Clinical, morphological and biochemical features in the familial articular hypermobility syndrome (FAHS): a family study.

abstract：:The forkhead, Fox, gene family comprises a diverse group of 'winged-helix' transcription factors that play important roles in development, metabolism, cancer and aging. Recently, several forkhead genes have been demonstrated to play critical roles in lymphocyte development and effector functions. Alterations of the FO...

journal_title：Clinical genetics

authors： Amorosi S,D'Armiento M,Calcagno G,Russo I,Adriani M,Christiano AM,Weiner L,Brissette JL,Pignata C

更新日期：2008-04-01 00:00:00

abstract：:Adverse drug reactions, due at least in part to interindividual variability in drug response, rank between the 4th and 6th leading causes of death in the USA. The field of 'pharmacogenetics', which is 'the study of variability in drug response due to heredity', should help in reducing drug-caused morbidity and mortali...

journal_title：Clinical genetics

authors： Nebert DW

更新日期：1999-10-01 00:00:00

abstract：:A child is described with most of the typical clinical features of the cri-du-chat syndrome. G- and C-banding studies revealed the karyotype 45,XX, -5, -15, +tdic (5;15) with the loss of short arm material from chromosome 5. Centromeric heterochromatin of the translocated No. 15 is still present in the translocation c...

journal_title：Clinical genetics

authors： Gebauer HJ,Stumpf B,Hansmann I,Grimm T

更新日期：1978-12-01 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：:Robinow Syndrome (RS), a rare skeletal dysplasia syndrome, is characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies. Both autosomal dominant and autosomal recessive patterns of inheritance have been reported. ...

journal_title：Clinical genetics

authors： Roifman M,Marcelis CL,Paton T,Marshall C,Silver R,Lohr JL,Yntema HG,Venselaar H,Kayserili H,van Bon B,Seaward G,FORGE Canada Consortium.,Brunner HG,Chitayat D

更新日期：2015-01-01 00:00:00

abstract：:Mutations in the Prophet of Pit-1 (Prop-1), a paired-like homeodomain transcription factor involved in the early embryonic pituitary development, have been reported as a cause of combined hormone deficiency (CPHD) involving growth hormone (GH), prolactin (PRL), thyroid-stimulating hormone (TSH), gonadotrophins and in ...

journal_title：Clinical genetics

authors： Paracchini R,Giordano M,Corrias A,Mellone S,Matarazzo P,Bellone J,Momigliano-Richiardi P,Bona G

更新日期：2003-08-01 00:00:00

abstract：:Molecular testing of patients with autosomal dominant hypercholesterolemia (ADH) fails to detect a causal functional mutation in 15.25% of subjects. We studied an ADH pedigree in which known ADH-causing genes (LDLR, APOB and PCSK9) were excluded. Genome-wide analysis on 15 family members detected significant associati...

journal_title：Clinical genetics

authors： Cenarro A,García-Otín AL,Tejedor MT,Solanas M,Jarauta E,Junquera C,Ros E,Mozas P,Puzo J,Pocoví M,Civeira F

更新日期：2011-05-01 00:00:00

abstract：:Cross syndrome is a rare syndrome characterized by ocular and cutaneous hypopigmentation and neurological manifestations. A few reports have been published since 1967. In this report, we present a new case of Cross syndrome with additional findings such as urinary tract abnormality, bilateral inguinal hernia, focal in...

journal_title：Clinical genetics

authors： Tezcan I,Demir E,Aşan E,Kale G,Müftüoğlu SF,Kotiloğlu E

更新日期：1997-02-01 00:00:00

abstract：:A Danish pedigree with olivo-ponto-cerebellar ataxia, transmitted as an autosomal dominant trait through six generations, has been studied. Forty-nine individuals were affected, and the main signs were staggering, ataxic gait, dysmetria and dysarthria. Early symptoms were always imbalance and clumsiness. Clinical feat...

