المؤلفون: Rodrigues, Gabriella Fernandes, Losso, André Ramos, Moraes, Rafael dos Reis, Duarte, Maysa Lannes, Macedo, Ricart Gil, Castro, Glória Fernanda Barbosa de Araújo

المصدر: Research, Society and Development; Vol. 12 No. 4; e23912441211 ; Research, Society and Development; Vol. 12 Núm. 4; e23912441211 ; Research, Society and Development; v. 12 n. 4; e23912441211 ; 2525-3409

مصطلحات موضوعية: Ichthyosis, lamellar, Tooth, supernumerary, Pediatric dentistry, Ictiosis lamelar, Diente supernumerario, Odontología pediátrica, Ictiose lamelar, Dente supranumerário, Odontopediatria

وصف الملف: application/pdf

Relation: https://rsdjournal.org/index.php/rsd/article/view/41211/33567; https://rsdjournal.org/index.php/rsd/article/view/41211

الاتاحة: https://rsdjournal.org/index.php/rsd/article/view/41211
https://doi.org/10.33448/rsd-v12i4.41211

المؤلفون: Steven Josue Navarro Turcios, Suyapa Jaqueline Molina Barrios, Madelyne Geovanna Moya Trejo, Geovanna Michele Moya Díaz

المصدر: Ciencia Médica, Vol 23, Iss 2 (2021)

مصطلحات موضوعية: Ectropión, ictiosis lamelar, queratodermia palmoplantar, Honduras, Medicine (General), R5-920

Relation: https://rccm-umss.com/index.php/revistacientificacienciamedica/article/view/279; https://doaj.org/toc/1817-7433; https://doaj.org/toc/2220-2234; https://doaj.org/article/058b864a107a41899759198f3f303a3b

الاتاحة: https://doi.org/10.51581/rccm.v23i2.279
https://doaj.org/article/058b864a107a41899759198f3f303a3b

المؤلفون: Vazquez Gutierrez, Giselle Lucila, Granados Perez, Gabriel, de la Rosa Santana, Jesús Daniel

المصدر: Revista de ciencias médicas de Pinar del Río; Vol. 24, No. 4 (2020); e4466 ; 1561-3194

مصطلحات موضوعية: ICHTHYOSIS, LAMELLAR, CONGENITAL ABNORMALITIES, KERATODERMA, PALMOPLANTAR, ICTIOSIS LAMELAR, ANOMALÍAS CONGÉNITAS, QUERATODERMIA PALMOPLANTAR

