Genital anomaly and cardiomyopathy: a new syndrome.

abstract：:Crisponi/cold-induced sweating syndrome (CS/CISS) is a rare autosomal recessive disorder characterized by a complex phenotype (hyperthermia and feeding difficulties in the neonatal period, followed by scoliosis and paradoxical sweating induced by cold since early childhood) and a high neonatal lethality. CS/CISS is a ...

journal_title：Clinical genetics

authors： Angius A,Uva P,Oppo M,Buers I,Persico I,Onano S,Cuccuru G,Van Allen MI,Hulait G,Aubertin G,Muntoni F,Fry AE,Annerén G,Stattin EL,Palomares-Bralo M,Santos-Simarro F,Cucca F,Crisponi G,Rutsch F,Crisponi L

更新日期：2019-05-01 00:00:00

abstract：:In whole-exome sequencing (WES), target capture methods are used to enrich the sequences of the coding regions of genes from fragmented total genomic DNA, followed by massively parallel, 'next-generation' sequencing of the captured fragments. Since its introduction in 2009, WES has been successfully used in several di...

journal_title：Clinical genetics

authors： Robinson PN,Krawitz P,Mundlos S

更新日期：2011-08-01 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：:Autosomal dominant polycystic kidney disease (ADPKD) usually becomes symptomatic between the third and fifth decades. We studied ten families segregating for ADPKD in which children were observed with typical manifestations of the disease at birth or in early childhood. In these families, linkage analysis was carried ...

journal_title：Clinical genetics

authors： Gal A,Wirth B,Kääriäinen H,Lucotte G,Landais P,Gillessen-Kaesbach G,Müller-Wiefel DE,Zerres K

更新日期：1989-01-01 00:00:00

abstract：:Germline mutations in succinate dehydrogenase B (SDHB) predispose to hereditary paraganglioma (PGL) syndrome type 4. The risk of developing PGL or pheochromocytoma (PHEO) in SDHB mutation carriers is subject of recent debate. In the present nationwide cohort study of SDHB mutation carriers identified by the clinical g...

journal_title：Clinical genetics

authors： Rijken JA,Niemeijer ND,Jonker MA,Eijkelenkamp K,Jansen JC,van Berkel A,Timmers HJLM,Kunst HPM,Bisschop PHLT,Kerstens MN,Dreijerink KMA,van Dooren MF,van der Horst-Schrivers ANA,Hes FJ,Leemans CR,Corssmit EPM,Hensen EF

更新日期：2018-01-01 00:00:00

abstract：:Cutis laxa is characterised by redundant, inelastic skin with deep wrinkling and additional variable systemic involvement. Mutations in fibulin-4 (EFEMP2) and fibulin-5 (FBLN5) were described to be causative for autosomal recessive cutis laxa type 1 in a few families each. The female patient was born to healthy consan...

journal_title：Clinical genetics

authors： Hoyer J,Kraus C,Hammersen G,Geppert JP,Rauch A

更新日期：2009-09-01 00:00:00

abstract：:Amniocentesis for advanced maternal age resulted in the demonstration of a supernumerary microchromosome in the amniotic fluid cells. Cytogenetic analysis of peripheral blood from the female infant revealed a mosaic karyotype 46,XX/47,XX, + marker. The only anomaly noted in the infant was talipes equinovarus. ...

journal_title：Clinical genetics

authors： Muneer RS,Himes JR,Payne-Howell RM,Thompson LM,Rennert OM

更新日期：1984-11-01 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：:Linear growth failure can be caused by many different genetic abnormalities. In many cases, the genetic defect affects not only the growth plate, causing short stature but also other organs/tissues causing additional clinical abnormalities. A 10-year old boy was evaluated for impaired postnatal linear growth (height 1...

journal_title：Clinical genetics

authors： Jee YH,Sowada N,Markello TC,Rezvani I,Borck G,Baron J

更新日期：2017-05-01 00:00:00

abstract：:In a clinical setting diagnosis, heritability, risk and outcome of human disease rely heavily on the use of markers present in specific tissues. In the past decade, the development of genome-wide, non-hypothesis driven methods to identify molecular markers associated with disease have led to the discovery of numerous ...

journal_title：Clinical genetics

authors： Zaina S,Lund G

更新日期：2012-04-01 00:00:00

abstract：:We have observed a 49 bp tandem duplication adjacent to the triplet repeat of the FMR1 gene and have shown it to occur as a variant in Finland. It affects the primers commonly used in molecular analysis of fragile X syndrome by polymerase chain reaction (PCR) methods. One concern is that females with the full mutation...

journal_title：Clinical genetics

authors： Mononen T,von Koskull H,Airaksinen RL,Juvonen V

更新日期：2007-12-01 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：: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：:Mutations in the L1CAM gene cause neurological abnormalities of variable severity, including congenital hydrocephalus, agenesis of the corpus callosum, spastic paraplegia, bilaterally adducted thumbs, aphasia, and mental retardation. Inter- and intrafamilial variability is a well-known feature of the L1CAM spectrum, a...

journal_title：Clinical genetics

authors： Basel-Vanagaite L,Straussberg R,Friez MJ,Inbar D,Korenreich L,Shohat M,Schwartz CE

更新日期：2006-05-01 00:00:00

abstract：:A cytogenetic survey of an unselected group of mentally retarded persons in a geographically limited area was made in order to establish the frequency of chromosome abnormalities within this group. In the area there were 2,157 patients, both institutionalized and living at home. A chromosome analysis was performed in ...