journal_title：Clinical genetics

authors： Pedersen L

更新日期：1980-06-01 00:00:00

abstract：:Finding the genetic determinants of intermediate quantitative traits, such as serum creatinine and urea, might aid in finding the determinants of disease phenotypes, such as renal failure, that are, in part, defined according to threshold values imposed upon such traits. We evaluated the association between common var...

journal_title：Clinical genetics

authors： Hegele RA,Harris SB,Hanley AJ,Zinman B

更新日期：1999-06-01 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

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：:Primary immune deficiencies are usually attributed to genetic defects and, therefore, frequently referred to as inborn errors of immunity (IEI). We subjected the genomic DNA of 333 patients with clinical signs of IEI to next generation sequencing (NGS) analysis of 344 immunity-related genes and, in some instances, add...

journal_title：Clinical genetics

authors： Suspitsin EN,Guseva MN,Kostik MM,Sokolenko AP,Skripchenko NV,Levina AS,Goleva OV,Dubko MF,Tumakova AV,Makhova MA,Lyazina LV,Bizin IV,Sokolova NE,Gabrusskaya TV,Ditkovskaya LV,Kozlova OP,Vahliarskaya SS,Kondratenko IV,

更新日期：2020-09-01 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：: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：:Monoamine oxidase activity was assayed in platelets from 32 apparently healthy subjects using phenethylamine as substrate and two concentrations of oxygen (0.06 and 0.12 mM). Apparent Km (microM) and Vmax (nmol/mg protein/5 min) values were estimated from double reciprocal plots. The means of the Km and Vmax values we...

journal_title：Clinical genetics

authors： Koide Y,Sääf J,Roos SB,Wahlund LO,Wetterberg L

更新日期：1981-05-01 00:00:00

abstract：:We report a case of trisomy 13 with cystic hygroma and generalized hydrops fetalis diagnosed prenatally by routine ultrasound prior to genetic amniocentesis in a 34-year-old woman. Although fetal cystic hygroma is usually associated with a 45,X karyotype, this and other previous reports suggest that it may be seen in ...

journal_title：Clinical genetics

authors： Greenberg F,Carpenter RJ,Ledbetter DH

更新日期：1983-11-01 00:00:00

abstract：:A cytogenetic survey of an unselected group of mentally retarded persons in a geographically limited area was made in order to establish the frequency of chromosome abnormalities within this group. In the area there were 2,157 patients, both institutionalized and living at home. A chromosome analysis was performed in ...

journal_title：Clinical genetics

authors： Rasmussen K,Nielsen J,Dahl G

更新日期：1982-11-01 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：:Several genes involved in the familial appearance of thoracic aortic aneurysms and dissections (FTAAD) have been characterized recently, one of which is SMAD3. Mutations of SMAD3 cause a new syndromic form of aortic aneurysms and dissections associated with skeletal abnormalities. We discovered a small interstitial de...

journal_title：Clinical genetics

authors： Hilhorst-Hofstee Y,Scholte AJ,Rijlaarsdam ME,van Haeringen A,Kroft LJ,Reijnierse M,Ruivenkamp CA,Versteegh MI,Pals G,Breuning MH

更新日期：2013-04-01 00:00:00

abstract：:It has been reported that the frequency of congenital heart defects (CHD) in children of an affected parent is now three to five times what it was 20 years ago. One conceivable cause of this is that patients with CHD of a severity that would have precluded parenthood before the advent of treatment are now able to (and...

journal_title：Clinical genetics

authors： Gold RJ,Rose V,Yau Y

更新日期：1987-09-01 00:00:00

abstract：:This article provides an overview of the current knowledge on medical complications, health characteristics, and psychosocial issues in adults with achondroplasia. We have used a scoping review methodology particularly recommended for mapping and summarizing existing research evidence, and to identify knowledge gaps. ...