وصف الملف: application/pdf; application/xml

Relation: https://revcmpinar.sld.cu/index.php/publicaciones/article/view/4466/pdf; https://revcmpinar.sld.cu/index.php/publicaciones/article/view/4466/4318; Beirana Palencia A, Ortiz Ávalos M. Ictiosis verdaderas. Rev Cent Dermatol Pascua [Internet]. 2008 [citado 15/01/2020]; 17(2): [aprox. 10p.]. Disponible en: https://www.medigraphic.com/pdfs/derma/cd-2008/cd082a.pdf; Arjona-Aguilera C, Blasco-Morente G, Pérez-López I, Martínez-López A, Garrido-Colmenero C, Arias-Santiago S. Ictiosis adquirida: un signo de malignidad. Actual. Med [Internet]. 2015 [citado 15/01/2020]; 100(795): [aprox. 1p.]. Disponible en: https://www.actualidadmedica.es/images/795/pdf/cd01.pdf; Leone de Moraes EL, Souza Freire MH de, Rocha F, Secco IL, Costa T, Afonso RQ. Nursing care for a newborn with Lamellar Ichthyosis: a case study in a neonatal unit. Rev Esc Enferm USP [Internet]. 2019 [citado 15/01/2020]; 53: [aprox. 7p.]. Disponible en: http://www.scielo.br/pdf/reeusp/v53/en_1980-220X-reeusp-53-e03519.pdf; Vega Almendra N, Aranibar Duran L. Ictiosis hereditaria: desafío diagnóstico y terapéutico. Rev Chil Pediatr [Internet]. 2016 [citado 15/01/2020]; 87(3): [aprox. 10p.]. Disponible en: https://scielo.conicyt.cl/pdf/rcp/v87n3/art13.pdf; Pérez-Armas R. Ictiosis laminar: presentación de un caso. Revista Finlay [Internet]. 2013 [citado 15/01/2020]; 3(2): [aprox. 4 p.]. Disponible en: http://www.revfinlay.sld.cu/index.php/finlay/article/view/151/1108; Navarro SJ, Molina Barrios SJ. CASO DE ICTIOSIS LAMINAR EN HONDURAS. Rev Cient Cienc Med [Internet]. 2018 [citado 15/01/2020]; 21(2): [aprox. 1p.]. Disponible en: http://www.scielo.org.bo/pdf/rccm/v21n2/v21n2_a13.pdf; Morales Barrera E, Martínez Zavala M. Ictiosis laminar. Rev Cent Dermatol Pascua [Internet]. 2011 [citado 15/01/2020]; 20(1): [aprox. 3p.]. Disponible en: https://www.medigraphic.com/pdfs/derma/cd-2011/cd111a.pdf; Pratyusha K, Sree PD, Reddy B. Successful outcome of lamellar ichthyosis with oral retinoid therapy: A series of six cases. Indian J Paediatr Dermatol [Internet]. 2016 [citado 15/01/2020]; 17(2): [aprox. 3p.]. Disponible en: http://www.ijpd.in/article.asp?issn=2319-7250;year=2016;volume=17;issue=2;spage=125;epage=128;aulast=Pratyusha; Martini Massanares B, Vasconcelos Schaefer L. Ictiose lamelar com apresentação na vida adulta: relato de caso. Diagn Tratamento [Internet]. 2018 [citado 15/01/2020]; 23(1): [aprox. 3p.]. Disponible en: http://docs.bvsalud.org/biblioref/2018/04/882152/rdt_v23n1_3-6.pdf; Sánchez-Dávila C, Pinto JM. Rehabilitación integral bucal en paciente pediátrico con ictiosis congénita autosómica recesiva. Reporte de caso. ODOUS CIENTIFICA [Internet]. 2016 [citado 15/01/2020]; 17(1): [aprox. 6p.]. Disponible en: http://servicio.bc.uc.edu.ve/odontologia/revista/vol17-n1/art05.pdf; Arandia Valdez R, Salas Mendoza B. Bebé Colodión, a propósito de un caso clínico. Rev Soc Bol Ped [Internet]. 2005 [citado 15/01/2020]; 44(3): [aprox. 2p.]. Disponible en: http://www.scielo.org.bo/pdf/rbp/v44n3/v44n3a05.pdf; https://revcmpinar.sld.cu/index.php/publicaciones/article/view/4466

الاتاحة: https://revcmpinar.sld.cu/index.php/publicaciones/article/view/4466

المؤلفون: Moraes, Etiene Leticia Leone de, Freire, Márcia Helena de Souza, Rocha, Franciele, Secco, Izabela Linha, Costa, Taine, Afonso, Regiane Queiroz

المصدر: Revista da Escola de Enfermagem da USP; v. 53 (2019); e03519 ; Revista da Escola de Enfermagem da USP; Vol. 53 (2019); e03519 ; 1980-220X ; 0080-6234

مصطلحات موضوعية: Ichthyosis, Lamellar, Congenital Abnormalities, Infant, Newborn, Intensive Care Units, Neonatal, Neonatal Nursing, Ictiose Lamelar, Anormalidades Congênitas, Recém-Nascido, Unidades de Terapia Intensiva Neonatal, Enfermagem Neonatal, Ictiosis Lamelar, Anomalías Congénitas, Recién Nacido, Unidades de Cuidados Intensivos Neonatal, Enfermería Neonatal

