The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population.

abstract：:Autism spectrum disorder (ASD) represents a set of neurodevelopmental disorders with a strong genetic aetiology. Chromosomal rearrangements have been detected in 5-10% of the patients with ASD, and recent applications of array comparative genomic hybridisation (aCGH) are identifying further candidate regions and genes...

journal_title：Clinical genetics

authors： Ozgen HM,van Daalen E,Bolton PF,Maloney VK,Huang S,Cresswell L,van den Boogaard MJ,Eleveld MJ,van 't Slot R,Hochstenbach R,Beemer FA,Barrow M,Barber JC,Poot M

更新日期：2009-10-01 00:00:00

abstract：:Plasma from 158 presumed healthy nuclear families has been analyzed by high-resolution, two-dimensional electrophoresis to study the frequency and effects of the genetic polymorphism in human apolipoprotein A-IV. Two common alleles, apo A-IV 1 and apo A-IV 2 were detected with relative frequencies of 0.943 and 0.057, ...

journal_title：Clinical genetics

authors： Visvikis S,Steinmetz J,Boerwinkle E,Gueguen R,Galteau MM,Siest G

更新日期：1990-06-01 00:00:00

abstract：:The syndrome of peroneal muscular atrophy, or Charcot-Marie-Tooth (CMT), disease represents the most common inherited peripheral neuropathy, with a prevalence of about 1 per 2500. The disease is usually transmitted in an autosomal dominant fashion, although it can display all the mendelian patterns of inheritance. The...

journal_title：Clinical genetics

authors： Guzzetta V,Santoro L,Gasparo-Rippa P,Ragno M,Vita G,Caruso G,Andria G

更新日期：1995-01-01 00:00:00

abstract：:Population-based genetic screening has been a mainstay of public health in the United States for many years. The goal of genetic screening is to identify individuals at increased risk for treatable diseases. The evolution of genetic testing to include multi-disease panels allows for new screening applications which ch...

journal_title：Clinical genetics

authors： Golden-Grant K,Merritt JL 2nd,Scott CR

更新日期：2015-12-01 00:00:00

abstract：:Usher syndrome type III is an autosomal recessive disorder clinically characterized by the association of retinitis pigmentosa (RP), variable presence of vestibular dysfunction and progressive hearing loss, being the progression of the hearing impairment the critical parameter classically used to distinguish this form...

journal_title：Clinical genetics

authors： Aller E,Jaijo T,Oltra S,Alió J,Galán F,Nájera C,Beneyto M,Millán JM

更新日期：2004-12-01 00:00:00

abstract：:The syndromic association of striae in the long bones and pelvis, together with sclerosis of the base of the skull, has been investigated in four families. Impairment of hearing and alteration in the shape of the head are the most important clinical manifestations. Spinal abnormalities are an inconsistent feature. The...

journal_title：Clinical genetics

authors： Horan FT,Beighton PH

更新日期：1978-02-01 00:00:00

abstract：:The CDKL5 gene has been implicated in infantile spasms and more recently in a Rett syndrome-like phenotype. We report a case of a young girl presenting generalized convulsions at 10 days of life. Subsequent mutation analysis by denaturing high-performance liquid chromatography of MECP2 and CDKL5 genes revealed heteroz...

journal_title：Clinical genetics

authors： Nectoux J,Heron D,Tallot M,Chelly J,Bienvenu T

更新日期：2006-07-01 00:00:00

abstract：:Genetic and environmental factors have been implicated in the etiology of atopy and of serum IgE levels. In order to eliminate post-natal environmental influences we measured IgE in cord blood (CB-IgE) from a cohort of unselected, like-sexed twins. IgE determination was performed with a sensitive radioimmunoassay with...

journal_title：Clinical genetics

authors： Husby S,Holm NV,Christensen K,Skov R,Morling N,Petersen PH

更新日期：1996-11-01 00:00:00

abstract：:Metaphyseal anadysplasia (MANDP) is a rare autosomal recessive form of skeletal dysplasia characterized by normal length at birth and transitory bowing of the legs. Although several families with MANDP have been reported, homozygous mutations in the matrix metalloproteinase type 9 (MMP9) gene have been described in on...

journal_title：Clinical genetics

authors： Sharony R,Borochowitz Z,Cohen L,Shtorch-Asor A,Rosenfeld R,Modai S,Reinstein E

更新日期：2017-12-01 00:00:00

abstract：:Schematic presentation of NTRK1 protein structure. Variants identified in this study are shown in red and previously reported variants associated with CIPA are shown in black (LRM, leucine rich motif; Ig, immunoglobulin-like domain; TM, transmembrane domain; TK, tyrosine kinase domain). ...

journal_title：Clinical genetics

authors： Amin S,Forrester N,Norman A,Lux A,Vijayakumar K

更新日期：2017-11-01 00:00:00

abstract：:We report on a patient with Marfan's syndrome, with coexistent obstructive sleep hypopnea (OSH) and restrictive lung disease, complicated by respiratory insufficiency, who was successfully treated with nasal intermittent positive airway pressure (NIPPV) and oxygen. NIPPV therapy turned out to be effective on arterial ...

journal_title：Clinical genetics

authors： Verbraecken J,Paelinck BP,Willemen M,Van de Heyning P,De Backer W

更新日期：2003-02-01 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：:A set of 15 surface measurements taken directly from the craniofacial region were determined in 51 patients with Waardenburg syndrome type I (WSI). A roentgencephamometric analysis including 20 linear dimensions was also performed by the use of cephalograms of 28 patients. Pairs between patients and controls of the sa...

