Ring chromosome 22 and neurofibromatosis.

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：:Renal angiomyolipomas were present in 23 out of a series of 38 patients with proven tuberous sclerosis (60.5%). Multiplicity and bilateral localization of combined renal angiomyolipomas were important differences between this category and the isolated, usually solitary, angiomyolipomas. One of the parents of a patient...

journal_title：Clinical genetics

authors： van Baal JG,Fleury P,Brummelkamp WH

更新日期：1989-03-01 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：:In the McCune-Albright syndrome, fibrous dysplasia of bones and various forms of endocrine dysfunction are associated with multiple pigmented skin lesions. Examination of a 4-year-old female patient and comparison with photographs published in the literature revealed that the cutaneous pigmentation is arranged in a sy...

journal_title：Clinical genetics

authors： Happle R

更新日期：1986-04-01 00:00:00

abstract：:This report describes a family in which two different types of acrocephalosyndactyly (ACS) were clinically identified. The proband presented with the classic stigmata of Pfeiffer syndrome, while her cousin was considered to be a typical case of Apert syndrome. Seven other family members also have unusually shaped head...

journal_title：Clinical genetics

authors： Escobar V,Bixler D

更新日期：1977-09-01 00:00:00

abstract：:Lymphoblastoid cell lines have been established from nine female patients with Duchenne muscular dystrophy who had previously been reported to have chromosome translocations with breakpoints in the Xp21 region. A detailed cytogenetic comparison of prometaphase chromosomes in these cell lines revealed that six of the t...

journal_title：Clinical genetics

authors： Boyd Y,Buckle VJ

更新日期：1986-02-01 00:00:00

abstract：:The significance of variation within the genes coding for three glucose transporter proteins in the aetiology of non-insulin dependent diabetes mellitus was assessed by analysing restriction fragment length polymorphisms in an English Caucasian population. Two polymorphisms at the HepG2/erythrocyte glucose transporter...

journal_title：Clinical genetics

authors： Oelbaum RS

更新日期：1992-11-01 00:00:00

abstract：:Important insights in the process of genetic counseling can be provided by establishing levels of satisfaction. The aim of our study was to compare counselees' and counselors' satisfaction with the initial consultation in reproductive genetic counseling and to gain insight into the factors associated with their conten...

journal_title：Clinical genetics

authors： Aalfs CM,Oort FJ,de Haes JC,Leschot NJ,Smets EM

更新日期：2007-08-01 00:00:00

abstract：:The aim of this work was to determine the impact of parental consanguinity on congenital malformations in a mixed urban and rural Arab community in Jerusalem, Israel. Arab mothers admitted to four hospitals in west Jerusalem were interviewed after delivery. Demographic and obstetric data were recorded. Neonatal data w...

journal_title：Clinical genetics

authors： Bromiker R,Glam-Baruch M,Gofin R,Hammerman C,Amitai Y

更新日期：2004-07-01 00:00:00

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：: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：:Oculoectodermal syndrome (OES) and encephalocraniocutaneous lipomatosis (ECCL) are rare disorders that share many common features, such as epibulbar dermoids, aplasia cutis congenita, pigmentary changes following Blaschko lines, bony tumor-like lesions, and others. About 20 cases with OES and more than 50 patients wit...

journal_title：Clinical genetics

authors： Boppudi S,Bögershausen N,Hove HB,Percin EF,Aslan D,Dvorsky R,Kayhan G,Li Y,Cursiefen C,Tantcheva-Poor I,Toft PB,Bartsch O,Lissewski C,Wieland I,Jakubiczka S,Wollnik B,Ahmadian MR,Heindl LM,Zenker M

更新日期：2016-10-01 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：:A 6-year-old boy presented with recurrent coma associated with hyperammonemia and infection is reported. A liver biopsy revealed decreased ornithine transcarbamylase (OTC) activity (16% of normal). The enzymatic abnormality in the child is supported by the finding of elevated orotic acid excretion in his mother follow...

journal_title：Clinical genetics

authors： Oizumi J,Ng WG,Koch R,Shaw KN,Sweetman L,Velazquez A,Donnell GN

更新日期：1984-06-01 00:00:00

abstract：:Whole exome sequencing and chromosomal microarrays are two powerful technologies that have transformed the ability of researchers to search for potentially causal variants in human disease. This study combines these tools to search for causal variants in a patient found to have maternal uniparental isodisomy of chromo...

journal_title：Clinical genetics

authors： Carmichael H,Shen Y,Nguyen TT,Hirschhorn JN,Dauber A

更新日期：2013-09-01 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：:Over the past few years, we have conducted a systematic study of 230 cystic fibrosis (CF) chromosomes in the Saguenay Lac-Saint-Jean (SLSJ) population which has a high CF incidence (1/936 live births). We identified 11 mutations accounting for 100% of the CF chromosomes found in patients born in SLSJ. Our results indi...

