Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues.

abstract：:Among a series of 98 triploid abortions, there were four specimens with two cells lines. The detection of two clones was by Q-banding of chromosomes. Two of these four specimens were dizygotic twins, the third was either a mosaic or monozygotic twins with loss of a sex chromosome from one twin and the fourth was best ...

journal_title：Clinical genetics

authors： Uchida IA,Freeman VC,Chen PL

更新日期：1985-12-01 00:00:00

abstract：:The 13 subtypes of oral-facial-digital syndrome (OFDS) belong to the heterogeneous group of ciliopathies. Disease-causing genes encode for centrosomal proteins, components of the transition zone or proteins implicated in ciliary signaling. A unique consanguineous family presenting with an unclassified OFDS with skelet...

journal_title：Clinical genetics

authors： Thevenon J,Duplomb L,Phadke S,Eguether T,Saunier A,Avila M,Carmignac V,Bruel AL,St-Onge J,Duffourd Y,Pazour GJ,Franco B,Attie-Bitach T,Masurel-Paulet A,Rivière JB,Cormier-Daire V,Philippe C,Faivre L,Thauvin-Robinet C

更新日期：2016-12-01 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：:Basic knowledge of genetics is essential for understanding genetic testing and counseling. The lack of a written, English language, validated, published measure has limited our ability to evaluate genetic knowledge of patients and families. Here, we begin the psychometric analysis of a true/false genetic knowledge mea...

journal_title：Clinical genetics

authors： Fitzgerald-Butt SM,Bodine A,Fry KM,Ash J,Zaidi AN,Garg V,Gerhardt CA,McBride KL

更新日期：2016-02-01 00:00:00

abstract：:Germline mutations of the STK11 gene mapped to chromosome 19p13.3 are responsible for Peutz Jeghers syndrome (PJS), a dominant disorder associated with characteristic gastrointestinal hamartomatous polyps and a predisposition to various cancers. We conducted a detailed investigation of germline STK11 alterations by pr...

journal_title：Clinical genetics

authors： Jiang CY,Esufali S,Berk T,Gallinger S,Cohen Z,Tobi M,Redston M,Bapat B

更新日期：1999-08-01 00:00:00

abstract：:Mutations in the insulin receptor gene have been reported in cases of type A insulin resistance. We report herein two cases of type A insulin resistance, which involve some novel mutations. Case 1 is a heterozygote of the C253Y missense mutation and case 2 is a heterozygote of the Y864X nonsense mutation. In the C253Y...

journal_title：Clinical genetics

authors： Osawa H,Nishimiya T,Ochi M,Niiya T,Onuma H,Kitamuro F,Kaino Y,Kida K,Makino H

更新日期：2001-03-01 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：:An isodicentric X-chromosome idic(X) (pter----q26.1::q26.1----pter) was found in lymphocytes and ovarian tissue of a 40-year-old female patient with secondary amenorrhea. No mosaicism was observed. The phenotype-karyotype correlation of our case and of previously described non-mosaic cases of idic(X) (q::q) with diffe...

journal_title：Clinical genetics

authors： Ponzio G,Chiodo F,Messina M,Surico N,Libanori E,Folpini E,Porcelli A,Marchese C

更新日期：1987-07-01 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：:Glycogenosis type II (Pompe's disease) has been diagnosed using cultured amniotic cells for several years. In this paper, we present three prenatal diagnoses based on chorionic villi biopsy in three families at risk for Pompe's disease juvenile form: a normal fetus that was diagnosed and confirmed by enzymatic assay o...

journal_title：Clinical genetics

authors： Besançon AM,Castelnau L,Nicolesco H,Dumez Y,Poenaru L

更新日期：1985-05-01 00:00:00

abstract：:The ability of statins to strongly reduce low-density lipoprotein cholesterol (LDL-C) varies interindividually and is partially influenced by genetic variants. Based on a comprehensive analysis of 23 single nucleotide polymorphisms (SNPs) known to be associated with pharmacokinetics and dynamics of statins, we develop...

