Long-term complications in Hunter's syndrome.

abstract：:Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA; MPS IIIA) is caused by a deficiency of the lysosomal enzyme haparan N-sulphatase (NS). The genomic DNA segments of the NS gene from two Chinese patients with MPS IIIA were amplified by polymerase chain reaction, followed by DNA sequencing to study the molecu...

journal_title：Clinical genetics

authors： Lee-Chen GJ,Lin SP,Ko MH,Chuang CK,Chen CP,Lee HH,Cheng SC,Shen CH,Tseng KL,Li CL

更新日期：2002-03-01 00:00:00

abstract：:Methods are presented to estimate relative fitness of carriers as a function of fertility, survival, are generation time in pedigrees under incomplete ascertainment. A large sample of diverse chromosomal aberrations reveals significant effects on all three parameters, giving a relative fitness of .769 +/- .039. There ...

journal_title：Clinical genetics

authors： Morton NE,Jacobs PA,Frackiewicz A,Law P,Hilditch CJ

更新日期：1975-09-01 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：: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：: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：: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

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：:Ectodermal dysplasias are a group of genetic disorders defined by ectodermal derivative impairment (EDI). To test the impact of the Wnt/beta-catenin pathway in the genetic screening of EDI, we performed a molecular gene study of WNT10A in 60 subjects from a population of 133 young Italian patients referred for the imp...

journal_title：Clinical genetics

authors： Guazzarotti L,Tadini G,Mancini GE,Sani I,Pisanelli S,Galderisi F,D'Auria E,Secondi R,Bottero A,Zuccotti GV

更新日期：2018-03-01 00:00:00

abstract：:Lynch syndrome is caused by germline mutations in the mismatch repair genes MLH1, MSH2, MSH6 or PMS2. The novel MSH2 c.[2635-3T>C; 2635-5C>T] mutation was identified in 4 Lynch families, cosegregating with the disease. This mutation, located in intron 15, was predicted to alter the correct mRNA processing by in silico...

journal_title：Clinical genetics

authors： Menéndez M,Castellví-Bel S,Pineda M,de Cid R,Muñoz J,González S,Teulé A,Balaguer F,Ramón y Cajal T,Reñé JM,Blanco I,Castells A,Capellà G

更新日期：2010-08-01 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：:To assess some of the emotional aspects of why parents seek genetic counseling and to measure the effect of genetic counseling in parents of children with Down's syndrome, pre- and post-counseling measures of anxiety, hostility, depression, and self-concept were obtained from 43 parents. Pre-counseling responses were ...

journal_title：Clinical genetics

authors： Antley RM,Hartlage LC

更新日期：1976-03-01 00:00:00

abstract：:Primary cilia are microtubule-rich hair-like extensions protruding from the surface of most post-mitotic cells. They act as sensory organelles that help interpret various environmental cues. Mutations in genes encoding proteins involved in ciliogenesis or protein transport to the primary cilia lead to a wide variety o...

journal_title：Clinical genetics

authors： Ramamurthy V,Cayouette M

更新日期：2009-08-01 00:00:00

abstract：:Chromosomal aberration mostly occurs in chromosomes 21, 18 and 13, with an incidence approximately 1 out of 160 live births in humans, therefore making prenatal diagnosis necessary in clinics. Current methods have drawbacks such as time consuming, high cost, complicated operations and low sensitivity. In this paper, a...

journal_title：Clinical genetics

authors： Tong H,Jin Y,Xu Y,Zou B,Ye H,Wu H,Kumar S,Pitman JL,Zhou G,Song Q

更新日期：2016-11-01 00:00:00

abstract：:Isolated cleft palate (CP) is considered to be a heterogeneous trait with an important genetic contribution to the etiology. Multifactorial-threshold models of non-syndromic CP inheritance assume a female predominance. The present study of 52 Danish birth cohorts, using several ascertainment sources, identified 2301 C...

journal_title：Clinical genetics

authors： Christensen K,Fogh-Andersen P

更新日期：1994-11-01 00:00:00

abstract：:RNA exosome is a highly conserved ribonuclease complex essential for RNA processing and degradation. Bi-allelic variants in exosome subunits EXOSC3, EXOSC8 and EXOSC9 have been reported to cause pontocerebellar hypoplasia type 1B, type 1C and type 1D, respectively, while those in EXOSC2 cause short stature, hearing lo...

journal_title：Clinical genetics

authors： Somashekar PH,Kaur P,Stephen J,Guleria VS,Kadavigere R,Girisha KM,Bielas S,Upadhyai P,Shukla A

更新日期：2021-01-19 00:00:00

abstract：:Despite attention to psychological issues during genetic counselling and testing for hereditary breast and ovarian cancer risk, limited information is available on cancer-specific distress among African American women being targeted for participation in counselling and testing. Therefore, the purpose of this study is ...

journal_title：Clinical genetics

authors： Halbert Ch,Kessler L,Collier A,Paul Wileyto E,Brewster K,Weathers B

更新日期：2005-09-01 00:00:00

abstract：:The Schimmelpenning-Feuerstein-Mims syndrome (SFM), characterized by linear nevus sebaceous and ocular and neurologic abnormalities, is a sporadic condition without known familial cases or etiology. We report the occurrence of SFM in only one of two monozygotic (MZ) twins. After considering a variety of possible causa...

