Bardet-Biedl and Laurence-Moon syndromes in a mixed Arab population.

abstract：:FLNC-related myofibrillar myopathy could manifest as autosomal dominant late-onset slowly progressive proximal muscle weakness; involvements of cardiac and/or respiratory functions are common. We describe 34 patients in nine families of FLNC-related myofibrillar myopathy in Hong Kong ethnic Chinese diagnosed over the ...

journal_title：Clinical genetics

authors： Lee HH,Wong S,Sheng B,Pan NK,Leung YF,Lau KD,Cheng YS,Ho LC,Li R,Lee CN,Tsoi TH,Cheung YN,Fu YM,Kan NA,Chu YP,Au WL,Yeung HJ,Li SH,Cheung CM,Tong HF,Hung LE,Chan TY,Li CT,Tong TT,Tong TC,Leung HC,Lee K

更新日期：2020-05-01 00:00:00

abstract：:Three overlapping conditions, namely Rothmund-Thomson (RTS), Baller-Gerold (BGS) and RAPADILINO syndromes, have been attributed to RECQL4 mutations. Differential diagnoses depend on the clinical presentation, but the numbers of known genes remain low, leading to the widespread prescription of RECQL4 sequencing. The ai...

journal_title：Clinical genetics

authors： Piard J,Aral B,Vabres P,Holder-Espinasse M,Mégarbané A,Gauthier S,Capra V,Pierquin G,Callier P,Baumann C,Pasquier L,Baujat G,Martorell L,Rodriguez A,Brady AF,Boralevi F,González-Enseñat MA,Rio M,Bodemer C,Philip N,

更新日期：2015-03-01 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：: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：:In this report, a case with corpus callosum dysgenesis, infantile spasm, microcephaly, psychomotor retardation, exophthalmos, cleft lip-palate and abnormal EEG findings is presented. His parents are first-degree relatives. We could not fully match the findings of our patient with the criteria of any syndrome published...

journal_title：Clinical genetics

authors： Tütüncüoglu S,Ozkinay F,Genel F,Uran N,Ozgür T

更新日期：1996-04-01 00:00:00

abstract：:In situ hybridization was used to characterize an undetected chromosome translocation in a child whose metaphase chromosome analysis in peripheral blood and in skin culture revealed apparent monosomy 21. The cytogenetic study revealed 45 chromosomes, and no other structural anomalies were detected with G banding. In s...

journal_title：Clinical genetics

authors： López-Pajares I,Martin-Ancel A,Cabello P,Delicado A,Garcia-Alix A,San Roman C

更新日期：1993-02-01 00:00:00

abstract：:Between 1994 and 1998, the 23 UK genetics departments, which form the UK Huntington's Disease Consortium, have undertaken 161 direct mutation adult predictive tests on individuals whose at-risk parent was alive or had died without showing signs of Huntington's disease (HD) (5.7% of total UK tests). This study describe...

journal_title：Clinical genetics

authors： Benjamin CM,Lashwood A

更新日期：2000-07-01 00:00:00

abstract：:Autosomal dominant EEC syndrome consists of ectrodactyly, ectodermal dysplasia, and cleft lip with or without cleft palate (CL/P). We investigated an EEC kindred with 10 affected persons in three generations in order to map the causative mutation in this family and to map modifier genes that contribute to the expressi...

journal_title：Clinical genetics

authors： Ray AK,Marazita ML,Pathak R,Beever CL,Cooper ME,Goldstein T,Shaw DF,Field LL

更新日期：2004-09-01 00:00:00

abstract：:An MYH2 mutation p.(Glu706Lys) was originally described in a family with autosomal dominant inheritance, where the affected family members presented with multiple congenital contractures and ophthalmoplegia, progressing to a proximal myopathy in adulthood. Another patient with a dominant mutation p.(Leu1870Pro) was de...

journal_title：Clinical genetics

authors： Cabrera-Serrano M,Fabian VA,Boutilier J,Wise C,Faiz F,Lamont PJ,Laing NG

