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Pesquisa : C16.131.831.512.420 [Categoria DeCS]
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[PMID]:28710038
[Au] Autor:Zhang Q; Si N; Liu Y; Zhang D; Wang R; Zhang Y; Wang S; Liu X; Deng X; Ma Y; Ge P; Zhao J; Zhang X
[Ad] Endereço:Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, China 6 Tiantanxili, DongCheng District, Beijing 100050, China; China National Clinical Research Center for Neurological Diseases, Beijing, China; Center of Stroke, Beijing Institute for Brain Disorders, Beijing, China
[Ti] Título:Steroid sulfatase and filaggrin mutations in a boy with severe ichthyosis, elevated serum IgE level and moyamoya syndrome.
[So] Source:Gene;628:103-108, 2017 Sep 10.
[Is] ISSN:1879-0038
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:X-linked ichthyosis (XLI) is a relatively common, recessive condition caused by mutations in the steroid sulfatase (STS) gene. Common loss-of-function mutations in the filaggrin gene (FLG) cause ichthyosis vulgaris and predispose individuals to atopic eczema. We report a case of a 6-year-old boy who presented with unusually severe XLI, an increased serum immunoglobulin E level (2120IU/ml) and moyamoya angiopathy. Whole-exome sequencing identified a gross deletion encompassing the STS in Xp22.31 and the p.K4022X FLG mutation. The deletion is at least 1.6Mb in size in the proband, based on real-time quantitative polymerase chain reaction results. No other genetic mutations related to ichthyosis, moyamoya or hyper-immunoglobulin E syndrome were detected. Furthermore, his mother's brothers suffered from mild XLI and only had a deletion encompassing the STS. Additionally, his father and older sister suffered from mild ichthyosis vulgaris and had the p.K4022X FLG mutation. We report the first case of XLI with concurrent moyamoya syndrome. Moreover, an IgE-mediated immune response may have triggered the moyamoya signaling cascade in this patient with ichthyosis. Furthermore, our study strengthens the hypothesis that filaggrin defects can synergize with an STS deficiency to exacerbate the ichthyosis phenotype in an ethnically diverse population.
[Mh] Termos MeSH primário: Ictiose Ligada ao Cromossomo X/genética
Imunoglobulina E/sangue
Proteínas de Filamentos Intermediários/genética
Doença de Moyamoya/genética
Esteril-Sulfatase/genética
[Mh] Termos MeSH secundário: Criança
Saúde da Família
Feminino
Seres Humanos
Ictiose Ligada ao Cromossomo X/complicações
Ictiose Ligada ao Cromossomo X/imunologia
Masculino
Doença de Moyamoya/complicações
Doença de Moyamoya/imunologia
Mutação
Linhagem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Intermediate Filament Proteins); 0 (filaggrin); 37341-29-0 (Immunoglobulin E); EC 3.1.6.2 (Steryl-Sulfatase)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171004
[Lr] Data última revisão:
171004
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170716
[St] Status:MEDLINE


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[PMID]:27392637
[Au] Autor:Geyer J; Bakhaus K; Bernhardt R; Blaschka C; Dezhkam Y; Fietz D; Grosser G; Hartmann K; Hartmann MF; Neunzig J; Papadopoulos D; Sánchez-Guijo A; Scheiner-Bobis G; Schuler G; Shihan M; Wrenzycki C; Wudy SA; Bergmann M
[Ad] Endereço:Institute of Pharmacology and Toxicology, Justus Liebig University, Giessen, Germany. Electronic address: Joachim.M.Geyer@vetmed.uni-giessen.de.
[Ti] Título:The role of sulfated steroid hormones in reproductive processes.
[So] Source:J Steroid Biochem Mol Biol;172:207-221, 2017 Sep.
