Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia.

abstract：:Two hundred and thirty-five survivors of myocardial infarction (MI) were compared to 384 controls with respect to distribution of genotypes and gene frequencies in the A1166C polymorphism at the angiotensin II type 1 receptor (AT1R) locus. No differences in allele frequencies or genotype distribution were observed whe...

journal_title：Clinical genetics

authors： Berge KE,Bakken A,Bøhn M,Erikssen J,Berg K

更新日期：1997-08-01 00:00:00

abstract：:4-Methylumbelliferyl-6-sulfo-2-acetamido-2-deoxy-beta-D-glucopyranoside was synthesized and tested as a substrate for the diagnosis of GM2 gangliosidoses using leukocytes. Less than 2% of normal activity was measured in homogenates from patients with typical Tay-Sachs disease and from a patient with a variant form hav...

journal_title：Clinical genetics

authors： Inui K,Wenger DA

更新日期：1984-10-01 00:00:00

abstract：:Autosomal recessive malignant infantile osteopetrosis is a congenital disease characterized by pathologically increased bone density. Recently, the use of whole exome sequencing has been utilized as a clinical diagnostic tool in a number of Mendelian disorders. In this study, whole exome sequencing (WES) was successfu...

journal_title：Clinical genetics

authors： Shamriz O,Shaag A,Yaacov B,NaserEddin A,Weintraub M,Elpeleg O,Stepensky P

更新日期：2017-07-01 00:00:00

abstract：:Failure to thrive (FTT) causes significant morbidity, often without clear etiologies. Six individuals of a large consanguineous family presented in the neonatal period with recurrent vomiting and diarrhea, leading to severe FTT. Standard diagnostic work up did not ascertain an etiology. Autozygosity mapping and whole ...

journal_title：Clinical genetics

authors： Al-Thihli K,Afting C,Al-Hashmi N,Mohammed M,Sliwinski S,Al Shibli N,Al-Said K,Al-Kasbi G,Al-Kharusi K,Merle U,Füllekrug J,Al-Maawali A

更新日期：2020-11-15 00:00:00

abstract：:The potential causes for the incomplete penetrance of Pelizaeus-Merzbacher disease (PMD) in female carriers of PLP1 mutations are not well understood. We present a family with a boy having PMD in association with PLP1 duplication and three females who are apparent manifesting carriers. Custom high-resolution oligonucl...

journal_title：Clinical genetics

authors： Carvalho CM,Bartnik M,Pehlivan D,Fang P,Shen J,Lupski JR

更新日期：2012-06-01 00:00:00

abstract：:Congenital heart disease (CHD) is one of most prevalent birth defects in the world. However, the underlying molecular mechanism(s) have not been fully understood. Here we report that increased CHD susceptibility is associated with genetic polymorphisms for de novo nucleotide biosynthesis in northern Chinese population...

journal_title：Clinical genetics

authors： Jiang YC,Kuang LL,Sun SN,Duan WY,Qiao B,Wang HY

更新日期：2017-05-01 00:00:00

abstract：:Most but not all epidemiologic studies have shown that lipoprotein(a) [Lp(a)] is a risk factor for cardiovascular disease (CVD). Lp(a) levels are also strongly genetically influenced. The purpose of this study was to evaluate the association between Lp(a) levels in adult offspring and parental CVD mortality in 61 kind...

journal_title：Clinical genetics

authors： Kim H,Marcovina SM,Edwards KL,McKnight B,Bradley CM,McNeely MJ,Psaty BM,Motulsky AG,Austin MA

更新日期：2001-09-01 00:00:00

abstract：:From a large Danish material of random families we selected families with dyslexia as reported by the families themselves and as recorded by a dyslexia institute. Among five "backcross families" studied for chromosome 15 polymorphisms we found only negative lod scores, and at theta = 0.10 a negative score of -3.42; i....

journal_title：Clinical genetics

authors： Bisgaard ML,Eiberg H,Møller N,Niebuhr E,Mohr J

更新日期：1987-08-01 00:00:00

abstract：:Partial duplications of the long arm of chromosome 3, dup(3q), are a rare but well-described condition, sharing features of Cornelia de Lange syndrome. Around two thirds of cases are derived from unbalanced translocations, whereas pure dup(3q) have rarely been reported. Here, we provide an extensive review of the lite...