journal_title：Clinical genetics

authors： De Braekeleer M,Mari C,Verlingue C,Allard C,Leblanc JP,Simard F,Aubin G,Férec C

更新日期：1998-01-01 00:00:00

abstract：:In a country-wide screening examination in Sweden, PKU was observed in 75 (4.5 per 1,000) and hyperphenylalaninemia in 14 (0.8 per 1,000) of a total of 16,805 patients in institutions for the mentally retarded. In the national neonatal screening program in 1965-1975, which covered nearly 1 million individuals, PKU was...

journal_title：Clinical genetics

authors： Holmgren G,Larsson A,Palmstierna H,Alm J

更新日期：1976-12-01 00:00:00

abstract：:Clinical evaluation of a 13 1/2-year-old male revealed a 4.4-cm leg length discrepancy and a small penis with a normal endocrine evaluation. Cytogenetic analysis of peripheral blood lymphocytes and skin fibroblasts derived from the back showed 45,X/46,XY mosaicism with similar percentages of 45,X cells, 36% and 30% re...

journal_title：Clinical genetics

authors： Papenhausen PR,Mueller OT,Bercu B,Salazar J,Tedesco TA

更新日期：1991-09-01 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：:It has been suggested that the form of X-linked mental retardation with macro-orchidism and the form associated with a marker X chromosome (fragile site at Xq27 or 28) are the same entity. Although our data support this hypothesis, one family from the literature does not. Data are presented suggesting that actual meas...

journal_title：Clinical genetics

authors： Howard-Peebles PN,Stoddard GR

更新日期：1980-02-01 00:00:00

abstract：:A psoriatic osteoarthropathy localized in the left quadrant of a male patient is described. Diagnosis was made on the basis of bone scintigraphy (specific distribution pattern) and histological evaluation of a bone biopsy. There is no indication of psoriasis in the patient's family. Nor is there an association to psor...

journal_title：Clinical genetics

authors： Holzmann H,Schmitt M,Happle R,Kaltwasser P,Hör G

更新日期：1994-08-01 00:00:00

abstract：:The logistic regression model is a popular model for data analysis in epidemiological research. In this paper, we use this model to analyze genetic data collected from gene-longevity association studies. This new approach models the probability of observing one genotype as a function of the age of investigated individ...

journal_title：Clinical genetics

authors： Tan Q,Yashin AI,De Benedictis G,Cintolesi F,Rose G,Bonafe M,Franceschi C,Vach W,Vaupel JW

更新日期：2001-12-01 00:00:00

abstract：:Parkinson's disease (PD) is characterized by major alterations of neurotransmitter activity due to damage of the substantia nigra. Changes in neuropeptide concentration within the basal ganglia may play an important role in the putative dopaminergic-peptidergic interactions associated with the disease. Cholecystokinin...

journal_title：Clinical genetics

authors： Fujii C,Harada S,Ohkoshi N,Hayashi A,Yoshizawa K,Ishizuka C,Nakamura T

更新日期：1999-11-01 00:00:00

abstract：:We identified the homozygous p.Arg12* variant in 5 patients with neurodevelopmental delay, but variation databases list many truncating heterozygous variants for this small 2-exon gene. As most of these affect the protein's C-terminus, loss-of-function mediated pathogenicity may be confined to bi-allelic truncating va...

journal_title：Clinical genetics

authors： Yavuz H,Bertoli-Avella AM,Alfadhel M,Al-Sannaa N,Kandaswamy KK,Al-Tuwaijri W,Rolfs A,Brandau O,Bauer P

更新日期：2018-10-01 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 lipoprotein Lp(a) is associated with increased risk of atherosclerosis and myocardial infarction in humans. Lp(a) is mostly confined to primate species, due to the limited phylogenetic distribution of its distinguishing protein component, apolipoprotein(a) which is a close homolog of plasminogen. The known propert...

journal_title：Clinical genetics

authors： Lawn RM

更新日期：1996-04-01 00:00:00

abstract：:Congenital heart disease (CHD) is one of most prevalent birth defects in the world. However, the underlying molecular mechanism(s) have not been fully understood. Here we report that increased CHD susceptibility is associated with genetic polymorphisms for de novo nucleotide biosynthesis in northern Chinese population...

journal_title：Clinical genetics

authors： Jiang YC,Kuang LL,Sun SN,Duan WY,Qiao B,Wang HY

更新日期：2017-05-01 00:00:00

abstract：:We report molecular and clinical analyses in 71 unrelated patients with cystic fibrosis (CF) from Andalusia (South of Spain). Direct mutation analysis of six mutations of the CFTR gene (delta F508, G542X, R1162X, N1303K, W1182X and 1949de184) was performed. The proportion of CF chromosomes with the above-mentioned mut...

journal_title：Clinical genetics

authors： Borrego S,Casals T,Dapena J,Fernández E,Giménez J,Cabeza JC,Sánchez J,Antiñolo G

更新日期：1994-10-01 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