Molecular analysis of 30 Niemann-Pick type C patients from Spain.

abstract：:In an epidemiological study, infants identified at birth as having sex chromosome anomalies are enrolled in a voluntary, long term evaluations program. Case histories are presented of the first four boys in the series to have a 47,XXY karyotype. They have been followed from birth for 6 to 9 years, with physical and ps...

journal_title：Clinical genetics

authors： Puck M,Tennes K,Frankenburg W,Bryant K,Robinson A

更新日期：1975-01-01 00:00:00

abstract：:Important insights in the process of genetic counseling can be provided by establishing levels of satisfaction. The aim of our study was to compare counselees' and counselors' satisfaction with the initial consultation in reproductive genetic counseling and to gain insight into the factors associated with their conten...

journal_title：Clinical genetics

authors： Aalfs CM,Oort FJ,de Haes JC,Leschot NJ,Smets EM

更新日期：2007-08-01 00:00:00

abstract：:A case of Fanconi anemia with terminal acute leukemia is reported. Clones with chromosome abnormalities were observed in bone marrow cells. The patterns of marker chromosome distribution in these clones suggests the occurrence of a somatic segregation mechanism. ...

journal_title：Clinical genetics

authors： Berger R,Bussel A,Schenmetzler C

更新日期：1977-06-01 00:00:00

abstract：:Uncertainty is a challenging aspect of caring for children with Duchenne/Becker muscular dystrophies (DBMD). Although uncertainty is often perceived as a state to be avoided, hope may influence caregivers' perceptions of uncertainty as opportunity. The goal of this cross-sectional quantitative study was to pilot a nov...

journal_title：Clinical genetics

authors： Bell M,Biesecker BB,Bodurtha J,Peay HL

更新日期：2019-06-01 00:00:00

abstract：:A family is reported in which Sanfilippo A syndrome affected three siblings: the proband and twin premature infants. The feasibility of intrauterine diagnosis of mucopolysaccharidoses (MPS) Type IIIA, was demonstrated by the excessive accumulation of 35SO4-mucopolysaccharides in fibroblasts cultured from amniotic flui...

journal_title：Clinical genetics

authors： Greenwood RS,Hillman RE,Alcala H,Sly WS

更新日期：1978-03-01 00:00:00

abstract：:Synostoses of the carpals and metacarpals with oligodactyly were noted in a man whose brother was similarly affected. Since the proband's two children are normal, autosomal recessive transmission is probable. Although abnormalities of the feet, and particularly radioulnar synostosis, are lacking, this malformation is ...

journal_title：Clinical genetics

authors： Pfeiffer RA,Meisel-Stosiek M

更新日期：1982-01-01 00:00:00

abstract：:A 6-year-old boy presented with recurrent coma associated with hyperammonemia and infection is reported. A liver biopsy revealed decreased ornithine transcarbamylase (OTC) activity (16% of normal). The enzymatic abnormality in the child is supported by the finding of elevated orotic acid excretion in his mother follow...

journal_title：Clinical genetics

authors： Oizumi J,Ng WG,Koch R,Shaw KN,Sweetman L,Velazquez A,Donnell GN

更新日期：1984-06-01 00:00:00

abstract：:A girl in whom a ring chromosome 13 was found, presented with microcephaly, mental retardation and multiple minor malformations. She was born after a full term pregnancy, small for date and with a small head circumference. She underwent craniotomy at the age of 18 months because of premature closure of the metopic sut...

journal_title：Clinical genetics

authors： Fried K,Rosenblatt M,Mundel G,Krikler R

更新日期：1975-03-01 00:00:00

abstract：:A familial autosomal recessive form of isolated renal magnesium loss is presented. Two children in this family suffered from convulsions unrelated to hypomagnesemia. Magnesium infusion studies revealed a lowered threshold but a normal tubular maximum for magnesium. In contrast to two families with the autosomal domina...

journal_title：Clinical genetics

authors： Geven WB,Monnens LA,Willems JL,Buijs W,Hamel CJ

更新日期：1987-12-01 00:00:00

abstract：:In a study of xanthomatosis in the county of Ostfold, Norway (approximately 220,000 inhabitants), it was found that 20% (37 out of 185) of the probands belonges to seven large kindreds where xanthomatosis and hyper-beta-lipoproteinaemia segregated. Almost complete ascertainment (99%) of living subjects in the sibships...

journal_title：Clinical genetics

authors： Heiberg A

更新日期：1976-01-01 00:00:00

abstract：:The disorders caused by mutations in genes encoding subunits and accessory proteins of cohesin complex are collectively termed as cohesinopathies. The best known cohesinopathy is Cornelia de Lange Syndrome (CdLS), which is a multisystem developmental disorder characterized by facial dysmorphism, limb malformations, gr...