journal_title：Clinical genetics

authors： Dworschak GC,Crétolle C,Hilger A,Engels H,Korsch E,Reutter H,Ludwig M

更新日期：2017-05-01 00:00:00

abstract：:The status of H-Y antigen was studied in 10 intersexual cases (three pure gonadal dysgenesis with XY genotype, three Klinefelter's syndrome, two true hermaphroditism with XX genotype, two male hermaphroditism) and in 18 normal adult subjects (nine males and nine females). In all these subjects, fluorescent staining an...

journal_title：Clinical genetics

authors： Ghosh SN,Shah PN,Gharpure HM,Athreya U

更新日期：1978-07-01 00:00:00

abstract：:Only 47 of 61 (77%) medical students were selected as sperm donors for artificial insemination. Fourteen were excluded because of family history 1, eye disorders 7, oligospermia 5, permanent structural chromosome aberration 1. ...

journal_title：Clinical genetics

authors： Czeizel A,Szentesi I,Horváth L

更新日期：1983-08-01 00:00:00

abstract：:Charcot-Marie-Tooth disease (CMT) is classified into two types, the demyelinating (CMT1) and axonal forms (CMT2). CMT2 is further subdivided by linkage analysis into eight subgroups. Recently, mutations in the MFN2 gene, which encodes the mitochondrial GTPase mitofusin 2 (Mfn2) that regulates the mitochondrial network...

journal_title：Clinical genetics

authors： Cho HJ,Sung DH,Kim BJ,Ki CS

更新日期：2007-03-01 00:00:00

abstract：:Approximately one in 500 individuals in Western population has autosomal dominant familial hypercholesterolemia due to mutations in the low-density lipoprotein receptor (LDLR) gene. Screening for these mutations is hampered by their large number, except in founder populations. We identified the breakpoint of the >15 k...

journal_title：Clinical genetics

authors： Simard LR,Viel J,Lambert M,Paradis G,Levy E,Delvin EE,Mitchell GA

更新日期：2004-03-01 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：:Second trimester amniotic fluid samples obtained transabdominally for genetic analysis not infrequently are contaminated with blood. There has been disagreement as to whether blood contamination interferes with the efficiency of culture of amniotic fluid cells for genetic diagnosis. A procedure using ammonium chloride...

journal_title：Clinical genetics

authors： Felix JS,Doherty RA

更新日期：1979-03-01 00:00:00

abstract：:We recently described a complex multisystem syndrome in which mild-moderate myopia segregated as an independent trait. A plethora of genes has been related to sporadic and familial myopia. More recently, in Chinese patients severe myopia (MYP25, OMIM:617238) has been linked to mutations in P4HA2 gene. Seven family mem...

journal_title：Clinical genetics

authors： Napolitano F,Di Iorio V,Testa F,Tirozzi A,Reccia MG,Lombardi L,Farina O,Simonelli F,Gianfrancesco F,Di Iorio G,Melone MAB,Esposito T,Sampaolo S

更新日期：2018-05-01 00:00:00

abstract：:We have detected a novel mutation in the adrenoleukodystrophy (ALD) gene in skin fibroblasts in primary culture derived from a patient suffering from the adrenocortical insufficiency-only-phenotype of ALD. This nonsense mutation (C2400T/Q672X) is the only mutation reported to date affecting exon 10. It leads to a tran...

journal_title：Clinical genetics

authors： Holzinger A,Maier E,Stöckler-Ipsiroglu S,Braun A,Roscher AA

更新日期：1998-06-01 00:00:00

abstract：:X-linked cleft palate (CPX) is caused by mutations in the gene encoding the TBX22 transcription factor and is known to exhibit phenotypic variability, usually involving either a complete, partial or submucous cleft palate, with or without ankyloglossia. This study hypothesized a possible involvement of TBX22 in a fami...

journal_title：Clinical genetics

authors： Pauws E,Peskett E,Boissin C,Hoshino A,Mengrelis K,Carta E,Abruzzo MA,Lees M,Moore GE,Erickson RP,Stanier P

更新日期：2013-04-01 00:00:00

abstract：:Complex microphthalmia is characterized by small eyes with additional abnormalities that may include anterior segment dysgenesis. While many genes are known, a genetic cause is identified in only 4-30% of microphthalmia, with the lowest rate in unilateral cases. We identified four novel pathogenic loss-of-function all...

