Tuberous sclerosis and the relation with renal angiomyolipoma. A genetic study on the clinical aspects.

abstract：:Successful fertilization is fundamental for sexual reproduction. After undergoing a series of molecular and morphological changes, the haploid sperm fuses with the haploid oocyte to create a diploid zygote. Defects in this process might lead to human fertilization failure. We have previously found homozygous mutations...

journal_title：Clinical genetics

authors： Zhang Z,Mu J,Zhao J,Zhou Z,Chen B,Wu L,Yan Z,Wang W,Zhao L,Dong J,Sun X,Kuang Y,Li B,Wang L,Sang Q

更新日期：2019-04-01 00:00:00

abstract：:For many years, a considerable number of patients with autoimmune diseases (ADs) have suffered from a lack of drug response and drug-related toxicity. Despite the emergence of new therapeutic options such as biological agents, patients continue to struggle with these problems. Unfortunately, new challenges, including ...

journal_title：Clinical genetics

authors： Tavakolpour S,Darvishi M,Ghasemiadl M

更新日期：2018-03-01 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：:Erythropoietic protoporphyria (EPP) is a rare cutaneous and systemic disease caused by mutations in the ferrochelatase gene (FECH). The molecular underpinnings of EPP in Middle Eastern populations and relative to other ethnic groups secondary to increased consanguinity are unknown. To understand the molecular pathogen...

journal_title：Clinical genetics

authors： Kadara H,Nemer G,Safi R,Rebeiz N,Daou L,Delbani D,Btadini W,Abbas O,Tofaili M,Bitar F,Kibbi AG,Shimomura Y,Kurban M

更新日期：2017-11-01 00:00:00

abstract：:X-linked mental retardation (MR) associated with a fragile X chromosome was found in two Swedish families. The fragile X chromosome was demonstrated in 5/5 boys with mental retardation. Clinical data on four of these boys are presented. In one of the families, the mental retardation was associated with macro-orchidism...

journal_title：Clinical genetics

authors： Gustavson KH,Holmgren G,Blomquist HK,Mikkelsen M,Nordenson I,Poulsen H,Tommerup N

更新日期：1981-02-01 00:00:00

abstract：:Adenosine diphosphate (ADP)-ribosylation factor-like 2 (ARL2) protein participates in a broad range of cellular processes and acts as a mediator for mutant ARL2BP in cilium-associated retinitis pigmentosa and for mutant HRG4 in mitochondria-related photoreceptor degeneration. However, mutant ARL2 has not been linked t...

journal_title：Clinical genetics

authors： Cai XB,Wu KC,Zhang X,Lv JN,Jin GH,Xiang L,Chen J,Huang XF,Pan D,Lu B,Lu F,Qu J,Jin ZB

更新日期：2019-07-01 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：:Approximately one in three individuals will be affected by cancer in their lifetime in the United States, and some are at elevated risk because of family history. Although assessment of family history of cancer and cancer risk is the standard of care, the current health-care system appears unable to meet this need. Be...

journal_title：Clinical genetics

authors： Kelly KM,Sweet K

更新日期：2007-01-01 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：:Three siblings of Indian stock had profound bilateral conductive deafness with variable malformations of the external ears, stapedial abnormalities and facial paralysis. Their mother was similarly affected and inheritance of this private syndrome is evidently autosomal dominant. Some improvement of auditory function w...

journal_title：Clinical genetics

authors： Sellars S,Beighton P

更新日期：1983-05-01 00:00:00

abstract：:The 13 subtypes of oral-facial-digital syndrome (OFDS) belong to the heterogeneous group of ciliopathies. Disease-causing genes encode for centrosomal proteins, components of the transition zone or proteins implicated in ciliary signaling. A unique consanguineous family presenting with an unclassified OFDS with skelet...

journal_title：Clinical genetics

authors： Thevenon J,Duplomb L,Phadke S,Eguether T,Saunier A,Avila M,Carmignac V,Bruel AL,St-Onge J,Duffourd Y,Pazour GJ,Franco B,Attie-Bitach T,Masurel-Paulet A,Rivière JB,Cormier-Daire V,Philippe C,Faivre L,Thauvin-Robinet C

