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1
Pathogenic TERT promoter variants in telomere diseases
Pathogenic TERT promoter variants in telomere diseases
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Artigo 		Adicionar ao Meu Espaço

Pathogenic TERT promoter variants in telomere diseases

Fernanda Gutierrez-Rodrigues Flávia Sacilotto Donaires; André Luiz Pinto Santos; Alana Vicente; Laura W Dillon; Diego Villa Clé; Bárbara Amélia Aparecida Santana; Mehdi Pirooznia; Maria del Pilar F Ibanez; Danielle M Townsley; Sachiko Kajigaya; Christopher S Hourigan; James N Cooper; Rodrigo Tocantins Calado; Neal S Young

Genetics in Medicine New York v. 21, n. 7, p. 1594-1602, 2019

New York 2019

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 2976752 Estantes Deslizantes )(Acessar)

2
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome
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Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome

Renata Lúcia Leite Ferreira de Lima Sarah A Hoper; Michella Ghassibe; Margaret E Cooper; Nicholas K Rorick; Shinji Kondo; Lori Katz; Mary L Marazita; John Compton; Sherri Bale; Ute Hehr; Michael J Dixon; Sandra Daack-Hirsch; Odile Boute; Bénédicte Bayet; Nicole Revencu; Christine Verellen-Dumoulin; Miikka Vikkula; Antonio Richieri-Costa; Danilo Moretti Ferreira; Jeffrey C Murray; Brian C Schutte

Genetics in Medicine Baltimore v. 11, n. 4, p. 241-247, Apr. 2009

Maryland 2009

Item não circula. Consulte sua biblioteca.(Acessar)

3
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome

Renata Lúcia Leite Ferreira de Lima Sarah A Hoper; Michella Ghassibe; Margaret E Cooper; Nicholas K Rorick; Shinji Kondo; Lori Katz; Mary L Marazita; John Compton; Sherri Bale; Ute Hehr; Michael J Dixon; Sandra Daack-Hirsch; Odile Boute; Bénédicte Bayet; Nicole Revencu; Christine Verellen-Dumoulin; Miikka Vikkula; Antonio Richieri-Costa; Danilo Moretti Ferreira; Jeffrey C Murray; Brian C Schutte

Genetics in Medicine Baltimore v. 11, n. 4, p. 241-247, Apr. 2009

Maryland 2009

Item não circula. Consulte sua biblioteca.(Acessar)

4
De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy
De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy
Material Type:
Artigo 		Adicionar ao Meu Espaço

De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy

Sa, M.N.J. ; Venselaar, H. ; Wiel, L. ; Trimouille, A. ; Lasseaux, E. ; Naudion, S. ; Lacombe, D. ; Piton, A. ; Vincent-Delorme, C. ; Zweier, C. ; Reis, A. ; Trollmann, R. ; Ruiz, A. ; Gabau, E. ; Vetro, A. ; Guerrini, R. ; Bakhtiari, S. ; Kruer, M.C. ; Amor, D.J. ; Cooper, M.S. ; Bijlsma, E.K. ; Barakat, T.S. ; Dooren, M.F. van ; Slegtenhorst, M. van ; Pfundt, R. ; Gilissen, C. ; Willemsen, M.A. ; Vries, B.B.A. de ; Brouwer, A.P.M. de ; Koolen, D.A.

Genetics in Medicine, 2020-04, Vol.22 (4), p.797-802

NATURE PUBLISHING GROUP

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Deste Autor:

  1. Hehr, U
  2. Revencu, N
  3. Schutte, B
  4. Compton, J
  5. Marazita, M

Neste Assunto:

  1. Lábio Fissurado
  2. Mutação
  3. Análise De Sequência De Dna
  4. Fissura Palatina
  5. Telômero

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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