Central nervous system abnormalities--contrasting patterns in early and late pregnancy.

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

abstract：:This paper reports on an investigation into the differences in image quality of different components used in a digital image processing system for chromosome analysis. As chromosome aberrations are important tools in the cloning of genes, it is important to know if the introduction of computerized analysis systems inc...

journal_title：Clinical genetics

authors： Nivall S,Holmquist D,Gustavsson T,Wahlström J

更新日期：1995-11-01 00:00:00

abstract：:We report on two families in which one or two children had a severe disorder of skeletal development detected by prenatal ultrasonography. The children died postnatally and showed typical radiological and biochemical findings of perinatal hypophosphatasia. Biochemical analysis revealed a low activity of alkaline phosp...

journal_title：Clinical genetics

authors： Gehring B,Mornet E,Plath H,Hansmann M,Bartmann P,Brenner RE

更新日期：1999-10-01 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：: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：: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：:We describe 2 patients with Angelman syndrome (AS) due to paternal uniparental disomy (UPD). One patient is a female aged 30 years and the other a male aged 4 1/2 years. Both have the characteristic wide mouth and big chin, moderate mental retardation, virtually no speech but some 30 words of sign language and a happy...

journal_title：Clinical genetics

authors： Smith A,Robson L,Buchholz B

更新日期：1998-03-01 00:00:00

abstract：:Cystic fibrosis (CF) is considered as a rare disease in black Africans. In fact, this disease is likely to be underestimated since clinical features consistent with CF diagnosis are often ascribed to environmental factors such as malnutrition. Very little is known about CFTR mutations in affected patients from Central...

journal_title：Clinical genetics

authors： Feuillet-Fieux MN,Ferrec M,Gigarel N,Thuillier L,Sermet I,Steffann J,Lenoir G,Bonnefont JP

更新日期：2004-04-01 00:00:00

abstract：:This paper reports on the presentations from the second session of a 2-day workshop on genetic diversity and science communication, organized by the Institute of Genetics. The four talks in this session (by Sarah Cunningham-Burley, Gail Geller, Michael Hayden, and Theresa Marteau) focused on the topic of risk assessme...

journal_title：Clinical genetics

authors： Cox SM

更新日期：2006-11-01 00:00:00

abstract：:RUNX2 (Runt-related transcription factor 2) is a master regulator of osteoblast differentiation, cartilage and bone development. Pathogenic variants in RUNX2 have been linked to the Cleidocranial dysplasia (CCD), which is characterized by hypoplasia or aplasia of clavicles, delayed fontanelle closure, and dental anoma...

journal_title：Clinical genetics

authors： Hordyjewska-Kowalczyk E,Sowińska-Seidler A,Olech EM,Socha M,Glazar R,Kruczek A,Latos-Bieleńska A,Tylzanowski P,Jamsheer A

更新日期：2019-11-01 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：:The contribution of fetal and maternal genes to the variation in birth weight was estimated in a sample of 5,625 grandchildren of monozygotic and dizygotic twins. Fetal and maternal genetic effects were separated by comparing the covariance structure for offspring of daughters of twins with that for offspring of sons ...

journal_title：Clinical genetics

authors： Magnus P

更新日期：1984-10-01 00:00:00

abstract：:Four independently ascertained children who presented with unusual facies and delayed mental and physical development were found to have a similar deletion of part of the long arm of chromosome 7 (46,XX or XY, del(7)(q32); 46,XX or XY,del(7)(pter leads to q32:)). Comparison of the findings of these four cases with one...

journal_title：Clinical genetics

authors： Harris EL,Wappner RS,Palmer CG,Hall B,Dinno N,Seashore MR,Breg WR

更新日期：1977-10-01 00:00:00

abstract：:The presence of Y chromosome sequences in Turner syndrome (TS) patients may predispose them to gonadoblastoma formation with an estimated risk of 15-25%. The aim of this study was to determine the presence and the incidence of cryptic Y chromosome material in the genome of TS patients. The methodology involved a combi...

journal_title：Clinical genetics

authors： Patsalis PC,Sismani C,Hadjimarcou MI,Kitsiou-Tzeli S,Tzezou A,Hadjiathanasiou CG,Velissariou V,Lymberatou E,Moschonas NK,Skordis N

更新日期：1998-04-01 00:00:00

abstract：:Neurofibromatosis 2 (NF2) is caused by mutations in the NF2 gene predisposing carriers to develop nervous system tumours. Different NF2 mutations result in either loss/reduced protein function or gain of protein function (abnormally behaving mutant allele i.e. truncated protein potentially causing dominant negative ef...

journal_title：Clinical genetics

authors： Selvanathan SK,Shenton A,Ferner R,Wallace AJ,Huson SM,Ramsden RT,Evans DG

更新日期：2010-02-01 00:00:00

abstract：:Two patients with trisomy for 18p and the proximal segment of 18q (trisomy 18q-) are reported and compared with similar cases from the literature. The phenotype of trisomy 18q- resembles that of full trisomy 18 but differs mainly in the birdlike face, small mouth, more pronounced microretrognathia, minor skeletal dysp...

journal_title：Clinical genetics

authors： Turleau C,Chavin-Colin F,Narbouton R,Asensi D,de Grouchy J

更新日期：1980-07-01 00:00:00

abstract：:Mediastinal vascular rings cause tracheoesophageal obstruction, resulting in respiratory symptoms and dysphagia in children. Although a large number of children with Rubinstein-Taybi syndrome have frequent respiratory infections and feeding difficulties, there has been no firmly established association between this sy...

