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1
AGG interspersion patterns in the CGG repeat of the FMR1 gene and linked DXS548/FRAXAC1 haplotypes in Brazilian populations
AGG interspersion patterns in the CGG repeat of the FMR1 gene and linked DXS548/FRAXAC1 haplotypes in Brazilian populations
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AGG interspersion patterns in the CGG repeat of the FMR1 gene and linked DXS548/FRAXAC1 haplotypes in Brazilian populations

Angeli, Claudia B. ; Capelli, Leonardo P. ; Auricchio, Maria Teresa B.M. ; Vianna-Morgante, Angela M. ; Mingroni-Netto, Regina C. ; Leal-Mesquita, Emygdia R. ; Ribeiro-dos-Santos, Ândrea K.C. ; Ferrari, Iris ; Oliveira, Silviene F. ; Klautau-Guimarães, Maria de Nazaré

American journal of medical genetics. Part A, 2005-07, Vol.136A (1), p.112-112 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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2
AGG interspersion patterns in the CGG repeat of the FMR1 gene and linked DXS548/FRAXAC1 haplotypes in Brazilian populations
AGG interspersion patterns in the CGG repeat of the FMR1 gene and linked DXS548/FRAXAC1 haplotypes in Brazilian populations
Material Type:
Artigo 		Adicionar ao Meu Espaço

AGG interspersion patterns in the CGG repeat of the FMR1 gene and linked DXS548/FRAXAC1 haplotypes in Brazilian populations

Angeli, Claudia B. ; Capelli, Leonardo P. ; Auricchio, Maria Teresa B.M. ; Vianna-Morgante, Angela M. ; Mingroni-Netto, Regina C. ; Leal-Mesquita, Emygdia R. ; Ribeiro-dos-Santos, Ândrea K.C. ; Ferrari, Iris ; Oliveira, Silviene F. ; Klautau-Guimarães, Maria de Nazaré

American journal of medical genetics, 2005-01, Vol.132A (2), p.210-214 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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3
Holoprosencephaly: Clinical evaluation on audiological and brainstem electrophysiological profiles
Holoprosencephaly: Clinical evaluation on audiological and brainstem electrophysiological profiles
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Holoprosencephaly: Clinical evaluation on audiological and brainstem electrophysiological profiles

Antoneli, Melissa Z. ; Zanchetta, Sthella ; Zorzetto, Neivo L. ; Ribeiro, Lucilene A. ; Richieri-Costa, Antonio

American journal of medical genetics. Part A, 2006-10, Vol.140A (19), p.2142-2145 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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4
Relationship between polymorphisms in genes involved in homocysteine metabolism and maternal risk for Down syndrome in Brazil
Relationship between polymorphisms in genes involved in homocysteine metabolism and maternal risk for Down syndrome in Brazil
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Relationship between polymorphisms in genes involved in homocysteine metabolism and maternal risk for Down syndrome in Brazil

da Silva, Luciana Rodrigues Jacy ; Vergani, Naja ; Galdieri, Luciano de Camargo ; Ribeiro Porto, Marianna Picarelli ; Longhitano, Silvia Bragagnolo ; Brunoni, Decio ; D'Almeida, Vânia ; Alvarez Perez, Ana Beatriz

American journal of medical genetics. Part A, 2005-06, Vol.135A (3), p.263-267 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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5
The phenotypic spectrum of congenital Zika syndrome
The phenotypic spectrum of congenital Zika syndrome
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The phenotypic spectrum of congenital Zika syndrome

del Campo, Miguel ; Feitosa, Ian M. L. ; Ribeiro, Erlane M. ; Horovitz, Dafne D. G. ; Pessoa, André L. S. ; França, Giovanny V. A. ; García‐Alix, Alfredo ; Doriqui, Maria J. R. ; Wanderley, Hector Y. C. ; Sanseverino, Maria V. T. ; Neri, João I. C. F. ; Pina‐Neto, João M. ; Santos, Emerson S. ; Verçosa, Islane ; Cernach, Mirlene C. S. P. ; Medeiros, Paula F. V. ; Kerbage, Saile C. ; Silva, André A. ; van der Linden, Vanessa ; Martelli, Celina M. T. ; Cordeiro, Marli T. ; Dhalia, Rafael ; Vianna, Fernanda S. L. ; Victora, Cesar G. ; Cavalcanti, Denise P. ; Schuler‐Faccini, Lavinia