journal_title：Clinical genetics

authors： Baquero-Montoya C,Gil-Rodríguez MC,Teresa-Rodrigo ME,Hernández-Marcos M,Bueno-Lozano G,Bueno-Martínez I,Remeseiro S,Fernández-Hernández R,Bassecourt-Serra M,Rodríguez de Alba M,Queralt E,Losada A,Puisac B,Ramos FJ,Pié J

更新日期：2014-05-01 00:00:00

abstract：:Whole exome sequencing and chromosomal microarrays are two powerful technologies that have transformed the ability of researchers to search for potentially causal variants in human disease. This study combines these tools to search for causal variants in a patient found to have maternal uniparental isodisomy of chromo...

journal_title：Clinical genetics

authors： Carmichael H,Shen Y,Nguyen TT,Hirschhorn JN,Dauber A

更新日期：2013-09-01 00:00:00

abstract：:Atypical or variant forms of well-known chondrodysplasias may pose diagnostic problems. We report on a girl with clinical features suggesting diastrophic dysplasia but with unusual radiographic features including severe platyspondyly, wide metaphyses, and fibular overgrowth, which are partially reminiscent of metatrop...

journal_title：Clinical genetics

authors： Mégarbané A,Haddad FA,Haddad-Zebouni S,Achram M,Eich G,Le Merrer M,Superti-Furga A

更新日期：1999-07-01 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：:A variety of studies has linked vasoactive intestinal peptide (VIP) to idiopathic pulmonary arterial hypertension (IPAH). In this study, we investigated the correlation between VIP gene variants and IPAH in Chinese population. A total of 81 consecutive unrelated patients diagnosed as IPAH from 2006 to 2008 and 250 con...

journal_title：Clinical genetics

authors： Zhang Y,Zhang JQ,Liu ZH,Xiong CM,Ni XH,Hui RT,He JG,Pu JL

更新日期：2009-06-01 00:00:00

abstract：:Hereditary hydronephrosis is a rare condition but several families are described in the literature. The inheritance pattern is autosomal dominant (McKusick number 143400) but the exact aetiology of the hydronephrosis is not clear. However, linkage with the HLA region on chromosome six has been shown previously. We rep...

journal_title：Clinical genetics

authors： McHale D,Porteous ME,Wentzel J,Burn J

更新日期：1996-12-01 00:00:00

abstract：BACKGROUND:For clinical genetic testing of cardiomyopathy (CMP), current guidelines do not address which gene panels to use: targeted panels specific to a CMP phenotype or expanded (panCMP) panels that include genes associated with multiple phenotypic subtypes. AIM:Our objective was to assess the clinical utility of t...

journal_title：Clinical genetics

authors： Ouellette AC,Mathew J,Manickaraj AK,Manase G,Zahavich L,Wilson J,George K,Benson L,Bowdin S,Mital S

更新日期：2018-01-01 00:00:00

abstract：:A female infant with multiple dysmorphic features and developmental delay was found to have partial duplication of the long arm of chromosome 2 and partial deletion of the long arm of chromosome 11 derived from a paternal balanced translocation, 46,XY,t(2;11)(q33:q25). Clinically, the infant had features of both 2q+ a...

journal_title：Clinical genetics

authors： Ardinger HH,Patil SR,Rhead WJ

更新日期：1987-06-01 00:00:00

abstract：:RUNX2 (Runt-related transcription factor 2) is a master regulator of osteoblast differentiation, cartilage and bone development. Pathogenic variants in RUNX2 have been linked to the Cleidocranial dysplasia (CCD), which is characterized by hypoplasia or aplasia of clavicles, delayed fontanelle closure, and dental anoma...

journal_title：Clinical genetics

authors： Hordyjewska-Kowalczyk E,Sowińska-Seidler A,Olech EM,Socha M,Glazar R,Kruczek A,Latos-Bieleńska A,Tylzanowski P,Jamsheer A

更新日期：2019-11-01 00:00:00

abstract：:Long non-coding RNAs (lncRNAs), a class of long RNAs, are longer than 200 nucleotides in length but lack protein-coding capacity. LncRNAs, as critical genomic regulators, are involved in genomic imprinting regulation, histone modification and gene expression regulation as well as tumor initiation and progression. Howe...

journal_title：Clinical genetics

authors： Zhang HD,Jiang LH,Zhong SL,Li J,Sun DW,Hou JC,Wang DD,Zhou SY,Tang JH

更新日期：2021-01-01 00:00:00

abstract：:We report here the clinical, genetic, and molecular characteristics of a large Chinese family exhibiting non-syndromic, late-onset autosomal dominant sensorineural hearing loss. Clinical evaluation revealed variable phenotypes of hearing loss in terms of severity and age-at-onset of disease in these subjects. Genome-w...

journal_title：Clinical genetics

authors： Cheng J,Han DY,Dai P,Sun HJ,Tao R,Sun Q,Yan D,Qin W,Wang HY,Ouyang XM,Yang SZ,Cao JY,Feng GY,Du LL,Zhang YZ,Zhai SQ,Yang WY,Liu XZ,He L,Yuan HJ