[Is] ISSN:1879-1220
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Sulfated steroid hormones, such as dehydroepiandrosterone sulfate or estrone-3-sulfate, have long been regarded as inactive metabolites as they cannot activate classical steroid receptors. Some of them are present in the blood circulation at quite high concentrations, but generally sulfated steroids exhibit low membrane permeation due to their hydrophilic properties. However, sulfated steroid hormones can actively be imported into specific target cells via uptake carriers, such as the sodium-dependent organic anion transporter SOAT, and, after hydrolysis by the steroid sulfatase (so-called sulfatase pathway), contribute to the overall regulation of steroid responsive organs. To investigate the biological significance of sulfated steroid hormones for reproductive processes in humans and animals, the research group "Sulfated Steroids in Reproduction" was established by the German Research Foundation DFG (FOR1369). Projects of this group deal with transport of sulfated steroids, sulfation of free steroids, desulfation by the steroid sulfatase, effects of sulfated steroids on steroid biosynthesis and membrane receptors as well as MS-based profiling of sulfated steroids in biological samples. This review and concept paper presents key findings from all these projects and provides a broad overview over the current research on sulfated steroid hormones in the field of reproduction.
[Mh] Termos MeSH primário: Sulfato de Desidroepiandrosterona/metabolismo
Estrona/análogos & derivados
Ictiose Ligada ao Cromossomo X/metabolismo
Reprodução/genética
Esterol O-Aciltransferase/metabolismo
Esteril-Sulfatase/metabolismo
[Mh] Termos MeSH secundário: Animais
Transporte Biológico
Bovinos
Estrona/metabolismo
Feminino
Expressão Gênica
Seres Humanos
Hidroxicolesteróis/metabolismo
Ictiose Ligada ao Cromossomo X/genética
Ictiose Ligada ao Cromossomo X/patologia
Masculino
Oócitos/citologia
Oócitos/metabolismo
Placenta/citologia
Placenta/metabolismo
Gravidez
Esterol O-Aciltransferase/genética
Esteril-Sulfatase/genética
Suínos
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Hydroxycholesterols); 2DI9HA706A (Estrone); 57B09Q7FJR (Dehydroepiandrosterone Sulfate); EC 2.3.1.26 (Sterol O-Acyltransferase); EC 2.3.1.26 (sterol O-acyltransferase 1); EC 3.1.6.2 (Steryl-Sulfatase); QTL48N278K (estrone sulfate)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170822
[Lr] Data última revisão:
170822
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160710
[St] Status:MEDLINE


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[PMID]:27919139
[Au] Autor:Okusa T; Yamamichi G; Taniguchi A; Kishimoto N; Tsutahara K; Tanigawa G; Takao T; Yamaguchi S
[Ad] Endereço:The Department of Urology, Osaka General Medical Center.
[Ti] Título:[A Case of Steroid Sulfatase Deficiency Complicated by Bilateral Undescended Testis].
[So] Source:Hinyokika Kiyo;62(11):595-597, 2016 Nov.
[Is] ISSN:0018-1994
[Cp] País de publicação:Japan
[La] Idioma:jpn
[Ab] Resumo:Steroid sulfatase (STS) deficiency is one of the causes of ichthyoses. STS genes on the X chromosome is responsible for this disease. Therefore, STS deficiency is also called X-linked ichthyosis. Herein we report a case of STS deficiency complicated by bilateral undescended testis. A5-year-old-boy with STS deficiency was referred to our hospital because of bilateral undescended testis. We performed bilateral orchiopexy.
[Mh] Termos MeSH primário: Ictiose Ligada ao Cromossomo X/complicações
Doenças Testiculares/etiologia
[Mh] Termos MeSH secundário: Pré-Escolar
Criptorquidismo
Seres Humanos
Masculino
Doenças Testiculares/cirurgia
Resultado do Tratamento
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170317
[Lr] Data última revisão:
170317
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161206
[St] Status:MEDLINE
[do] DOI:10.14989/ActaUrolJap_62_11_595


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[PMID]:27817780
[Au] Autor:Huang JW; Tang N; Li WG; Li ZT; Luo SQ; Li JW; Huang J; Yan TZ
[Ad] Endereço:Department of Clinical Laboratory, Liuzhou Municipal Maternity and Child Healthcare Hospital, Liuzhou, Guangxi 545001, China. 439078813@qq.com.