journal_title：Clinical genetics

authors： Shashi V,Fryburg JS

更新日期：1995-12-01 00:00:00

abstract：:The mitochondrial 1555A>G mutation is one of the most common mutations responsible for hearing loss in Asians. Although the association with aminoglycoside exposure is well known, there is great variation in the severity of hearing loss. We analyzed hearing levels in 221 Japanese individuals with this mutation and att...

journal_title：Clinical genetics

authors： Lu SY,Nishio S,Tsukada K,Oguchi T,Kobayashi K,Abe S,Usami S

更新日期：2009-05-01 00:00:00

abstract：:A family with three children with Waardenburg syndrome born to normal, unrelated parents is reported. This appears to be the first report suggesting germ-line mosaicism in Waardenburg syndrome. ...

journal_title：Clinical genetics

authors： Kapur S,Karam S

更新日期：1991-03-01 00:00:00

abstract：:The ability or inability to taste the compound phenylthiocarbamide (PTC) is a classic inherited trait in humans and has been the subject of genetic and anthropological studies for over 70 years. This trait has also been shown to correlate with a number of dietary preferences and thus may have important implications fo...

journal_title：Clinical genetics

authors： Kim UK,Drayna D

更新日期：2005-04-01 00:00:00

abstract：:We have previously described four DNaseI hypersensitive sites (DH 1 to DH4) in the 40-kb intergenic region between the plasminogen gene and the apo(a) gene. Here, we wanted to analyse whether any of these sites, located 4, 21, 28 and 34 kb upstream of the apo(a) transcriptional start site, would act as an enhancer on ...

journal_title：Clinical genetics

authors： Acquati F,Rönicke V,Taramelli R,Müller HJ

更新日期：1997-11-01 00:00:00

abstract：:Galactokinase deficient fibroblasts are not distinguishable from galactosemic fibroblasts by a test suggested earlier by Hill & Puck (1973). They can be so distinguished by the test described here, since they are unable to incorporate radioactive galactose into TCA-insoluble material under normal conditions of incubat...

journal_title：Clinical genetics

authors： Hill HZ

更新日期：1975-09-01 00:00:00

abstract：:It is often thought that the incidence of genetic disease is rising, because improved medical care is increasing the survival, and therefore the cumulative number of affected people. This examination of the genetic implications of recent demographic change in Europe suggests that the incidence of genetic disease is in...

journal_title：Clinical genetics

authors： Modell B,Kuliev AM

更新日期：1989-11-01 00:00:00

abstract：:The deletions of 4.4 and 3.2 kb identified in exons 24 and 20, respectively, are two of the four most common mutations in the BRCA1 gene in Greek breast cancer patients. They have been reported previously six and three times, respectively, in unrelated Greek families. A total of 11 more families have been identified i...

journal_title：Clinical genetics

authors： Pertesi M,Konstantopoulou I,Yannoukakos D

更新日期：2011-10-01 00:00:00

abstract：:The locus for a type of an autosomal recessive non-syndromic deafness (ARND), DFNB13, was previously mapped to a 17-cm interval of chromosome 7q34-36. We identified two consanguineous Tunisian families with severe to profound ARND. Linkage analyses with microsatellites surrounding the previously identified loci detect...

journal_title：Clinical genetics

authors： Masmoudi S,Charfedine I,Rebeh IB,Rebai A,Tlili A,Ghorbel AM,Belguith H,Petit C,Drira M,Ayadi H

更新日期：2004-10-01 00:00:00

abstract：:Peptidase A (Pep A) activity assigned to chromosome 18q23 was biochemically examined in fibroblasts cultured from two patients with trisomy 18 and in fibroblasts derived from normal individuals. The trisomy 18 fibroblasts showed approximately a 1.5-fold increase in Pep A activity over that of the control fibroblasts. ...

journal_title：Clinical genetics

authors： Namba M,Nakatsuka S,Etoh H,Kataoka N,Kimoto T

更新日期：1988-09-01 00:00:00

abstract：:Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder caused by reduced activity of 7-dehydrocholesterol (7DHC) reductase, resulting in a decreased level of cholesterol and increased concentrations of 7DHC and 8DHC in body fluids and tissues. Ten pregnancies at 25% risk of SLOS underwent prenatal testin...

journal_title：Clinical genetics

authors： Jezela-Stanek A,Małunowicz EM,Ciara E,Popowska E,Goryluk-Kozakiewicz B,Spodar K,Czerwiecka M,Jezuita J,Nowaczyk MJ,Krajewska-Walasek M

更新日期：2006-01-01 00:00:00

abstract：:Low density lipoprotein (LDL) receptor activity, measured as 125I-LDL association and degradation at 37 degrees C, was determined in cultured fibroblasts from involved as well as uninvolved skin obtained from 20 psoriasis patients. The same analyses were conducted in fibroblasts from two reference groups consisting of...

journal_title：Clinical genetics

authors： Leren TP,Maartmann-Moe K,Thune P,Berg K

更新日期：1984-03-01 00:00:00

abstract：:Hepatic manifestations of tuberous sclerosis complex: a genotypic and phenotypic analysis. A retrospective review of the clinical records and radiological images of 205 patients with tuberous sclerosis complex (TSC) was performed to evaluate the prevalence and progression of hepatic lesions; examine the association of...

journal_title：Clinical genetics

authors： Black ME,Hedgire SS,Camposano S,Paul E,Harisinghani M,Thiele EA

更新日期：2012-12-01 00:00:00

abstract：:Clinical descriptions of individuals with partial deletion of the distal short arm of chromosome three have been reported rarely. A characteristic phenotype has been proposed. We present another patient with this cytogenetic abnormality whose physical and developmental features show similarities with, as well as diffe...

journal_title：Clinical genetics

authors： Witt DR,Biedermann B,Hall JG

更新日期：1985-04-01 00:00:00