Two novel mutations in the alpha-galactosidase A gene in Chinese patients with Fabry disease.

abstract：:The locus DXS255 was studied using the probe M27 beta in ten probands with Rett syndrome and in eight of their families. No evidence of uniparental disomy of the X chromosome was detected, as all informative probands had inherited an allele from each of their parents. Differential methylation of a CCGG site within the...

journal_title：Clinical genetics

authors： Webb T,Watkiss E,Woods CG

更新日期：1993-11-01 00:00:00

abstract：:A sequencing protocol for the acid beta-glucosidase (GCase) gene (GBA) was developed using a long-range PCR template. This protocol has an advantage of greater DNA yields over similar strategies. Seven Gaucher's disease patients had four novel and five other rare alleles. A non-pseudogene in-frame deletion (g.2600-260...

journal_title：Clinical genetics

authors： Zhao H,Keddache M,Bailey L,Arnold G,Grabowski G

更新日期：2003-07-01 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：: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：:We report studies on two patients (a mother and her daughter) presenting with a Charcot-Marie-Tooth type 1 (CMT1) phenotype: low nerve conduction velocities of 13-15 m/s and an early onset at the age of walking. DNA analysis of the gene coding for the major peripheral myelin protein PO showed a new point mutation in e...

journal_title：Clinical genetics

authors： Blanquet-Grossard F,Pham-Dinh D,Dautigny A,Latour P,Bonnebouche C,Corbillon E,Chazot G,Vandenberghe A

更新日期：1995-12-01 00:00:00

abstract：:Pallister Killian syndrome (PKS) is the most frequent form of partial autosomal tetrasomy 12p in humans. Sufferers have a mosaic of isochromosome 12p [i(12p)]. We report the first pre-natal diagnosis on fetal blood cells after cordocentesis during the second trimester. The extra chromosome was first diagnosed by in si...

journal_title：Clinical genetics

authors： Chiesa J,Hoffet M,Rousseau O,Bourgeois JM,Sarda P,Mares P,Bureau JP

更新日期：1998-10-01 00:00:00

abstract：:Only 47 of 61 (77%) medical students were selected as sperm donors for artificial insemination. Fourteen were excluded because of family history 1, eye disorders 7, oligospermia 5, permanent structural chromosome aberration 1. ...

journal_title：Clinical genetics

authors： Czeizel A,Szentesi I,Horváth L

更新日期：1983-08-01 00:00:00

abstract：:An African American male of West Indies descent was diagnosed to have elevated transferrin saturation, hyperferritinemia, severe iron deposition in hepatocytes, and hepatic cirrhosis at age 4. He was treated with serial phlebotomy to maintain a normal serum ferritin concentration thereafter. We evaluated him at age 23...

journal_title：Clinical genetics

authors： Murugan RC,Lee PL,Kalavar MR,Barton JC

更新日期：2008-07-01 00:00:00

abstract：:Ectodermal dysplasias are a group of genetic disorders defined by ectodermal derivative impairment (EDI). To test the impact of the Wnt/beta-catenin pathway in the genetic screening of EDI, we performed a molecular gene study of WNT10A in 60 subjects from a population of 133 young Italian patients referred for the imp...

journal_title：Clinical genetics

authors： Guazzarotti L,Tadini G,Mancini GE,Sani I,Pisanelli S,Galderisi F,D'Auria E,Secondi R,Bottero A,Zuccotti GV

更新日期：2018-03-01 00:00:00

abstract：:It is well known that founder mutations associated with cancer risk have useful implications for molecular diagnostics. We report the presence of a founder mutation in EPCAM involved in the etiology of Lynch syndrome (LS). The mutation extends nearly 8.7 kb (c.858 + 2478_*4507del) and is shared by 8 Polish families. F...

journal_title：Clinical genetics

authors： Dymerska D,Gołębiewska K,Kuświk M,Rudnicka H,Scott RJ,Billings R,Pławski A,Boruń P,Siołek M,Kozak-Klonowska B,Szwiec M,Kilar E,Huzarski T,Byrski T,Lubiński J,Kurzawski G

更新日期：2017-12-01 00:00:00

abstract：:The genetic underpinnings of recessively inherited moderate to severe sensorineural hearing loss are not well understood, despite its higher prevalence in comparison to profound deafness. We recruited 92 consanguineous families segregating stable or progressive, recessively inherited moderate or severe hearing loss. W...

journal_title：Clinical genetics

authors： Naz S,Imtiaz A,Mujtaba G,Maqsood A,Bashir R,Bukhari I,Khan MR,Ramzan M,Fatima A,Rehman AU,Iqbal M,Chaudhry T,Lund M,Brewer CC,Morell RJ,Friedman TB

更新日期：2017-04-01 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：:There are at least nine major cancer susceptibility syndromes that infer an increased risk for colorectal cancer and/or colorectal polyposis; hereditary nonpolyposis colorectal cancer syndrome, Muir-Torre syndrome, Turcot syndrome, the I1307K polymorphism of the APC gene, familial adenomatous polyposis, attenuated fam...

journal_title：Clinical genetics

authors： Hampel H,Peltomaki P

更新日期：2000-08-01 00:00:00

abstract：:A report is made on a rare isodicentric chromosome 18 in an abnormal male infant whose karyotype was 46,XY,idic(18)(p11.31----qter), confirmed by in situ hybridization using non-radioactive biotin-labelled 18 probe. His clinical features were similar to 18 trisomy syndrome. The literature concerning isochromosome 18 i...