journal_title：Clinical genetics

authors： Fredwall SO,Maanum G,Johansen H,Snekkevik H,Savarirayan R,Lidal IB

更新日期：2020-01-01 00:00:00

abstract：:The most relevant phenotypic features seen in both proximal and distal partial trisomy 13 have been identified from a review of 35 cases. Clinical delineation of either proximal or distal partial trisomy 13 has been demonstrated through the use of conspicuous phenotypic differences. The findings of persistent foetal H...

journal_title：Clinical genetics

authors： Rogers JF

更新日期：1984-03-01 00:00:00

abstract：:There has been a paucity of research into the psychosocial impact of juvenile Huntington's disease (JHD) on the child and the family. The study reported here is part of larger project that aimed to address this and investigate the social and health care needs of those affected by JHD. Ten semistructured interviews wit...

journal_title：Clinical genetics

authors： Smith JA,Brewer HM,Eatough V,Stanley CA,Glendinning NW,Quarrell OW

更新日期：2006-06-01 00:00:00

abstract：:Transient neonatal diabetes mellitus occurs in growth-retarded infants, has an incidence of 1 in 400000 live births and has been associated with both paternal uniparental disomy of chromosome 6 and paternal duplications of 6q. We analysed samples from our cohort of patients with transient neonatal diabetes mellitus fo...

journal_title：Clinical genetics

authors： Gardner RJ,Robinson DO,Lamont L,Shield JP,Temple IK

更新日期：1998-12-01 00:00:00

abstract：:Metacarpophalangeal pattern profile (MCPP) analysis was applied to patients with Pfeiffer and Chotzen syndromes, dominantly inherited types of acrocephalosyndactyly (ACS). A characteristic MCPP was obtained for the group. However, it did not discriminate between patients with Chotzen syndrome and those with Pfeiffer s...

journal_title：Clinical genetics

authors： Escobar V,Bixler D

更新日期：1977-04-01 00:00:00

abstract：:Leigh syndrome (LS), the most common childhood mitochondrial disorder, has characteristic clinical and neuroradiologic features. Mutations in more than 75 genes have been identified in both the mitochondrial and nuclear genome, implicating a high degree of genetic heterogeneity in LS. To profile these genetic signatur...

journal_title：Clinical genetics

authors： Lee JS,Yoo T,Lee M,Lee Y,Jeon E,Kim SY,Lim BC,Kim KJ,Choi M,Chae JH

更新日期：2020-04-01 00:00:00

abstract：:We describe the results of the multidisciplinary evaluation in patients with Fabry disease and the same genetic mutation and their outcomes using different approved enzyme replacement therapy (ERT). We measured baseline data and serial results of neuropathic pain assessment and renal, cardiac and cerebrovascular funct...

journal_title：Clinical genetics

authors： Politei J,Schenone AB,Cabrera G,Heguilen R,Szlago M

更新日期：2016-01-01 00:00:00

abstract：:Psoriasis is a multifactorial skin disease characterised by epidermal abnormalities and infiltration by lymphocytes and polymorphonuclear leukocytes (PMN). Skin-derived antileukoproteinase (SKALP), also known as elafin, is a potent inhibitor of human leukocyte elastase and proteinase 3, two PMN-derived proteinases imp...

journal_title：Clinical genetics

authors： Kuijpers AL,Pfundt R,Zeeuwen PL,Molhuizen HO,Mariman EC,van de Kerkhof PC,Schalkwijk J

更新日期：1998-07-01 00:00:00

abstract：:In 107 Finnish patients with progressive myoclonus epilepsy (PME), belonging to 74 families, autosomal recessive inheritance was evident. The sex ratio was 48:51, the corrected proportion of affected sibs being 0.260. Of 68 marriages 15, or 22%, were consanguineous; several of the parents were related and the geograph...

journal_title：Clinical genetics

authors： Norio R,Koskiniemi M

更新日期：1979-05-01 00:00:00