更新日期：2015-12-01 00:00:00

abstract：:In 1984, we interviewed 105 Belgian families with a Cystic Fibrosis (CF) child in order to assess the impact of the birth of their CF-child on subsequent family planning and to evaluate their attitudes towards prenatal diagnosis. Three years later, in 1987, they received a mailed questionnaire for an updating of the r...

journal_title：Clinical genetics

authors： Evers-Kiebooms G,Denayer L,Van den Berghe H

更新日期：1990-03-01 00:00:00

abstract：:Two brothers presented from birth with features characteristic of Sotos syndrome (cerebral gigantism): overgrowth, craniofacial abnormalities, and mental retardation with hyperactive and aggressive behavior. X-ray examination of the hands revealed imbalanced and advanced skeletal age in one, whereas anterior fontanel ...

journal_title：Clinical genetics

authors： Boman H,Nilsson D

更新日期：1980-12-01 00:00:00

abstract：:The success of biomedical research in the past few decades has led to dramatic improvements in human health and, as a result, increased life expectancy. An unexpected consequence, however, has been an increase in the number of age-related diseases and, in particular, neurodegenerative diseases. Despite their prevalenc...

journal_title：Clinical genetics

authors： Michno K,van de Hoef D,Wu H,Boulianne GL

更新日期：2005-06-01 00:00:00

abstract：:A unique substitution of glycine 934 by glutamic acid in the triple helical domain of type III collagen was identified in a proband with Ehlers-Danlos syndrome type IV. The substitution was due to the transition of G 3302 to A in alpha 1(III) cDNA which is encoded by exon 46 of COL3A1. It resulted in a severe deficien...

journal_title：Clinical genetics

authors： McGrory J,Weksberg R,Thorner P,Cole WG

更新日期：1996-12-01 00:00:00

abstract：:We report on a consanguineous family with 6 children (out of 7) affected by a spondylo-ocular syndrome. Clinical features include cataract, loss of vision due to retinal detachment, facial dysmorphism, facial hypotonia, normal height with disproportional short trunk, immobile spine with thorakal kyphosis and reduced l...

journal_title：Clinical genetics

authors： Schmidt H,Rudolph G,Hergersberg M,Schneider K,Moradi S,Meitinger T

更新日期：2001-02-01 00:00:00

abstract：:We report our findings in four cases of metachromatic leukodystrophy diagnosed in Greece during the last 4 years. The age of onset and the clinical symptoms were those described for the late infantile form of the disease. However, one patient retained his speech and mental abilities despite his pronounced motor regres...

journal_title：Clinical genetics

authors： Michelakakis H,Dimitriou E,Bartsocas C,Skardoutsou A,Giouroukos S

更新日期：1990-01-01 00:00:00

abstract：:Two semen samples from a 47,XXY male were examined using chromosome-specific DNA probes and fluorescent in situ hybridization (FISH) to determine the distribution of sex chromosomes and an autosome (chromosome 17) in the sperm. A motile population of sperm was also prepared from one sample using the swim-up technique ...

journal_title：Clinical genetics

authors： Han TH,Ford JH,Flaherty SP,Webb GC,Matthews CD

更新日期：1994-02-01 00:00:00

abstract：:We report the case of a child with partial trisomy of the short arm of chromosome 17, which was characterized by 24-color spectral karyotyping (SKY) and other fluorescence in situ hybridization (FISH) methods. The child had phenotypic features previously associated with trisomy 17p, including facial characteristics, d...

journal_title：Clinical genetics

authors： Morelli SH,Deubler DA,Brothman LJ,Carey JC,Brothman AR

更新日期：1999-05-01 00:00:00

abstract：:Cutis laxa is described in three cases: a 17-year-old man, his mother and his maternal grandmother. The onset of skin symptoms occurred from puberty to early adulthood. The skin was loose-hanging, wrinkled and without elasticity. X-ray examination showed numerous gastrointestinal diverticulae in the two older patients...