journal_title：Clinical genetics

authors： Meguid NA,Habibian R

更新日期：1992-05-01 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：:We describe the neurological evaluation and MRI analysis of 30 patients, belonging to 16 families with Usher syndrome (US) type I and type II (US1 and US2). In addition to the classic visual and audiological abnormalities seen in these patients, we observed abnormal gait in 88.9% of US1 and in 66.7% of US2 patients an...

journal_title：Clinical genetics

authors： Tamayo ML,Maldonado C,Plaza SL,Alvira GM,Tamayo GE,Zambrano M,Frias JL,Bernal JE

更新日期：1996-09-01 00:00:00

abstract：:Smoking behaviour is influenced by both genetic and environmental factors. Many years of twin and adoption studies have demonstrated that heritability is at least 50% responsible for both smoking initiation and smoking persistence. Furthermore, the extent, to which genetic and environmental factors contribute to smoki...

journal_title：Clinical genetics

authors： Li MD,Ma JZ,Beuten J

更新日期：2004-11-01 00:00:00

abstract：:Lipoprotein(a) [Lp(a)] is an important genetic trait associated with cardiovascular disease. While Lp(a) levels have been demonstrated to be approximately twice as high in black adults and children compared with whites, this relationship has not been assessed in the elderly. During the 1987 recall of the Charleston He...

journal_title：Clinical genetics

authors： Knapp RG,Schreiner PJ,Sutherland SE,Keil JE,Gilbert GE,Klein RL,Hames C,Tyroler HA

更新日期：1993-11-01 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：: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：:A new modification of currently utilized methods of processing cell cultures of whole peripheral blood for obtaining chromosome preparations necessary for differential staining (Q, G and C) is proposed. After the usual hypotonic treatment of cultures, a 3%-5% aquaeous solution of glacial acetic acid is added to the ce...

journal_title：Clinical genetics

authors： Ibraimov AI

更新日期：1983-10-01 00:00:00

abstract：:The potential causes for the incomplete penetrance of Pelizaeus-Merzbacher disease (PMD) in female carriers of PLP1 mutations are not well understood. We present a family with a boy having PMD in association with PLP1 duplication and three females who are apparent manifesting carriers. Custom high-resolution oligonucl...

journal_title：Clinical genetics

authors： Carvalho CM,Bartnik M,Pehlivan D,Fang P,Shen J,Lupski JR

更新日期：2012-06-01 00:00:00

abstract：:Genetic counseling and DNA testing (GCT) for breast cancer is increasingly being actively offered to newly diagnosed patients. Little is known about the consequences of such an approach. Therefore, the long-term psychosocial and medical impact of referring breast cancer patients for GCT during an early phase of treatm...

journal_title：Clinical genetics

authors： Baars JE,Bleiker EM,van Riel E,Rodenhuis CC,Velthuizen ME,Schlich KJ,Ausems MG

更新日期：2014-06-01 00:00:00

abstract：:Hypotrichosis is a human hereditary hair loss disorder in which affected individuals show sparse to complete absence of hair on scalp and/or on different body parts. To date, at least eight isolated autosomal recessive and dominant forms of hypotrichosis loci have been mapped on different human chromosomes, and the co...

journal_title：Clinical genetics

authors： Basit S,Wali A,Aziz A,Muhammad N,Jelani M,Ahmad W

更新日期：2011-03-01 00:00:00

abstract：:Poland anomaly and facio-auriculo-vertebral dysplasia are considered to be separate entities. We describe a 3-year-old boy with features of both Poland anomaly and facio-auriculo-vertebral dysplasia. This is the first report, to our knowledge, of this combination of birth defects. Possible pathogenetic implications ar...

journal_title：Clinical genetics

authors： Cobben JM,van Essen AJ,McParland PC,Polman HA,ten Kate LP

更新日期：1992-02-01 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：:Glucose-galactose malabsorption (GGM) is an autosomal recessive disease with life-threatening newborn diarrhea caused by mutations in the Na(+) /glucose cotransporter gene SLC5A1. Because of its rarity, the clinical course of the disease has not been well studied. Here, we report 33 patients with GGM from a large Old ...

journal_title：Clinical genetics

authors： Xin B,Wang H

更新日期：2011-01-01 00:00:00

abstract：:We have conducted a study to assess the opinions of parents of individuals with mucopolysaccharidoses (MPS) and adults with MPS regarding newborn screening (NBS) for this condition, as testing is now technically possible. A questionnaire including a number of hypothetical clinical scenarios about NBS for MPS was distr...

journal_title：Clinical genetics

authors： Hayes IM,Collins V,Sahhar M,Wraith JE,Delatycki MB

更新日期：2007-05-01 00:00:00

abstract：:The reliable evaluation of chromosomal mosaics is still considered to be difficult in clinical diagnosis if aberrant metaphases are only present at low frequencies. Classical cytogenetic findings cannot significantly exclude low mosaic levels, obviously, because of the relatively low number of analyzed metaphases. To ...

journal_title：Clinical genetics

authors： Schliephacke M,Maier CI,Majlinger G,Tomiuk J,Leipoldt M,Kaiser P

更新日期：1996-08-01 00:00:00

abstract：:The effect of the C677T polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene, traditionally associated with ischaemic heart disease (IHD), was assessed in a Spanish population. The transmission disequilibrium test (TDT) was used to determine a possible association in a sample of 101 trios of IHD patien...

journal_title：Clinical genetics

authors： González-Pérez E,Via M,López-Alomar A,Esteban E,Valveny N,Bao M,Domingo E,Moral P

更新日期：2002-09-01 00:00:00