更新日期：2016-12-01 00:00:00

abstract：:Over the past few years, we have conducted a systematic study of 230 cystic fibrosis (CF) chromosomes in the Saguenay Lac-Saint-Jean (SLSJ) population which has a high CF incidence (1/936 live births). We identified 11 mutations accounting for 100% of the CF chromosomes found in patients born in SLSJ. Our results indi...

journal_title：Clinical genetics

authors： De Braekeleer M,Mari C,Verlingue C,Allard C,Leblanc JP,Simard F,Aubin G,Férec C

更新日期：1998-01-01 00:00:00

abstract：:In a Danish family highly susceptible to ischemic heart disease, hyperlipidemia did not simply cosegregate with a previously undescribed 10 bp deletion in the LDL receptor gene causing heterozygous familial hypercholesterolemia (FH). This mutation, designated as FH DK-4, deletes 10 nucleotides from exon 4 coding for t...

journal_title：Clinical genetics

authors： Jensen HK,Hansen PS,Jensen LG,Kristensen MJ,Klausen IC,Kjeldsen M,Lemming L,Bolund L,Gregersen N,Faergeman O

更新日期：1995-07-01 00:00:00

abstract：:The interaction between the lipoprotein carrying the Lp(a) antigen, i.e. the Lp(a) lipoprotein, and agarose gels substituted with glycosaminoglycans, as well as the precipitation of the Lp(a) lipoprotein by Ca++ were studied. Comparisons between Lp(a) lipoprotein and other serum lipoproteins were conducted. Very low d...

journal_title：Clinical genetics

authors： Ericson C,Dahlén G,Berg K

更新日期：1977-06-01 00:00:00

abstract：:Molecular testing of patients with autosomal dominant hypercholesterolemia (ADH) fails to detect a causal functional mutation in 15.25% of subjects. We studied an ADH pedigree in which known ADH-causing genes (LDLR, APOB and PCSK9) were excluded. Genome-wide analysis on 15 family members detected significant associati...

journal_title：Clinical genetics

authors： Cenarro A,García-Otín AL,Tejedor MT,Solanas M,Jarauta E,Junquera C,Ros E,Mozas P,Puzo J,Pocoví M,Civeira F

更新日期：2011-05-01 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：:Hereditary non-polyposis colorectal cancer (HNPCC), the most common type of hereditary colorectal cancer, is thought to be a simple Mendelian disease involving DNA mismatch repair genes. The majority of mutations associated with HNPCC occur in the hMSH2 and hMLH1 genes. The reported incidence of mismatch repair gene m...

journal_title：Clinical genetics

authors： Wei SC,Yu CY,Tsai-Wu JJ,Su YN,Sheu JC,Wu CH,Wang CY,Wong JM

更新日期：2003-09-01 00:00:00

abstract：:Recently, bi-allelic mutations in cytosolic isoleucyl-tRNA synthetase (IARS) have been described in three individuals with growth delay, hepatic dysfunction, and neurodevelopmental disabilities. Here we report an additional subject with this condition identified by whole-exome sequencing. Our findings support the asso...

journal_title：Clinical genetics

authors： Orenstein N,Weiss K,Oprescu SN,Shapira R,Kidron D,Vanagaite-Basel L,Antonellis A,Muenke M

更新日期：2017-06-01 00:00:00

abstract：:Analysis of data from 56,664 marriages in Turkey studied from 1970 to 1988 showed an overall rate of consanguineous marriages, of 21.25%, and increases in the rates of abortions, stillbirths, prenatal losses and neonatal deaths. ...

journal_title：Clinical genetics

authors： Başaran N,Hassa H,Başaran A,Artan S,Stevenson JD,Sayli BS

更新日期：1989-09-01 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：:Pathogenic MAGEL2 variants result in the phenotypes of Chitayat-Hall syndrome (CHS), Schaaf-Yang syndrome (SYS) and Prader-Willi syndrome (PWS). We present five patients with mutations in MAGEL2, including the first patient reported with a missense variant, adding to the limited literature. Further, we performed a sys...