Relation: https://www.revistas.usp.br/reeusp/article/view/182694/169544; https://www.revistas.usp.br/reeusp/article/view/182694/169543; https://www.revistas.usp.br/reeusp/article/view/182694

الاتاحة: https://www.revistas.usp.br/reeusp/article/view/182694

المؤلفون: Montalván‐Suárez, Martha, Saraiva Esperón, Uxía, Rodríguez Pazos, Laura, Ordóñez‐Ugalde, Andrés, Moscoso, Fernanda, Ugalde‐Noritz, Nora, Santomé Collazo, Luís, Fachal Vilar, Laura, Tettamanti‐Miranda, Daniel, Ruiz, Juan Carlos, Ginarte Val, Manuel Javier, Vega Gliemmo, Ana

مصطلحات موضوعية: Ichthyosiform Erythroderma, Congenital, Prenatal Diagnosis, Research Support, Non-U.S. Gov't, Ichthyosis, Lamellar, Case Reports, Phenotype, Codon, Nonsense, Mutation, Missense, RNA Splice Sites, ATP Binding Cassette Transporter 1, fenotipo, sitios de empalme del ARN, ictiosis lamelar, mutación de sentido erróneo, transportador de casetes de unión a ATP 1, codón sin sentido, ayuda no gubernamental a la investigación, EEUU, informes de casos, eritrodermia ictiosiforme congénita, diagnóstico prenatal, Gen ABCA12, Harlequin ichthyosis (HI), Autosomal recessive congenital ichthyoses (ARCI)

Relation: ISCIII/INT15/00,070; ISCIII/INT16/00,154; ISCIII/INT17/00,133; Xunta de Galicia/Internacional/IN607B; https://www.ncbi.nlm.nih.gov/pubmed/?term=30916489; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503032/; http://hdl.handle.net/20.500.11940/12841

الاتاحة: https://hdl.handle.net/20.500.11940/12841
https://www.ncbi.nlm.nih.gov/pubmed/?term=30916489
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503032/
https://doi.org/10.1002/mgg3.608

المؤلفون: Fajardo Tornés, Yarine, Ravelo Amargos, Ileana, Sánchez Lombarda, Rita

المصدر: MULTIMED; Vol. 13, No. 2 (2009) ; 1028-4818

مصطلحات موضوعية: ICTIOSIS LAMELAR/diagnóstico, LAMELLAR ICTHYOSIS/diagnosis

وصف الملف: application/pdf

Relation: http://www.revmultimed.sld.cu/index.php/mtm/article/view/1701/1802; 1. Akiyama M, Sugiyama-Nakagiri Y, Sakai K, McMillan JR, Goto M, Arita K, Tsuji-Abe Y, Tabata N, Matsuoka K, Sasaki R, Sawamura D, Shimizu H (2005) Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer. J Clin Invest 115:1777-84 [Medline] 2. 2. Annilo T, Shulenin S, Chen ZQ, Arnould I, Prades C, Lemoine C, Maintoux-Larois C, Devaud C, Dean M, Denefle P, Rosier M (2002) Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34. Cytogenet Genome Res 98:169-76 [Medline] 3. 3. Eckl KM, Krieg P, Kuster W, Traupe H, Andre F, Wittstruck N, Furstenberger G, Hennies HC (2005) Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. Hum Mutat 26:351-61 [Medline] 4. 4. Fischer J, Faure A, Bouadjar B, Blanchet-Bardon C, Karaduman A, Thomas I, Emre S, Cure S, Ozguc M, Weissenbach J, Prud'homme JF (2000) Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity. Am J Hum Genet 66:904-13 [Medline] 5. 5. Huber M, Rettler I, Bernasconi K, Frenk E, Lavrijsen SP, Ponec M, Bon A, Lautenschlager S, Schorderet DF, Hohl D (1995) Mutations of keratinocyte transglutaminase in lamellar ichthyosis [see comments]. Science 267:525-8 [Medline] 6. 6. Jobard F, Lefevre C, Karaduman A, Blanchet-Bardon C, Emre S, Weissenbach J, Ozguc M, Lathrop M, Prud'homme JF, Fischer J (2002) Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. Hum Mol Genet 11:107-13. [Medline] 7. Kelsell DP, Norgett EE, Unsworth H, Teh MT, Cullup T, Mein CA, Dopping-Hepenstal PJ, Dale BA, Tadini G, Fleckman P, Stephens KG, Sybert VP, Mallory SB, North BV, Witt DR, Sprecher E, Taylor AE, Ilchyshyn A, Kennedy CT, Goodyear H, Moss C, Paige D, Harper JI, Young BD, Leigh IM, Eady RA, O'Toole EA (2005) Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet 76:794-803 [Medline] 7. 8. Kim HC, Idler WW, Kim IG, Han JH, Chung SI, Steinert PM (1991) The complete amino acid sequence of the human transglutaminase K enzyme deduced from the nucleic acid sequences of cDNA clones. J Biol Chem 266:536-9 [Medline] 8. 9. Kim IG, McBride OW, Wang M, Kim SY, Idler WW, Steinert PM (1992) Structure and organization of the human transglutaminase 1 gene. J Biol Chem 267:7710-7 [Medline] 9. 10. Krebsova A, Kuster W, Lestringant GG, Schulze B, Hinz B, Frossard PM, Reis A, Hennies HC (2001) Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity. Am J Hum Genet 69:216-22 [Medline]; http://www.revmultimed.sld.cu/index.php/mtm/article/view/1701