American journal of medical genetics. Part A, 2017-04, Vol.173 (4), p.841-857 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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6
Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins
Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins
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Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins

Fernanda S Jehee Valdirene T. de Oliveira; Juliana Gurgel Giannetti; Rafaella X Pietra; Fernando V. M Rubatino; Natália V Carobin; Gabrielle S Vianna; Mariana L. de Freitas; Karla S Fernandes; Beatriz S. V Ribeiro; Hennie T Brüggenwirth; Roza Ali-Amin; Janson J White; Zeynep C Akdemir; Shalini N Jhangiani; Richard A Gibbs; James R Lupski; Monica C Varela; Celia Priszkulnik Koiffmann; Carla Rosenberg; Cláudia M. B Carvalho; Baylor-Hopkins Center for Mendelian Genomics

American Journal of Medical Genetics. Part A Hoboken online, p. 1-5, June 2017

Hoboken 2017

Item não circula. Consulte sua biblioteca.(Acessar)

7
Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins
Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins
Material Type:
Artigo 		Adicionar ao Meu Espaço

Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins

Jehee, Fernanda S. ; de Oliveira, Valdirene T. ; Gurgel‐Giannetti, Juliana ; Pietra, Rafaella X. ; Rubatino, Fernando V. M. ; Carobin, Natália V. ; Vianna, Gabrielle S. ; de Freitas, Mariana L. ; Fernandes, Karla S. ; Ribeiro, Beatriz S. V. ; Brüggenwirth, Hennie T. ; Ali‐Amin, Roza ; White, Janson J. ; Akdemir, Zeynep C. ; Jhangiani, Shalini N. ; Gibbs, Richard A. ; Lupski, James R. ; Varela, Monica C. ; Koiffmann, Célia ; Rosenberg, Carla ; Carvalho, Cláudia M. B.

American journal of medical genetics. Part A, 2017-09, Vol.173 (9), p.2451-2455 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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8
Atypical interhemispheric fusion with a cebocephalic-like functional single nostril nose and a novel SHH mutation
Atypical interhemispheric fusion with a cebocephalic-like functional single nostril nose and a novel SHH mutation
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Atypical interhemispheric fusion with a cebocephalic-like functional single nostril nose and a novel SHH mutation

Lucilene Arilho Ribeiro Antonio Richieri-Costa

American Journal of Medical Genetics. Part A v. 136, n. 4, p. 348-349, Aug., 2005

Hoboken 2005

Item não circula. Consulte sua biblioteca.(Acessar)

9
Single median maxillary central incisor, hypophyseal tumor, and SHH mutation
Single median maxillary central incisor, hypophyseal tumor, and SHH mutation
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Single median maxillary central incisor, hypophyseal tumor, and SHH mutation

Lucilene Arilho Ribeiro Antonio Richieri-Costa

American Journal of Medical Genetics. Part A v. 136, n. 4, p. 346-347, Aug., 2005

Hoboken 2005

Item não circula. Consulte sua biblioteca.(Acessar)

10
Atypical interhemispheric fusion with a cebocephalic-like functional single nostril nose and a novel SHH mutation
Atypical interhemispheric fusion with a cebocephalic-like functional single nostril nose and a novel SHH mutation
Material Type:
Artigo 		Adicionar ao Meu Espaço

Atypical interhemispheric fusion with a cebocephalic-like functional single nostril nose and a novel SHH mutation

Lucilene Arilho Ribeiro Antonio Richieri-Costa

American Journal of Medical Genetics. Part A v. 136, n. 4, p. 348-349, Aug., 2005

Hoboken 2005

Item não circula. Consulte sua biblioteca.(Acessar)

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Deste Autor:

  1. Richieri-Costa, A
  2. Ribeiro, L
  3. Bertolacini, C
  4. Giugliani, R
  5. Zechi-Ceide, R

Neste Assunto:

  1. Genetics & Heredity
  2. Life Sciences & Biomedicine
  3. Science & Technology
  4. Humans
  5. Holoprosencefalia

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

Buscando em bases de dados remotas. Favor aguardar.