journal_title：Clinical genetics

authors： Damkier A,Brandrup F,Starklint H

更新日期：1991-05-01 00:00:00

abstract：:The increasing frequency with which the diagnosis of the 47,XXY karyotype is made requires more knowledge of the prognosis of this condition. We present four 47,XXY boys identified at birth and followed since then (Group I), and four 47,XXY boys diagnosed because of physical and/or emotional problems (Group II). Physi...

journal_title：Clinical genetics

authors： Salbenblatt JA,Bender BG,Puck MH,Robinson A,Webber ML

更新日期：1981-08-01 00:00:00

abstract：:A family is described in which a mother and her two children carry a tandem duplication of the short arm of chromosome 8. Their phenotypes are similar and characterised by distinct facial dysmorphism, small stature and mild mental retardation. This is one of the first cases of direct familial transmission of a partial...

journal_title：Clinical genetics

authors： Dhooge C,Van Roy N,Craen M,Speleman F

更新日期：1994-01-01 00:00:00

abstract：:Mutations in the insulin receptor gene have been reported in cases of type A insulin resistance. We report herein two cases of type A insulin resistance, which involve some novel mutations. Case 1 is a heterozygote of the C253Y missense mutation and case 2 is a heterozygote of the Y864X nonsense mutation. In the C253Y...

journal_title：Clinical genetics

authors： Osawa H,Nishimiya T,Ochi M,Niiya T,Onuma H,Kitamuro F,Kaino Y,Kida K,Makino H

更新日期：2001-03-01 00:00:00

abstract：:This review assessed parents' attitudes toward childhood genetic testing for health conditions, with a focus on perceived advantages and disadvantages. We also evaluated the factors that influence parents' attitudes toward childhood genetic testing. We searched Medline, Medline In-Process, EMBASE, PsycINFO, Social Wor...

journal_title：Clinical genetics

authors： Lim Q,McGill BC,Quinn VF,Tucker KM,Mizrahi D,Patenaude AF,Warby M,Cohn RJ,Wakefield CE

更新日期：2017-12-01 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：:For Incontinentia pigmenti Bloch-Sulzberger (IP) and Aicardi syndrome, an X-linked dominant transmission with lethality in hemizygous males has been proposed. The typical transition from inflammation to verrucous hypertrophy and hyperpigmented skin areas in IP suggests a gradual replacement of defective cells by norma...

journal_title：Clinical genetics

authors： Wieacker P,Zimmer J,Ropers HH

更新日期：1985-09-01 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：: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：:Lipoprotein(a) [Lp(a)] is an important genetic trait associated with cardiovascular disease. While Lp(a) levels have been demonstrated to be approximately twice as high in black adults and children compared with whites, this relationship has not been assessed in the elderly. During the 1987 recall of the Charleston He...

journal_title：Clinical genetics

authors： Knapp RG,Schreiner PJ,Sutherland SE,Keil JE,Gilbert GE,Klein RL,Hames C,Tyroler HA

更新日期：1993-11-01 00:00:00

abstract：:Two brothers showed ichthyosis, bilateral cryptorchidism, hypogenitalism and mental retardation. In addition, the younger brother had short stature associated with disorders of secretions of insulin, ACTH and GH. This is the third reported case of the syndrome of ichthyosis and hypogonadism. ...

journal_title：Clinical genetics

authors： Abe K,Matsuda I,Matsuura N,Murayama T,Uzuki K,Okuno A

更新日期：1976-03-01 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：:In 100 children with Down syndrome (DS), the parental origin of the supernumery chromosome 21 was investigated. In 76 out of the 100 cases the polymorphic regions were informative, i.e. the nondisjunction could be traced. Assessment of the alpha 1-antitrypsin/alpha 1-protease inhibitor (PI) types in these DS children ...

journal_title：Clinical genetics

authors： Jongbloet PH,Frants RR,Hamers AJ

更新日期：1981-10-01 00:00:00