journal_title：Clinical genetics

authors： Schworm HD,Jedele KB,Holinski E,Hörtnagel K,Rudolph G,Boergen KP,Kampik A,Meitinger T

更新日期：1996-11-01 00:00:00

abstract：:The Coffin-Lowry syndrome (CLS) is a rare X-linked semidominant syndrome characterized by severe psychomotor retardation, facial dysmorphism, digit abnormalities and progressive skeletal deformations. CLS is caused by mutations in a gene located in Xp22.2, RPS6KA3. This gene encodes for a growth factor-regulated serin...

journal_title：Clinical genetics

authors： Delaunoy JP,Dubos A,Marques Pereira P,Hanauer A

更新日期：2006-08-01 00:00:00

abstract：:In some anencephalic fetuses exposed neural tissue mass of varied size can be demonstrated. This is known as exencephaly. The authors diagnosed by ultrasound 10 typical exencephalic cases prenatally between 14 and 21 weeks of gestation. Nine singular pregnancies were terminated and in the twin pregnancy a selective fe...

journal_title：Clinical genetics

authors： Papp Z,Csécsei K,Tóth Z,Polgár K,Szeifert GT

更新日期：1986-11-01 00:00:00

abstract：:Two 1p36 contiguous gene deletion syndromes are known so far: the terminal 1p36 deletion syndrome and a 1p36 deletion syndrome with a critical region located more proximal at 1p36.23-1p36.22. We present even more proximally located overlapping deletions from seven individuals, with the smallest region of overlap compr...

journal_title：Clinical genetics

authors： Aagaard Nolting L,Brasch-Andersen C,Cox H,Kanani F,Parker M,Fry AE,Loddo S,Novelli A,Dentici ML,Joss S,Jørgensen JP,Fagerberg CR

更新日期：2020-06-01 00:00:00

abstract：:We have conducted a study to assess the opinions of parents of individuals with mucopolysaccharidoses (MPS) and adults with MPS regarding newborn screening (NBS) for this condition, as testing is now technically possible. A questionnaire including a number of hypothetical clinical scenarios about NBS for MPS was distr...

journal_title：Clinical genetics

authors： Hayes IM,Collins V,Sahhar M,Wraith JE,Delatycki MB

更新日期：2007-05-01 00:00:00

abstract：:Specific chromosome rearrangements associated with disease entities are invaluable resources for physical mapping. A deletion on the X chromosome of a male leads to the nullisomy for X-linked genes, resulting in the onset of genetic diseases and/or the absence of the DNA probe detectable sequences. This permits the lo...

journal_title：Clinical genetics

authors： Yang HM,Lund T,Niebuhr E,Nørby S,Schwartz M,Shen L

更新日期：1990-08-01 00:00:00

abstract：:While there are many reports in the literature of mutation testing of BRCA1 and BRCA2 in breast/ovarian cancer families, the question of which type of ovarian cancers are relevant still pertains. We have undertaken whole gene screening including multiple ligation-dependent probe amplification in an affected individual...

journal_title：Clinical genetics

authors： Evans DG,Young K,Bulman M,Shenton A,Wallace A,Lalloo F

更新日期：2008-04-01 00:00:00

abstract：:Therapeutic abortions were performed in two cases of spina bifida which were diagnosed by determination of the lafa fetoprotein levels in the amniotic fluid and maternal serum. ...

journal_title：Clinical genetics

authors： Malmqvist E,Lindsten J,Nøorgaard-Pedersen B,Hellström B,Sundberg B

更新日期：1975-02-01 00:00:00

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：:Sanfilippo syndrome (mucopolysaccharidosis type III) is the commonest mucoploysaccharidosis. It causes neurodegeneration with often profound sleep and behavioral disturbance. Management of the sleep disturbance is difficult and inconsistent. In this study, we surveyed clinicians with particular expertise in the manage...

journal_title：Clinical genetics

authors： Fraser J,Wraith JE,Delatycki MB

更新日期：2002-11-01 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：:This report compares the pathogenetic influences of selective deletion and triplicaton of chromosome 13 derived from a familial 12;13 insertional translocation. In the proband a heritable chromosomal basis for his bilateral retinoblastomas is established [46,XY,del (13) (pter leads to q12.5: :q22.1 leads to qter)mat],...

journal_title：Clinical genetics

authors： Riccardi VM,Hittner HM,Francke U,Pippin S,Holmquist GP,Kretzer FL,Ferrell R

更新日期：1979-04-01 00:00:00

abstract：:Split-hand/foot malformation (SHFM) is caused by mutations in TP63, DLX5, DLX6, FGF8, FGFR1, WNT10B, and BHLHA9. The clinical features of SHFM caused by mutations of these genes are not distinguishable. This implies that in normal situations these SHFM-associated genes share an underlying regulatory pathway that is in...

journal_title：Clinical genetics

authors： Kantaputra PN,Carlson BM

更新日期：2019-01-01 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