更新日期：2007-11-01 00:00:00

abstract：:We investigated the clinical, laboratory, and genetic spectra in Korean patients with dysferlinopathy to clarify its genotype-phenotype correlation. We retrospectively reviewed 101 patients from 96 unrelated families with pathogenic variants of DYSF. The most common initial phenotype was Miyoshi myopathy in 50 patient...

journal_title：Clinical genetics

authors： Park HJ,Hong YB,Hong JM,Yun UK,Kim SW,Shin HY,Kim SM,Choi YC

更新日期：2020-11-20 00:00:00

abstract：:Plasma lipid and serum apoprotein concentrations were determined in twenty-nine individuals with Gaucher type I disease. Plasma total cholesterol, low density lipoprotein (LDL) cholesterol and high density lipoprotein (HDL) cholesterol were all significantly reduced in the patients with Gaucher disease compared to a g...

journal_title：Clinical genetics

authors： Ginsberg H,Grabowski GA,Gibson JC,Fagerstrom R,Goldblatt J,Gilbert HS,Desnick RJ

更新日期：1984-08-01 00:00:00

abstract：:Mutations in the genes FBN1, TGFBR1, and TGFBR2 can result in heritable connective tissue disorders comprising the Marfan syndrome and the Loeys-Dietz syndrome. Dural ectasia is a characteristic manifestation of both syndromes. However, dural ectasia has not yet been investigated in connective tissue disorders that ar...

journal_title：Clinical genetics

authors： Sheikhzadeh S,Rybczynski M,Habermann CR,Bernhardt AM,Arslan-Kirchner M,Keyser B,Kaemmerer H,Mir TS,Staebler A,Oezdal N,Robinson PN,Berger J,Meinertz T,von Kodolitsch Y

更新日期：2011-06-01 00:00:00

abstract：:In the rare developmental disorder Roberts' syndrome, prophase and metaphase chromosomes display premature sister-chromatid separation, most prominently at certain regions in which the chromatin is composed of highly reiterated base sequences. In addition, interphase nuclei present a striking distortion in their conto...

journal_title：Clinical genetics

authors： German J

更新日期：1979-12-01 00:00:00

abstract：:Peeling skin disease (PSD) is an autosomal recessive skin disorder caused by mutations in CDSN and is characterized by superficial peeling of the upper epidermis. Corneodesmosin (CDSN) is a major component of corneodesmosomes that plays an important role in maintaining epidermis integrity. Herein, we report a patient ...

journal_title：Clinical genetics

authors： Wada T,Matsuda Y,Muraoka M,Toma T,Takehara K,Fujimoto M,Yachie A

更新日期：2014-10-01 00:00:00

abstract：:A report is made on a rare isodicentric chromosome 18 in an abnormal male infant whose karyotype was 46,XY,idic(18)(p11.31----qter), confirmed by in situ hybridization using non-radioactive biotin-labelled 18 probe. His clinical features were similar to 18 trisomy syndrome. The literature concerning isochromosome 18 i...

journal_title：Clinical genetics

authors： Meguid NA,Habibian R

更新日期：1992-05-01 00:00:00

abstract：:Single nucleotide polymorphisms (SNPs) are genetic variations that contribute to human phenotypes associated with various diseases. SNPs are involved in the regulation of a broad range of physiological and pathological processes, such as cellular senescence, apoptosis, inflammation, and immune response, by upregulatin...

journal_title：Clinical genetics

authors： Liu X,Han Z,Yang C

更新日期：2017-09-01 00:00:00

abstract：:Hunter syndrome or mucopolysaccharidosis type II (MPSII) is caused by pathogenic variants in the IDS gene. This is the first study that examines the mutational spectrum in 25 unrelated Mexican MPSII families. The responsible genotype was identified in 96% of the families (24/25) with 10 novel pathogenic variants: c.13...

journal_title：Clinical genetics

authors： Alcántara-Ortigoza MA,García-de Teresa B,González-Del Angel A,Berumen J,Guardado-Estrada M,Fernández-Hernández L,Navarrete-Martínez JI,Maza-Morales M,Rius-Domínguez R

更新日期：2016-05-01 00:00:00

abstract：:In order to investigate the interdependent action of the insertion/deletion polymorphism of the angiotensin-converting enzyme (ACE) gene and polymorphism in exon 11 (C1136-->T; Ala379Val) of the platelet-activating factor acetylhydrolase (PAF-AH) gene, which encodes a functional antagonist of PAF, on the progression o...

journal_title：Clinical genetics

authors： Yoon HJ,Kim H,Kim HL,Lee SG,Zheng SH,Shin JH,Lim CS,Kim S,Lee JS,Lee DS,Kim YS

更新日期：2002-08-01 00:00:00