journal_title：Clinical genetics

authors： Ciuculete DM,Bandstein M,Benedict C,Waeber G,Vollenweider P,Lind L,Schiöth HB,Mwinyi J

更新日期：2017-03-01 00:00:00

abstract：:The roles of genetic polymorphisms in the pathogenesis of recurrent miscarriage (RM) have been intensively studied. However, the results of these studies were inconsistent, especially when conducted in different populations. Therefore, we performed the current study to systematically review the broad spectrum of genet...

journal_title：Clinical genetics

authors： Shi X,Xie X,Jia Y,Li S

更新日期：2017-02-01 00:00:00

abstract：:Genetic heterogeneity has made the identification of genes related to hearing impairment a challenge. In the absence of a clear phenotypic aetiology, recurrence risk estimates are often based on family segregation and may be imprecise. We profiled by oligonucleotide array-CGH patients presenting non-syndromic hearing ...

journal_title：Clinical genetics

authors： Rosenberg C,Freitas ÉL,Uehara DT,Auricchio MTBM,Costa SS,Oiticica J,Silva AG,Krepischi AC,Mingroni-Netto RC

更新日期：2016-04-01 00:00:00

abstract：:Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) (BRWS; MIM #243310, 614583) is a rare developmental disorder affecting multiple organ systems. It is characterised by intellectual disability (mild to severe) and distinctive facial appearance (metopic ridging/trigonocephaly, bilateral ptosis, hypertelorism). The a...

journal_title：Clinical genetics

authors： Yates TM,Turner CL,Firth HV,Berg J,Pilz DT

更新日期：2017-07-01 00:00:00

abstract：:This study explored the role of TCOF1 insertion mutations in Taiwanese patients with craniofacial anomalies. Twelve patients with single or multiple, asymmetrical congenital craniofacial anomalies were enrolled. Genomic DNA was prepared from leukocytes; the coding regions of TCOF1 were analyzed by polymerase chain rea...

journal_title：Clinical genetics

authors： Su PH,Liu YF,Yu JS,Chen JY,Chen SJ,Lai YJ

更新日期：2012-11-01 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：: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：:Prenatal diagnosis in a pregnancy at risk for Becker muscular dystrophy is reported. The diagnosis was made prior to 12 weeks of gestation by typing a CVS sample for DNA markers. ...

journal_title：Clinical genetics

authors： Wood S,Shukin RJ,Yong SL,Wilson D,Kalousek D,Chudley A

更新日期：1987-01-01 00:00:00

abstract：:Sudden cardiac death (SCD) has an enormous impact on those who are left behind, evoking strong feelings of anxiety and incomprehension because such a dramatic event was not anticipated. Moreover, over the last decade a prominent genetic contribution to the pathogenesis of SCD has been unveiled. As many inherited cardi...

journal_title：Clinical genetics

authors： Saenen JB,Van Craenenbroeck EM,Proost D,Marchau F,Van Laer L,Vrints CJ,Loeys BL

更新日期：2015-08-01 00:00:00

abstract：:The Marden-Walker syndrome is characterized by psychomotor retardation, a mask-like face with blepharophimosis, micrognathia and a high-arched or cleft palate, low-set ears, kyphoscoliosis and joint contractures. We report on a male patient with the clinical features of the syndrome. In addition, he had a Dandy-Walker...

journal_title：Clinical genetics

authors： Schrander-Stumpel C,de Die-Smulders C,de Krom M,Schyns-Fleuran S,Hamel B,Jaeken D,Fryns JP

更新日期：1993-06-01 00:00:00

abstract：:Lynch syndrome is caused by germline mutations in the mismatch repair genes MLH1, MSH2, MSH6 or PMS2. The novel MSH2 c.[2635-3T>C; 2635-5C>T] mutation was identified in 4 Lynch families, cosegregating with the disease. This mutation, located in intron 15, was predicted to alter the correct mRNA processing by in silico...

journal_title：Clinical genetics

authors： Menéndez M,Castellví-Bel S,Pineda M,de Cid R,Muñoz J,González S,Teulé A,Balaguer F,Ramón y Cajal T,Reñé JM,Blanco I,Castells A,Capellà G