journal_title：Clinical genetics

authors： da-Silva EO,Batista JE,Medeiros MA,Fonteles SM

更新日期：1993-07-01 00:00:00

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：:Two patients with the oro-facial-digital syndrome II or Mohr syndrome presented laryngeal anomalies and hallucal and postaxial polysyndactyly of the feet. Those rare malformations are typically observed in patients with the Majewski syndrome, a lethal, short rib-polydactyly skeletal dysplasia with orofacial findings a...

journal_title：Clinical genetics

authors： Silengo MC,Bell GL,Biagioli M,Franceschini P

更新日期：1987-05-01 00:00:00

abstract：:The Ehlers-Danlos syndromes (EDS) and associated hypermobility spectrum disorders (HSD) are a heterogenous group of connective tissue disorders associated with significant morbidity. The urogenital aspects of these disorders are understudied and there is little guidance on the prevalence, types, or outcomes of urogeni...

journal_title：Clinical genetics

authors： Gilliam E,Hoffman JD,Yeh G

更新日期：2020-01-01 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：: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：:Rhizomelic chondrodysplasia punctata (RCDP), a peroxisomal disorder, is considered to be a lethal neonatal autosomal recessive chondrodysplasia. We report five patients, three of whom survived beyond 1 year, and we summarize the findings in 21 patients from a literature review who survived beyond 1 year. In those pati...

journal_title：Clinical genetics

authors： Wardinsky TD,Pagon RA,Powell BR,McGillivray B,Stephan M,Zonana J,Moser A

更新日期：1990-08-01 00:00:00

abstract：:Mutations in the RMRP gene that codes for an RNA subunit of the MRP RNAse complex are the cause of cartilage-hair hypoplasia (CHH; MIM 250250). We tested the hypothesis that recessive metaphyseal dysplasia without hypotrichosis (M1M 250460), a disorder presenting with short stature and metaphyseal dysplasia similar to...

journal_title：Clinical genetics

authors： Bonafé L,Schmitt K,Eich G,Giedion A,Superti-Furga A

更新日期：2002-02-01 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：:Mental retardation associated with short stature, craniofacial dysmorphism, macrodontia and minor skeletal anomalies is reported in two sisters and their mother. The similarity with and the relationship to the KBG syndrome is discussed and the importance of clinical syndrome identification in familial mental retardati...

journal_title：Clinical genetics

authors： Fryns JP,Haspeslagh M

更新日期：1984-07-01 00:00:00

abstract：:Autosomal dominant polycystic kidney disease (ADPKD) is a heterogeneous genetic disorder caused by loss of function mutations of PKD1 or PKD2 genes. Although PKD1 is highly polymorphic and the new mutation rate is relatively high, the role of mosaicism is incompletely defined. Herein, we describe the molecular analysi...

journal_title：Clinical genetics

authors： Tan AY,Blumenfeld J,Michaeel A,Donahue S,Bobb W,Parker T,Levine D,Rennert H

更新日期：2015-04-01 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：:Phenotypic variations in α-thalassemia mainly depend on the defective α-globin gene number. Genetic modifiers of the phenotype of Hemoglobin H (HbH) disease were poorly reported, apart from β-thalassemia allele that was identified ameliorating the severity of α-thalassemia. Because erythroid Krüppel-like factor (KLF1)...

journal_title：Clinical genetics

authors： Yu LH,Liu D,Cai R,Shang X,Zhang XH,Ma XX,Yan SH,Fang P,Zheng CG,Wei XF,Liu YH,Zhou TB,Xu XM

更新日期：2015-07-01 00:00:00

abstract：:It has been suggested that patients with autosomal recessive merosin deficient congenital muscular dystrophy (CMD), as opposed to the merosin positive cases form a homogeneous subgroup of a clinically more severe form of CMD. We examined merosin expression in muscle biopsies from five children with the severe classica...

journal_title：Clinical genetics

authors： Vajsar J,Chitayat D,Becker LE,Ho M,Ben-Zeev B,Jay V

更新日期：1998-09-01 00:00:00

abstract：:The concept of personality disorders is based on deviant personality traits in both the DSM-III-R and ICD-10 classifications. A diagnosis of personality disorder can be made reliably with structured interviews. Many individuals are diagnosed with more than one personality disorder, and other mental disorders are often...

journal_title：Clinical genetics

authors： Dahl AA

更新日期：1994-07-01 00:00:00

abstract：:Disorders of sex development (DSD) are rare disorders in which there is discordance between chromosomal, gonadal, and phenotypic sex. Only a minority of patients clinically diagnosed with DSD obtains a molecular diagnosis, leaving a large gap in our understanding of the prevalence, management, and outcomes in affected...

journal_title：Clinical genetics

authors： Arboleda VA,Lee H,Sánchez FJ,Délot EC,Sandberg DE,Grody WW,Nelson SF,Vilain E

更新日期：2013-01-01 00:00:00

abstract：:The canonical wingless (Wnt) and fibroblast growth factor (FGF) signaling pathways involving CTNNB1 and TBX4, respectively, are crucial for the regulation of human development. Perturbations of these pathways and disruptions from biological homeostasis have been associated with abnormal morphogenesis of multiple organ...

journal_title：Clinical genetics

authors： Karolak JA,Szafranski P,Kilner D,Patel C,Scurry B,Kinning E,Chandler K,Jhangiani SN,Coban Akdemir ZH,Lupski JR,Popek E,Stankiewicz P

更新日期：2019-10-01 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