[Ti] Título:[Identification of gene mutation and prenatal diagnosis in a family with X-linked ichthyosis].
[So] Source:Zhongguo Dang Dai Er Ke Za Zhi;18(11):1136-1140, 2016 Nov.
[Is] ISSN:1008-8830
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:X-linked ichthyosis (XLI) is a metabolic disease with steroid sulfatase deficiency and often occurs at birth or shortly after birth. The encoding gene of steroid sulfatase, STS, is located on the short arm of the X chromosome, and STS deletion or mutation can lead to the development of this disease. This study collected the data on the clinical phenotype from a family, and the proband, a boy aged 11 years with full-term vaginal delivery, had dry and rough skin and black-brown scaly patches, mainly in the abdomen and extensor aspect of extremities. Peripheral blood samples were collected from each family member and DNA was extracted. Multiplex ligation-dependent probe amplification (MLPA) was used to measure the copy number of STS on the X chromosome. Whole-genome microarray was used to determine the size of the segment with microdeletion in the X chromosome. MLPA was then used for prenatal diagnosis for the mother of the proband. The results revealed that the proband and another two male patients had hemizygotes in STS deletion. Gene microarray identified a rare deletion with a size of 1.6 Mb at Xp22.31 (chrX: 6,516,735-8,131,442). Two female family members were found to be carriers. Prenatal diagnosis showed that the fetus carried by the proband's mother was a carrier of this microdeletion. This study showed STS gene deletion in this family of XLI, which causes the unique skin lesions of XLI. MLPA is a convenient and reliable technique for the molecular and prenatal diagnosis of XLI.
[Mh] Termos MeSH primário: Ictiose Ligada ao Cromossomo X/genética
Mutação
Diagnóstico Pré-Natal
[Mh] Termos MeSH secundário: Criança
Seres Humanos
Ictiose Ligada ao Cromossomo X/diagnóstico
Masculino
Polimorfismo de Nucleotídeo Único
Esteril-Sulfatase/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.1.6.2 (Steryl-Sulfatase)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170308
[Lr] Data última revisão:
170308
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161108
[St] Status:MEDLINE


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[PMID]:27711218
[Au] Autor:Chatterjee S; Humby T; Davies W
[Ad] Endereço:MRC Centre for Neuropsychiatric Genetics and Genomics and Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, United Kingdom.
[Ti] Título:Behavioural and Psychiatric Phenotypes in Men and Boys with X-Linked Ichthyosis: Evidence from a Worldwide Online Survey.
[So] Source:PLoS One;11(10):e0164417, 2016.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: X-linked ichthyosis (XLI) is a rare dermatological condition arising from deficiency for the enzyme steroid sulfatase (STS). Preliminary evidence in boys with XLI, and animal model studies, suggests that individuals lacking STS are at increased risk of developmental disorders and associated traits. However, the behavioural profile of children with XLI is poorly-characterised, and the behavioural profile of adults with XLI has not yet been documented at all. MATERIALS AND METHODS: Using an online survey, advertised worldwide, we collected detailed self- or parent-reported information on behaviour in adult (n = 58) and younger (≤18yrs, n = 24) males with XLI for comparison to data from their non-affected brothers, and age/gender-matched previously-published normative data. The survey comprised demographic and background information (including any prior clinical diagnoses) and validated questionnaires assaying phenotypes of particular interest (Adult ADHD Self-Report Scale v1.1, Barrett Impulsiveness Scale-11, adult and adolescent Autism Quotient, Kessler Psychological Distress Scales, and Disruptive Behaviour Disorder Rating Scale). RESULTS: Individuals with XLI generally exhibited normal sensory function. Boys with XLI were at increased risk of developmental disorder, whilst adults with the condition were at increased risk of both developmental and mood disorders. Both adult and younger XLI groups scored significantly more highly than male general population norms on measures of inattention, impulsivity, autism-related traits, psychological distress and disruptive behavioural traits. CONCLUSIONS: These findings indicate that both adult and younger males with XLI exhibit personality profiles that are distinct from those of males within the general population, and suggest that individuals with XLI may be at heightened risk of psychopathology. The data are consistent with the notion that STS is important in neurodevelopment and ongoing brain function, and with previous work suggesting high rates of developmental disorders in boys with XLI. Our results suggest that individuals with XLI may require medical care from multidisciplinary teams, and should help to inform genetic counselling for the condition.