الاتاحة: http://www.revmultimed.sld.cu/index.php/mtm/article/view/1701

المؤلفون: Navarro Turcios, Steven Josue, Molina Barrios, Suyapa Jaqueline, Moya Trejo, Madelyne Geovanna, Moya Díaz, Geovanna Michele

المصدر: Revista Científica Ciencia Médica, ISSN 1817-7433, Vol. 23, Nº. 2, 2020 (Ejemplar dedicado a: Revista Científica Ciencia Medica), pags. 271-277

مصطلحات موضوعية: Ectropión, ictiosis lamelar, queratodermia palmoplantar, Honduras, Ectropion, Ichthyosis, Lamellar, Keratoderma Palmoplantar

وصف الملف: application/pdf

Relation: https://dialnet.unirioja.es/servlet/oaiart?codigo=9030185; (Revista) ISSN 2220-2234; (Revista) ISSN 1817-7433

الاتاحة: https://dialnet.unirioja.es/servlet/oaiart?codigo=9030185

المؤلفون: Regiane Queiroz Afonso, Márcia Helena de Souza Freire, Izabela Linha Secco, Etiene Letícia Leone de Moraes, Franciele Rocha, Taine Costa

المصدر: Revista da Escola de Enfermagem da USP
Revista da Escola de Enfermagem da USP v.53 2019
Universidade de São Paulo (USP)
instacron:USP
Revista da Escola de Enfermagem da USP, Volume: 53, Article number: e03519, Published: 02 DEC 2019

مصطلحات موضوعية: medicine.medical_specialty, Enfermagem Neonatal, RT1-120, Unidades de Terapia Intensiva Neonatal, Nursing, Congenital Abnormalities, 030207 dermatology & venereal diseases, 03 medical and health sciences, Nursing care, 0302 clinical medicine, Recién Nacido, Intensive Care Units, Neonatal, Neonatal Nursing, 030225 pediatrics, Anomalías Congénitas, medicine, Anormalidades Congênitas, Enfermería Neonatal, General Nursing, Gynecology, business.industry, Infant, Newborn, Recem nascido, Ictiose Lamelar, Lamellar ichthyosis, Ictiosis Lamelar, medicine.disease, Recém-Nascido, Unidades de Cuidados Intensivos Neonatal, business, Ichthyosis, Lamellar, Nursing diagnosis

وصف الملف: text/html

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::603f5075172d75ace015db5651e8be57
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0080-62342019000100703&tlng=en