journal_title：Clinical genetics

authors： Rasmussen K,Nielsen J,Dahl G

更新日期：1982-11-01 00:00:00

abstract：:Most microdeletion syndromes identified before the implementation of array-comparative genomic hybridization (array-CGH) were presumed to be well-defined clinical entities. However, the introduction of whole-genome screening led not only to the description of new syndromes but also to the recognition of a broader spec...

journal_title：Clinical genetics

authors： Mosca-Boidron AL,Bouquillon S,Faivre L,Callier P,Andrieux J,Marle N,Bonnet C,Vincent-Delorme C,Berri M,Plessis G,Manouvrier-Hanu S,Dieux-Coeslier A,Thauvin-Robinet C,Pipiras E,Delahaye A,Payet M,Ragon C,Masurel-Paulet A

更新日期：2012-07-01 00:00:00

abstract：:Kyphomelic dysplasia is a rare form of generalized skeletal dysplasia with about 15 cases described so far in the literature. We present the clinical, radiological, and pathological findings of an antenatally detected female fetus affected with this disorder. The differential diagnoses of prenatal and perinatal semile...

journal_title：Clinical genetics

authors： Prasad C,Cramer BC,Pushpanathan C,Crowley MC,Ives EJ

更新日期：2000-11-01 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：:We describe a pedigree in which four male members are affected by a contiguous gene abnormality involving the short arm of the X chromosome (Xp22.32). Bivariate flow cytometry of lymphoblastoid cell lines from two of these individuals and a normal male showed a 6-7 megabase deletion in affected males, and high resolut...

journal_title：Clinical genetics

authors： Bouloux PM,Kirk J,Munroe P,Duke V,Meindl A,Hilson A,Grant D,Carter N,Betts D,Meitinger T

更新日期：1993-04-01 00:00:00

abstract：:Two patients are reported who presented with 4q deletion and r(4), respectively. Cytogenetic and FISH analysis defined the breakpoints respectively at bands 4q33-->q35 proximal to the telomere, and 4pter and 4q35.2 qter. Moreover in both cases rearranged chromosomes maintained telomeric sequences. The first patient sh...

journal_title：Clinical genetics

authors： Calabrese G,Giannotti A,Mingarelli R,Di Gilio MC,Piemontese MR,Palka G

更新日期：1997-04-01 00:00:00

abstract：:One hundred and eighty-one male and 48 female myocardial infarction (MI) survivors and 172 male and 194 female controls were studied with respect to a possible association between premature parental MI (before age 61 years in mothers and/or before age 56 years in fathers) and an insertion/deletion (I/D) polymorphism i...

journal_title：Clinical genetics

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

更新日期：1993-12-01 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：:Based on current consensus guidelines and standard practice, many genetic variants detected in clinical testing are classified as disease causing based on their predicted impact on the normal expression or function of the gene in the absence of additional data. However, our laboratory has identified a subset of such v...

journal_title：Clinical genetics

authors： Rosenthal ET,Bowles KR,Pruss D,van Kan A,Vail PJ,McElroy H,Wenstrup RJ

更新日期：2015-12-01 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：:SATB2-associated syndrome (SAS) is a recently identified disorder characterized by neurodevelopmental deficits and craniofacial anomalies. Assessments of speech, language, and feeding-related issues were conducted among 61 individuals with SAS (median age = 86 months, range = 26 months to 29 years of age). Individuals...

journal_title：Clinical genetics

authors： Thomason A,Pankey E,Nutt B,Caffrey AR,Zarate YA

更新日期：2019-12-01 00:00:00

abstract：:Social stigmatization can disrupt the ability of individuals with genetic conditions to successfully adapt to their situation. We offer data on perceptions of stigma from a cross-sectional survey of 174 adults with Marfan syndrome by self-report. Fifty-six respondents (32%) reported feeling discriminated against or so...

journal_title：Clinical genetics

authors： Peters K,Apse K,Blackford A,McHugh B,Michalic D,Biesecker B

更新日期：2005-07-01 00:00:00

abstract：:A low arylsulphatase A activity was noted in the leukocytes and cultured skin fibroblasts of a child without any other symptoms of metachromatic leukodystrophy. Although the mother had a level of arylsulphatase commensurate with heterozygosity for the classical metachromatic leukodystrophy gene, the father had a vari...

journal_title：Clinical genetics

authors： Butterworth J,Broadhead DM,Keay AJ

更新日期：1978-10-01 00:00:00

abstract：:46,XY gonadal dysgenesis was transmitted as an autosomal-dominant trait in a large family with multiple affected members. Expressivity of the trait was highly variable, ranging from pure to partial gonadal dysgenesis associated with normal female genitalia or sexual ambiguity, to mild hypospadias in otherwise normal m...

journal_title：Clinical genetics

authors： Jawaheer D,Juo SH,Le Caignec C,David A,Petit C,Gregersen P,Dowbak S,Damle A,McElreavey K,Ostrer H

更新日期：2003-06-01 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：:A new modification of currently utilized methods of processing cell cultures of whole peripheral blood for obtaining chromosome preparations necessary for differential staining (Q, G and C) is proposed. After the usual hypotonic treatment of cultures, a 3%-5% aquaeous solution of glacial acetic acid is added to the ce...

journal_title：Clinical genetics

authors： Ibraimov AI

更新日期：1983-10-01 00:00:00