[Mh] Termos MeSH primário: Comportamento/fisiologia
Ictiose Ligada ao Cromossomo X/psicologia
[Mh] Termos MeSH secundário: Adulto
Transtorno Autístico/complicações
Transtorno Autístico/diagnóstico
Criança
Seres Humanos
Ictiose Ligada ao Cromossomo X/complicações
Ictiose Ligada ao Cromossomo X/diagnóstico
Internet
Masculino
Transtornos do Humor/complicações
Transtornos do Humor/diagnóstico
Doenças Neurodegenerativas/complicações
Doenças Neurodegenerativas/diagnóstico
Fenótipo
Psicometria
Inquéritos e Questionários
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170922
[Lr] Data última revisão:
170922
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161007
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0164417


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[PMID]:27531568
[Au] Autor:Sánchez-Guijo A; Neunzig J; Gerber A; Oji V; Hartmann MF; Schuppe HC; Traupe H; Bernhardt R; Wudy SA
[Ad] Endereço:Steroid Research & Mass Spectrometry Unit, Division of Pediatric Endocrinology & Diabetology, Center of Child and Adolescent Medicine, Justus Liebig University, Feulgenstrasse 12, 35392, Giessen, Germany. Electronic address: alberto.sanchezguijo@uni-giessen.de.
[Ti] Título:Role of steroid sulfatase in steroid homeostasis and characterization of the sulfated steroid pathway: Evidence from steroid sulfatase deficiency.
[So] Source:Mol Cell Endocrinol;437:142-153, 2016 Dec 05.
[Is] ISSN:1872-8057
[Cp] País de publicação:Ireland
[La] Idioma:eng
[Ab] Resumo:The impact of steroid sulfatase (STS) activity in the circulating levels of both sulfated and unconjugated steroids is only partially known. In addition, the sulfated steroid pathway, a parallel pathway to the one for unconjugated steroids, which uses the same enzymes, has never been characterized in detail before. Patients with steroid sulfatase deficiency (STSD) are unable to enzymatically convert sulfated steroids into their unconjugated forms, and are a good model to elucidate how STS affects steroid biosynthesis and to study the metabolism of sulfated steroids. We quantified unconjugated and sulfated steroids in STSD serum, and compared these results with data obtained from serum of healthy controls. Most sulfated steroids were increased in STSD. However, androstenediol-3-sulfate and epiandrosterone sulfate showed similar levels in both groups, and the concentrations of androsterone sulfate were notably lower. Hydroxylated forms of DHEAS and of pregnenolone sulfate were found to be increased in STSD, suggesting a mechanism to improve the excretion of sulfated steroids. STSD testosterone concentrations were normal, but cholesterol and DHEA were significantly decreased. Additionally, serum bile acids were three-fold higher in STSD. Correlations between concentrations of steroids in each group indicate that 17α-hydroxy-pregnenolone-3-sulfate in men is mainly biosynthesized from the precursor pregnenolone sulfate and androstenediol-3-sulfate from DHEAS. These findings confirm the coexistence of two steroidogenic pathways: one for unconjugated steroids and another one for sulfated steroids. Each pathway is responsible for the synthesis of specific steroids. The equal levels of testosterone, and the reduced level of unconjugated precursors in STSD, support that testosterone is primarily synthesized from sulfated steroids. In consequence, testosterone synthesis in STSD relies on an enzyme with sulfatase activity other than STS. This study reveals that STS is a key player of steroid biosynthesis regulating the availability of circulating cholesterol.