更新日期：2010-08-01 00:00:00

abstract：:436 index patients with major congenital urinary tract malformations, 385 with upper and 51 with lower urinary tract anomalies, were studied. A significant male sex predominance was noted in each group. No apparent correlation was found between parental age, birth order, birth weight and incidence of these malformatio...

journal_title：Clinical genetics

authors： Bois E,Feingold J,Benmaiz H,Briard ML

更新日期：1975-07-01 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：:Alzheimer's Disease (AD) is a devastating disease that affects millions of elderly persons. Despite years of intense investigations, genetic risk factors that affect the majority of AD cases have yet to be determined. Recent studies suggest that cholesterol metabolism has integral part in AD pathogenesis, suggesting t...

journal_title：Clinical genetics

authors： Wellington CL

更新日期：2004-07-01 00:00:00

abstract：:In an ethnically-homogeneous population, it is valuable to identify founder mutations in cancer-predisposing genes. Founder mutations have been found in four breast-cancer-predisposing genes in French-Canadian breast cancer families. The frequencies of the mutant alleles have been measured neither in a large series of...

journal_title：Clinical genetics

authors： Ghadirian P,Robidoux A,Zhang P,Royer R,Akbari M,Zhang S,Fafard E,Costa M,Martin G,Potvin C,Patocskai E,Larouche N,Younan R,Nassif E,Giroux S,Narod SA,Rousseau F,Foulkes WD

更新日期：2009-11-01 00:00:00

abstract：:More than 80% of the first degree relatives of 106 patients with iron overload - 97 with idiopathic haemochromatosis (I.H.) and nine with haemosiderosis secondary to alcohol induced liver disease (A.H. - were examined. Physical examination and measurement of plasma iron level and UIBC were done in all subjects; relati...

journal_title：Clinical genetics

authors： Simon M,Alexandre JL,Bourel M,Le Marec B,Scordia C

更新日期：1977-05-01 00:00:00

abstract：:Whole-exome sequencing (WES) has transformed our ability to detect mutations causing rare diseases. FORGE (Finding Of Rare disease GEnes) and Care4Rare Canada are nation-wide projects focused on identifying disease genes using WES and translating this technology to patient care. Rare forms of epilepsy are well-suited ...

journal_title：Clinical genetics

authors： Dyment DA,Tétreault M,Beaulieu CL,Hartley T,Ferreira P,Chardon JW,Marcadier J,Sawyer SL,Mosca SJ,Innes AM,Parboosingh JS,Bulman DE,Schwartzentruber J,Majewski J,Tarnopolsky M,Boycott KM,FORGE Canada Consortium.,Care4Rar

更新日期：2015-07-01 00:00:00

abstract：:A study of the family of a patient who had an SLE-like syndrome and an extremely low serum C4 revealed an inheritance of C4 types and HLA region markers which indicated that the patient had 60--70% of "normal" C4 level prior to the onset of disease. Thus the extremely low C4 level during her disease may result from a ...

journal_title：Clinical genetics

authors： Cream JJ,Olaisen B,Teisberg P,Soler AV,Thompson RA

更新日期：1979-11-01 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：:We provide data on fetal growth pattern on the molecular subtypes of Beckwith-Wiedemann syndrome (BWS): IC1 gain of methylation (IC1-GoM), IC2 loss of methylation (IC2-LoM), 11p15.5 paternal uniparental disomy (UPD), and CDKN1C mutation. In this observational study, gestational ages and neonatal growth parameters of 2...

journal_title：Clinical genetics

authors： Mussa A,Russo S,de Crescenzo A,Freschi A,Calzari L,Maitz S,Macchiaiolo M,Molinatto C,Baldassarre G,Mariani M,Tarani L,Bedeschi MF,Milani D,Melis D,Bartuli A,Cubellis MV,Selicorni A,Silengo MC,Larizza L,Riccio A,Fe

更新日期：2016-07-01 00:00:00