Perinatal hypophosphatasia: diagnosis and detection of heterozygote carriers within the family.

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：:Chromosomal microarray analysis (CMA) is standard of care, first-tier clinical testing for detection of genomic copy number variation among patients with developmental disabilities. Although diagnostic yield is higher than traditional cytogenetic testing, management impact has not been well studied. We surveyed geneti...

journal_title：Clinical genetics

authors： Riggs ER,Wain KE,Riethmaier D,Smith-Packard B,Faucett WA,Hoppman N,Thorland EC,Patel VC,Miller DT

更新日期：2014-02-01 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：: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：:Ophthalmology has been an early adopter of personalized medicine. Drawing on genomic advances to improve molecular diagnosis, such as next-generation sequencing, and basic and translational research to develop novel therapies, application of genetic technologies in ophthalmology now heralds development of gene replace...

journal_title：Clinical genetics

authors： Porter LF,Black GC

更新日期：2014-07-01 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：: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：: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：:Adenosine diphosphate (ADP)-ribosylation factor-like 2 (ARL2) protein participates in a broad range of cellular processes and acts as a mediator for mutant ARL2BP in cilium-associated retinitis pigmentosa and for mutant HRG4 in mitochondria-related photoreceptor degeneration. However, mutant ARL2 has not been linked t...

journal_title：Clinical genetics

authors： Cai XB,Wu KC,Zhang X,Lv JN,Jin GH,Xiang L,Chen J,Huang XF,Pan D,Lu B,Lu F,Qu J,Jin ZB

更新日期：2019-07-01 00:00:00

abstract：:We present a dysmorphic syndrome in eight males of the same family (four brothers, three cousins and one uncle) that is characterised by: mental retardation, facial dysmorphia, abnormal growth of teeth, skin dimple at the lower back, clinodactyly, patella luxation, malformation of lower limbs, abnormalities of the fun...

journal_title：Clinical genetics

authors： Prieto F,Badía L,Mulas F,Monfort A,Mora F

更新日期：1987-11-01 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：:This paper presents a female patient with a clinical picture of gonadal dysgenesis and the chromosome constitution with a monocentric isochromosome of one X and a marker chromosome 21 with deleted short arm. The proband's father and other members of the family suffered from Huntington's chorea and each of them possess...

journal_title：Clinical genetics

authors： Gaál M,Tóth A,Bösze P,László J

更新日期：1984-01-01 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：:A study of Huntington's Chorea in South Wales has shown a prevalence of 7.61 per 100,000 in the counties of Gwent and Glamorgan, with a total population of 1.7 million. Heterozygote frequency is close to 1 in 5,000. Total ascertainment within this area has been attempted, and experience since conclusion of the study h...

journal_title：Clinical genetics

authors： Walker DA,Harper PS,Wells CE,Tyler A,Davies K,Newcombe RG

更新日期：1981-04-01 00:00:00

abstract：:Mowat-Wilson syndrome (MWS) is an autosomal dominant developmental disorder with mental retardation and variable multiple congenital abnormalities due to mutations of the ZEB2 (ZFHX1B) gene at 2q22. MWS was first described in 1998 and the causative gene was delineated in 2001. Since then, 115 different mutations of ZE...

journal_title：Clinical genetics

authors： Engenheiro E,Møller RS,Pinto M,Soares G,Nikanorova M,Carreira IM,Ullmann R,Tommerup N,Tümer Z

更新日期：2008-06-01 00:00:00

abstract：:It is well known that founder mutations associated with cancer risk have useful implications for molecular diagnostics. We report the presence of a founder mutation in EPCAM involved in the etiology of Lynch syndrome (LS). The mutation extends nearly 8.7 kb (c.858 + 2478_*4507del) and is shared by 8 Polish families. F...

journal_title：Clinical genetics

authors： Dymerska D,Gołębiewska K,Kuświk M,Rudnicka H,Scott RJ,Billings R,Pławski A,Boruń P,Siołek M,Kozak-Klonowska B,Szwiec M,Kilar E,Huzarski T,Byrski T,Lubiński J,Kurzawski G

更新日期：2017-12-01 00:00:00

abstract：:In this paper we report a 22-year-old male with an asymmetric skeletal dysplasia, affecting almost the whole right part of the body and closely resembling pseudoachondroplastic dysplasia. This "segmental" type of chondrodysplasia is apparently another rare example of a somatic mutation of an autosomal dominant gene in...

journal_title：Clinical genetics

authors： Fryns JP,van den Berghe H

更新日期：1986-10-01 00:00:00

abstract：:We utilized a sample of 299 adult females aged between 19 and 86 years, carrying fragile X mental retardation (FMR1) alleles with small CCG expansions ranging from 50 to 141 repeats to analyse the relationships between psychological symptoms as assessed by the Symptom Checklist-90-Revised (SCL-90-R) and the size of th...

journal_title：Clinical genetics

authors： Loesch DZ,Bui MQ,Hammersley E,Schneider A,Storey E,Stimpson P,Burgess T,Francis D,Slater H,Tassone F,Hagerman RJ,Hessl D