journal_title：Clinical genetics

authors： Reis LM,Costakos D,Wheeler PG,Bardakjian T,Schneider A,Fung SSM,University of Washington Center for Mendelian Genomics.,Semina EV

更新日期：2020-12-13 00:00:00

abstract：:Multiple congenital malformations in a young girl with bilateral conductive hearing loss are described. Facial dysmorphic features include prominent supraorbital ridges, facial hypoplasia, facial asymmetry, downward-slanting palpebral fissures, high prominent nasal bridge with bifid nasal tip and a small lower jaw, an...

journal_title：Clinical genetics

authors： Kumar D,Masel JP

更新日期：1997-07-01 00:00:00

abstract：:Two siblings born to consanguineous Bedouin parents and grandparents are reported with the phenotypic features of Ehlers-Danlos Syndrome (EDS), type VI. In addition, the affected individuals have a polyneuropathy as confirmed by nerve conduction velocity, electromyographic and muscle biopsy studies. We propose that th...

journal_title：Clinical genetics

authors： Farag TI,Schimke RN

更新日期：1989-02-01 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：:We report two children, the products of a consanguineous union, who died in infancy. Both children had severe microcephaly intracranial calcification, lissencephaly and polymicrogyria. ...

journal_title：Clinical genetics

authors： Burn J,Wickramasinghe HT,Harding B,Baraitser M

更新日期：1986-08-01 00:00:00

abstract：:The aim of this study was to search for SLC40A1 mutations in iron overloaded patients, which tested negative for HFE mutations and other iron-related genes. After a careful differential diagnosis, we selected 56 patients with unexplained iron overload whose phenotype could suggest the ferroportin disease. Iron overloa...

journal_title：Clinical genetics

authors： Pelucchi S,Mariani R,Salvioni A,Bonfadini S,Riva A,Bertola F,Trombini P,Piperno A

更新日期：2008-02-01 00:00:00

abstract：:Clinical, cytogenetic, and immunological data of a 5-year-old Japanese girl with Bloom's syndrome are described. Growth deficiency, photosensitivity, and a very mild facial telangiectatic erythema were present. Cytological studies revealed chromosomal aberrations and the characteristic high frequency in sister chromat...

journal_title：Clinical genetics

authors： Kawashima H,Sato T,Taniguchi N,Yagi T,Ishizaki K,Takebe H

更新日期：1980-02-01 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：:The first appearance of an autosomal dominant disease in a family is often attributed to new mutation, and the parents may be given a very low risk of recurrence for future offspring. This counseling is not appropriate if penetrance of the disease is incomplete and the reproductive fitness of affected individuals is c...

journal_title：Clinical genetics

authors： Friedman JM

更新日期：1985-01-01 00:00:00

abstract：:Neurofibromatosis 2 (NF2) is caused by mutations in the NF2 gene predisposing carriers to develop nervous system tumours. Different NF2 mutations result in either loss/reduced protein function or gain of protein function (abnormally behaving mutant allele i.e. truncated protein potentially causing dominant negative ef...

journal_title：Clinical genetics

authors： Selvanathan SK,Shenton A,Ferner R,Wallace AJ,Huson SM,Ramsden RT,Evans DG

更新日期：2010-02-01 00:00:00

abstract：:Disorders of the Ras/mitogen-activated protein kinase (MAPK) pathway have an overlapping skeletal phenotype (e.g. scoliosis, osteopenia). The Ras proteins regulate cell proliferation and differentiation and neurofibromatosis type 1 (NF1) individuals have osteoclast hyperactivity and increased bone resorption as measur...

journal_title：Clinical genetics

authors： Stevenson DA,Schwarz EL,Carey JC,Viskochil DH,Hanson H,Bauer S,Weng HY,Greene T,Reinker K,Swensen J,Chan RJ,Yang FC,Senbanjo L,Yang Z,Mao R,Pasquali M

更新日期：2011-12-01 00:00:00

abstract：:A large 15p + chromosome with a whole heterochromatic short arm has been studied by means of different banding techniques in six of nine individuals of a family; a possible Y/15 translocation has been excluded. Furthermore a heteromorphic pair 9 has been observed in seven family members, representing a "possible" smal...

journal_title：Clinical genetics

authors： Werner W,Herrmann FH

更新日期：1984-09-01 00:00:00