新日期：2003-10-01 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：:Mutations in the genes FBN1, TGFBR1, and TGFBR2 can result in heritable connective tissue disorders comprising the Marfan syndrome and the Loeys-Dietz syndrome. Dural ectasia is a characteristic manifestation of both syndromes. However, dural ectasia has not yet been investigated in connective tissue disorders that ar...

journal_title：Clinical genetics

authors： Sheikhzadeh S,Rybczynski M,Habermann CR,Bernhardt AM,Arslan-Kirchner M,Keyser B,Kaemmerer H,Mir TS,Staebler A,Oezdal N,Robinson PN,Berger J,Meinertz T,von Kodolitsch Y

更新日期：2011-06-01 00:00:00