[Mh] Termos MeSH primário: Homeostase
Ictiose Ligada ao Cromossomo X/metabolismo
Ictiose Ligada ao Cromossomo X/patologia
Esteroides/metabolismo
Esteril-Sulfatase/metabolismo
Sulfatos/metabolismo
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Estudos de Casos e Controles
Criança
Pré-Escolar
Desidroepiandrosterona
Estradiol Desidrogenases/metabolismo
Seres Humanos
Meia-Idade
Pregnenolona
Esteroide 17-alfa-Hidroxilase/metabolismo
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Steroids); 0 (Sulfates); 04Y4D91RG0 (pregnenolone sulfate); 459AG36T1B (Dehydroepiandrosterone); 73R90F7MQ8 (Pregnenolone); EC 1.1.1.62 (Estradiol Dehydrogenases); EC 1.1.1.62 (HSD17B2 protein, human); EC 1.14.14.19 (CYP17A1 protein, human); EC 1.14.14.19 (Steroid 17-alpha-Hydroxylase); EC 3.1.6.2 (Steryl-Sulfatase)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171107
[Lr] Data última revisão:
171107
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160818
[St] Status:MEDLINE


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[PMID]:27350592
[Au] Autor:Lin X; Chen H; Zhu W; Lian S
[Ad] Endereço:Department of Dermatology, Xuan Wu hospital, Capital Medical University, 45 Changchun St, Xuanwu District, Beijing 100053, China.
[Ti] Título:Neurofibromatosis type 1 and X-linked ichthyosis in a patient with a novel frameshift mutation in the NF1 gene.
[So] Source:Eur J Dermatol;26(5):498-499, 2016 Oct 01.
[Is] ISSN:1952-4013
[Cp] País de publicação:France
[La] Idioma:eng
[Mh] Termos MeSH primário: Genes da Neurofibromatose 1
Ictiose Ligada ao Cromossomo X/genética
Neurofibromatose 1/genética
[Mh] Termos MeSH secundário: Criança
Mutação da Fase de Leitura
Seres Humanos
Ictiose Ligada ao Cromossomo X/complicações
Masculino
Neurofibromatose 1/complicações
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170623
[Lr] Data última revisão:
170623
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160629
[St] Status:MEDLINE


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[PMID]:27264819
[Au] Autor:Liu X; Bai N; Kong X
[Ad] Endereço:Reproduction Medicine Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. kongxd@263.net.
[Ti] Título:[Genetic analysis of a rare case with Kallman syndrome and steroid sulfatase deficiency].
[So] Source:Zhonghua Yi Xue Yi Chuan Xue Za Zhi;33(3):349-52, 2016 Jun.
[Is] ISSN:1003-9406
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:OBJECTIVE: To explore the pathogenesis of a patient featuring azoospermia and steroid sulfatase deficiency. METHODS: Polymerase chain reaction (PCR), G-banded karyotyping and Illumina Human CytoSNP-12 Beadchip analysis were conducted. RESULTS: STS sites PCR showed that there was no deletion in the AZF zone. G-banding analysis indicated an unknown structural change in chromosome X, which was verified by single nucleotide polymorphism array (SNP array) as a 5.4 Mb deletion in Xp22.31-p22.33. CONCLUSION: The Xp22.31-p22.33 deletion probably underlies the Kallman syndrome and steroid sulfatase defect in the patient.
[Mh] Termos MeSH primário: Ictiose Ligada ao Cromossomo X/genética
Síndrome de Kallmann/genética
[Mh] Termos MeSH secundário: Adulto
Seres Humanos
Cariotipagem
Masculino
Reação em Cadeia da Polimerase
Polimorfismo de Nucleotídeo Único
[Pt] Tipo de publicação:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Mês de entrada:1608
[Cu] Atualização por classe:160606
[Lr] Data última revisão:
160606
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160607
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.1003-9406.2016.03.016


  9 / 232 MEDLINE  
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[PMID]:27192889
[Au] Autor:Abdel-Hamid MS; Ismail MF; Darwish HA; Effat LK; Zaki MS; Abdel-Salam GM
[Ti] Título:CO-OCCURRENCE OF PRIMARY MICROCEPHALY CAUSED BY A NOVEL HOMOZYGOUS ASPM MUTATION ALONG WITH X-LINKED ICHTHYOSIS IN THE SAME PATIENT.
