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Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

Publikováno v: EUROPEAN JOURNAL OF HUMAN GENETICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FISABIO. Repositorio Institucional de Producción Científica

Tatton-Brown-Rahman (TBRS) syndrome is a recently described overgrowth syndrome caused by loss of function variants in the DNMT3A gene. This gene encodes for a DNA methyltransferase 3 alpha, which is involved in epigenetic regulation, especially duri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::34d492a748f434f436b30adbe0a66ffd
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=16830

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Improving detection and genetic counseling in carriers of spinal muscular atrophy with two copies of the SMN1 gene

Autor: Alías L, Barceló MJ, Bernal S, Martínez-Hernández R, Also-Rallo E, Vázquez C, Santana A, Millán JM, Baiget M, Tizzano EF

Publikováno v: CLINICAL GENETICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe

Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by mutations in the survival motor neuron1 gene (SMN1). Global carrier frequency is around 1 in 50 and carrier detection is crucial to define couples at risk to have SMA offspring

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::55aa2dbc89318c2d780041a8b4b5f804
https://pubmed.ncbi.nlm.nih.gov/23799925

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F8 gene dosage defects in atypical patients with severe haemophilia A

Autor: Vencesla, A, Baena, M, Garrido, RP, Nunez, R, Velasco, F, Rosell, J, Villar, A, Jimenez-Yuste, V, Baiget, M, Tizzano, EF

Publikováno v: HAEMOPHILIA
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

We performed molecular analysis of the factor 8 gene (F8) in 272 unrelated Spanish patients with haemophilia A (HA) and detected a mutation by routine analysis in 267 of them (98.1%). No mutation was detected in the remaining five patients despite cl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::d9e79f8a78efbff1dfbdc830e6ca8680
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=11143

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Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy

Autor: Lim, YM, Koh, I, Park, YM, Kim, JJ, Kim, DS, Kim, HJ, Baik, KH, Choi, HY, Yang, GS, Also-Rallo, E, Tizzano, EF, Gamez, J, Park, K, Yoo, HW, Lee, JK, Kim, KK

Publikováno v: NEUROMUSCULAR DISORDERS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Instituto de Salud Carlos III (ISCIII)

Precise topographic localization, predominance in males mostly of Asian origin, and existence of some familial cases suggest a genetic background for monomelic amyotrophy. To identify susceptibility genes for monomelic amyotrophy, we performed whole-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::f7f252e885ae031044975d2870f71481
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=11378

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Raising obstetricians' awareness of spinal muscular atrophy: towards early detection and reproductive planning

Autor: Parra, J, Tizzano, EF

Publikováno v: Journal of Maternal-Fetal & Neonatal Medicine
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder that is caused by degeneration of a motor neurons in the spinal cord anterior horns. This degeneration can lead to progressive atrophy of proximal muscles, weakness, respi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::841f261f0160d343af9292de348fe0b8
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=11005

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Carrier frequency of SMA by quantitative analysis of the SMN1 deletion in the Iranian population

Autor: Hasanzad, M, Azad, M, Kahrizi, K, Saffar, BS, Nafisi, S, Keyhanidoust, Z, Azimian, M, Refah, AA, Also, E, Urtizberea, JA, Tizzano, EF, Najmabadi, H

Publikováno v: EUROPEAN JOURNAL OF NEUROLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

Background and purpose: Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder. Carrier frequency studies of SMA have been reported for various populations. Although no large-scale population-based studies of SMA have be

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::ae8503a3f13582b12ba752bd55678229
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=12904

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