journal_title：Clinical genetics

authors： Patak J,Gilfert J,Byler M,Neerukonda V,Thiffault I,Cross L,Amudhavalli S,Pacio-Miguez M,Palomares-Bralo M,Garcia-Minaur S,Santos-Simarro F,Powis Z,Alcaraz W,Tang S,Jurgens J,Barry B,England E,Engle E,Hess J,Lebel RR

更新日期：2019-12-01 00:00:00

abstract：:Congenital aniridia is due to deletions and point mutations in the PAX6 gene. We describe here a case of a mother and her two sons with a syndrome comprising congenital aniridia, ptosis, and slight mental retardation. The sons also show behavioral changes. The possibility of deletion around the PAX6 locus was excluded...

journal_title：Clinical genetics

authors： Malandrini A,Mari F,Palmeri S,Gambelli S,Berti G,Bruttini M,Bardelli AM,Williamson K,van Heyningen V,Renieri A

更新日期：2001-08-01 00:00:00

abstract：:Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS) are two congenital disorders with opposite outcomes on fetal growth, overgrowth and growth restriction, respectively. Although both disorders are heterogeneous, most cases of BWS and SRS are associated with opposite epigenetic or genetic abnormalities...

journal_title：Clinical genetics

authors： Jacob KJ,Robinson WP,Lefebvre L

更新日期：2013-10-01 00:00:00

abstract：:The advent of whole-exome next-generation sequencing (WES) has been pivotal for the molecular characterization of Mendelian disease; however, the clinical applicability of WES has remained relatively unexplored. We describe our exploration of WES as a diagnostic tool in a 3½-year old female patient with a 2-year histo...

journal_title：Clinical genetics

authors： Hanchard NA,Murdock DR,Magoulas PL,Bainbridge M,Muzny D,Wu Y,Wang M,Lupski JR,Gibbs RA,Brown CW

更新日期：2013-05-01 00:00:00

abstract：:A four generation family with postaxial polydactyly of hands and feet and dental anomalies is reported. Lower and upper incisors were abnormal in shape and number. Additional findings were prominent ear anthelices, hypoplastic and dysplastic nails and mild shortness of stature. Inheritance was dominant with variable e...

journal_title：Clinical genetics

authors： Roubicek M,Spranger J

更新日期：1984-12-01 00:00:00

abstract：:Below-the-knee right leg hypoplasia and ipsilateral toe brachysyndactyly were observed in a 4-year-old female with an otherwise normal phenotype. Electromyographic and nerve conduction studies were normal. The Doppler evaluation was consistent with a 50% reduction in the blood supply from the femoral artery, suggestin...

journal_title：Clinical genetics

authors： Silengo M,Lerone M,Seri M,Boffi P

更新日期：1999-01-01 00:00:00

abstract：:On the fifth day after subcultivation,, fibroblasts of two unrelated patients with adrenoleukodystrophy (Siemerling-Creutzfeldt disease (SCD)) developed typical morphologic anomalies which could be seen by light microscopy. From skin biopsy material of an obligatorily heterozygous womam, both normal and morphologicall...

journal_title：Clinical genetics

authors： Ropers HH,Zimmermann J,Wienker T

更新日期：1977-02-01 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：:Female heterozygotes for the fragile X syndrome show variable levels of mental handicap from normal to severely retarded. The degree to which they are affected may depend upon whether the fragile or the normal X chromosome is preferentially inactivated, but one of the problems with the use of BUdR for the study of Lyo...

journal_title：Clinical genetics

authors： Tuckerman E,Webb T

更新日期：1989-07-01 00:00:00

abstract：:Mowat-Wilson syndrome (MWS) is an autosomal dominant developmental disorder with mental retardation and variable multiple congenital abnormalities due to mutations of the ZEB2 (ZFHX1B) gene at 2q22. MWS was first described in 1998 and the causative gene was delineated in 2001. Since then, 115 different mutations of ZE...

journal_title：Clinical genetics

authors： Engenheiro E,Møller RS,Pinto M,Soares G,Nikanorova M,Carreira IM,Ullmann R,Tommerup N,Tümer Z

更新日期：2008-06-01 00:00:00