[So] Source:Genet Couns;27(1):25-33, 2016.
[Is] ISSN:1015-8146
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:Autosomal recessive primary microcephaly is a heterogeneous genetic disorder caused by genes that affect neurogenesis. This form of microcephaly has not been associated with other congenital anomalies. ASPM mutations have been identified as the major cause implicated in autosomal recessive primary microcephaly. X-linked recessive ichthyosis, is an inborn error of steroid sulfatase metabolism characterized by dark and adhesive scaly skin. Here, we examined an Egyptian boy presenting with microcephaly and simplified gyral pattern. Additionally, he had ichthyosis that goes with the X-linked type. Mutation analyses of the ASPM gene for autosomal recessive primary microcephaly and STS gene of X-linked recessive ichthyosis were conducted revealing a co-occurrence of a novel homozygous splice site mutation of ASPM gene (c.2936+1G>A) and a partial deletion of STS spanning from exon 7-10. We propose that the phenotype of our patient results from the combined effects of mutations in both ASPM and STS that account for the neurological signs and skin manifestations, respectively. The association of isolated X-linked recessive ichthyosis and autosomal recessive primary microcephaly has never been reported in the literature. Careful clinical and genetic assessment of patients with atypical clinical phenotypes is crucial for detecting such rare double mutations and thus proper genetic counseling.
[Mh] Termos MeSH primário: Ictiose Ligada ao Cromossomo X/genética
Microcefalia/genética
Proteínas do Tecido Nervoso/genética
Esteril-Sulfatase/genética
[Mh] Termos MeSH secundário: Pré-Escolar
Consanguinidade
Análise Mutacional de DNA
Deficiências do Desenvolvimento/genética
Egito
Homozigoto
Seres Humanos
Masculino
Mutação
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (ASPM protein, human); 0 (Nerve Tissue Proteins); EC 3.1.6.2 (STS protein, human); EC 3.1.6.2 (Steryl-Sulfatase)
[Em] Mês de entrada:1606
[Cu] Atualização por classe:160519
[Lr] Data última revisão:
160519
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160520
[St] Status:MEDLINE


  10 / 232 MEDLINE  
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[PMID]:27085231
[Au] Autor:Yang CS; Pomerantz H; Mannava KA; Corwin J; Weinstock MA; Fleckman P; DiGiovanna JJ; Robinson-Bostom L
[Ad] Endereço:Department of Dermatology, Alpert Medical School of Brown University, Providence, RI. Electronic address: catherine_yang@brown.edu.
[Ti] Título:Comparing histopathology from patients with X-linked recessive ichthyosis and autosomal recessive congenital ichthyosis with transglutaminase 1 mutation: A report from the National Registry for Ichthyosis and Related Skin Disorders.
[So] Source:J Am Acad Dermatol;74(5):1008-10.e2, 2016 May.
[Is] ISSN:1097-6787
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Genes Recessivos
Predisposição Genética para Doença
Ictiose Lamelar/patologia
Ictiose Ligada ao Cromossomo X/patologia
Sistema de Registros
Transglutaminases/genética
[Mh] Termos MeSH secundário: Biópsia por Agulha
Feminino
Seres Humanos
Ictiose Lamelar/genética
Ictiose Ligada ao Cromossomo X/genética
Imuno-Histoquímica
Masculino
Mutação
Estatísticas não Paramétricas
[Pt] Tipo de publicação:COMPARATIVE STUDY; LETTER; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
EC 2.3.2.13 (Transglutaminases); EC 2.3.2.13 (transglutaminase 1)
[Em] Mês de entrada:1609
[Cu] Atualização por classe:170501
[Lr] Data última revisão:
170501
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160418
[St] Status:MEDLINE



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BIREME/OPAS/OMS - Centro Latino-Americano e do Caribe de Informação em Ciências da Saúde