更新日期：2015-02-01 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：:Thyroid function has been studied in 121 patients between 13 and 48 years old with proven Down syndrome. Chemically, hypothyroidism was found in 17% and hyperthyroidism in 2.5% of the patients; 18% of patients had goiter. Thyroid antibodies were detected in 33% of subjects studied. The abnormal findings were almost eq...

journal_title：Clinical genetics

authors： Sare Z,Ruvalcaba RH,Kelley VC

更新日期：1978-09-01 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：:The ectodermal dysplasias (EDs) are a large and complex nosologic group of diseases; more than 170 different pathologic clinical conditions have been identified. Despite the great number of EDs described so far, few causative genes have been identified. We review EDs in the light of the most recent molecular findings ...

journal_title：Clinical genetics

authors： Priolo M,Silengo M,Lerone M,Ravazzolo R

更新日期：2000-12-01 00:00:00

abstract：:Genetic diseases in the Tunisian population represent a real problem of public health as their spectrum encompasses more than 400 disorders. Their frequency and distribution in the country have been influenced by demographic, economic and social features especially consanguinity. In this article, we report on genetic ...

journal_title：Clinical genetics

authors： Romdhane L,Messaoud O,Bouyacoub Y,Kerkeni E,Naouali C,Cherif Ben Abdallah L,Tiar A,Charfeddine C,Monastiri K,Chabchoub I,Hachicha M,Tadmouri GO,Romeo G,Abdelhak S

更新日期：2016-03-01 00:00:00

abstract：:The D/I (deletion, D, insertion, I) polymorphism of the angiotensin-converting enzyme (ACE) gene has been extensively studied for its association with a number of cardiovascular and other disease states. However, its potential association with differential clinical efficacy of ACE inhibitors (ACE-I) administered to pa...

journal_title：Clinical genetics

authors： Zee RY,Solomon SD,Ajani UA,Pfeffer MA,Lindpaintner K,Heart investigators.

更新日期：2002-01-01 00:00:00

abstract：:The cause of hearing impairment has not been elucidated in a large proportion of patients. We screened by 1-Mb array-based comparative genomic hybridization (aCGH) 29 individuals with syndromic hearing impairment whose clinical features were not typical of known disorders. Rare chromosomal copy number changes were det...

journal_title：Clinical genetics

authors： Catelani AL,Krepischi AC,Kim CA,Kok F,Otto PA,Auricchio MT,Mazzeu JF,Uehara DT,Costa SS,Knijnenburg J,Tabith A Jr,Vianna-Morgante AM,Mingroni-Netto RC,Rosenberg C

更新日期：2009-11-01 00:00:00

abstract：:The Vietnam Era Twin Registry (VETR) is a registry of 7375 American male veteran twin pairs born between 1939 and 1955 who served in the armed forces of the United States between 1964 and 1975. Optimal use of registry data requires the determination of zygosity. Two approaches are available: analysis of blood genetic ...

journal_title：Clinical genetics

authors： Eisen S,Neuman R,Goldberg J,Rice J,True W

更新日期：1989-06-01 00:00:00

abstract：:Genetic studies as well as in situ hybridisation data have strongly demonstrated that the genes coding for apoprotein(a) and plasminogen are linked and localised to chromosome 6 at band 6q26-27. We describe in this report the presence of a recombination event in a region of approximately 50 kb of DNA separating the tw...

journal_title：Clinical genetics

authors： Magnaghi P,Agazzi A,Semino O,Ferrari M,Barbui T,D'Angelo A,Taramelli R

更新日期：1995-06-01 00:00:00

abstract：:Mutations in the myelin protein zero (MPZ) gene are one of the frequent causes of Charcot-Marie-Tooth (CMT) hereditary neuropathies. Because the mutation rate of MPZ gene is rather high and some mutations are reported as polymorphisms, the proper clinical, electrophysiological examination and the segregation of the ne...

journal_title：Clinical genetics

authors： Brozková D,Mazanec R,Haberlová J,Sakmaryová I,Seeman P

更新日期：2010-07-01 00:00:00

abstract：:Niemann-Pick diseases are hereditary neurovisceral lysosomal lipid storage disorders, of which the rare type C2 almost uniformly presents with respiratory distress in early infancy. In the patient presented here, the NPC2 exon 4 frameshift mutation c.408_409delAA caused reduced NPC2 protein levels in serum and lung la...

journal_title：Clinical genetics

authors： Griese M,Brasch F,Aldana VR,Cabrera MM,Goelnitz U,Ikonen E,Karam BJ,Liebisch G,Linder MD,Lohse P,Meyer W,Schmitz G,Pamir A,Ripper J,Rolfs A,Schams A,Lezana FJ

更新日期：2010-02-01 00:00:00

abstract：:A two-year-old female with the Pierre Robin anomaly and bilateral index finger malformations is described. Hypertelorism, full cheeks, posteriorly rotated ears with prominent antihelix, short neck, simian creases, bilateral fifth finger clinodactyly, and short toes with hypoplastic small nails were also present. Her m...

journal_title：Clinical genetics

authors： Dignan PS,Martin LW,Zenni EJ Jr

更新日期：1986-02-01 00:00:00