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1
Genotype-phenotype correlation in two patients with familiar Pfeiffer syndrome
Genotype-phenotype correlation in two patients with familiar Pfeiffer syndrome
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Genotype-phenotype correlation in two patients with familiar Pfeiffer syndrome

Ute Schell Antonio Richieri-Costa; Maximilian Muenke

The Brazilian Journal of Dysmorphology and Speech-Hearing Disorders v. 1, n. 1, p. 5-10, July, 1997

Bauru 1997

Item não circula. Consulte sua biblioteca.(Acessar)

2
Genotype-phenotype correlation in two patients with familiar Pfeiffer syndrome
Genotype-phenotype correlation in two patients with familiar Pfeiffer syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

Genotype-phenotype correlation in two patients with familiar Pfeiffer syndrome

Ute Schell Antonio Richieri-Costa; Maximilian Muenke

The Brazilian Journal of Dysmorphology and Speech-Hearing Disorders v. 1, n. 1, p. 5-10, July, 1997

Bauru 1997

Item não circula. Consulte sua biblioteca.(Acessar)

3
SIX3 mutations with holoprosencephaly
SIX3 mutations with holoprosencephaly
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SIX3 mutations with holoprosencephaly

Lucilene Arilho Ribeiro Kenia B El-Jaick; Maximilian Muenke; Antonio Richieri-Costa

American Journal of Medical Genetics Part A Hoboken v. 140A, n. 23, p. 2577-2583, Dec. 2006

Hoboken 2006

Item não circula. Consulte sua biblioteca.(Acessar)

4
SIX3 mutations with holoprosencephaly
SIX3 mutations with holoprosencephaly
Material Type:
Artigo 		Adicionar ao Meu Espaço

SIX3 mutations with holoprosencephaly

Lucilene Arilho Ribeiro Kenia B El-Jaick; Maximilian Muenke; Antonio Richieri-Costa

American Journal of Medical Genetics Part A Hoboken v. 140A, n. 23, p. 2577-2583, Dec. 2006

Hoboken 2006

Item não circula. Consulte sua biblioteca.(Acessar)

5
Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort
Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort
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Artigo 		Adicionar ao Meu Espaço

Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort

Lucilene Arilho Ribeiro Erich Roessler; Ping Hu; Daniel E Pineda-Alvarez; Nan Zhou; MaryPat Jones; Settara Chandrasekharappa; Antonio Richieri-Costa; Maximilian Muenke

Birth Defects Research. Part A, Clinical and Molecular Teratology. Hoboken v. 94, n. 11, p. 912-917, Nov. 2012

Hoboken 2012

Item não circula. Consulte sua biblioteca.(Acessar)

6
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly
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Artigo 		Adicionar ao Meu Espaço

Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly

Deeann E. Wallis Erich Roessler; Ute Hehr; Luisa Nanni; Tim Wiltshire; Antonio Richieri-Costa; Gabriele Gillessen-Kaesbach; Elaine H Zackai; Johanna Rommens; Maximilian Muenke

Nature Genetics Washington v. 22, n. 2, p. 196-198, June 1999

Washington 1999

Item não circula. Consulte sua biblioteca.(Acessar)

7
Unique alterations of an ultraconserved non-coding Element in the 3′UTR of ZIC2 in holoprosencephaly
Unique alterations of an ultraconserved non-coding Element in the 3′UTR of ZIC2 in holoprosencephaly
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Unique alterations of an ultraconserved non-coding Element in the 3′UTR of ZIC2 in holoprosencephaly

E Roessler Ping Hu; Sung-Kook Hong; Kshitij Srivastava; Blake Carrington; Raman Sood; Hanna Petrykowska; Laura Elnitski; Lucilene Arilho Ribeiro; Antonio Richieri-Costa; Benjamin Feldman; Ward F Odenwald; Maximilian Muenke

PLoS One San Fracisco v. 7, n. 7, p. e39026, July 2012

San Francisco 2012

Item não circula. Consulte sua biblioteca.(Acessar)

8
Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome
Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome
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Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome

Sungkook Hong Ping Hu; Juliana Marino; Sophia B Hufnagel; Robert J Hopkin; Alma Toromanovic; Antonio Richieri-Costa; Lucilene A. Ribeiro Bicudo; Paul Kruszka; Erich Roessler; Maximilian Muenke

Human Molecular Genetics v. 25, n. 10, 1912-1922, 2016 Oxford

Oxford 2016

Item não circula. Consulte sua biblioteca.(Acessar)

9
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly

Deeann E. Wallis Erich Roessler; Ute Hehr; Luisa Nanni; Tim Wiltshire; Antonio Richieri-Costa; Gabriele Gillessen-Kaesbach; Elaine H Zackai; Johanna Rommens; Maximilian Muenke

Nature Genetics Washington v. 22, n. 2, p. 196-198, June 1999

Washington 1999

Item não circula. Consulte sua biblioteca.(Acessar)

10
Unique alterations of an ultraconserved non-coding Element in the 3′UTR of ZIC2 in holoprosencephaly
Unique alterations of an ultraconserved non-coding Element in the 3′UTR of ZIC2 in holoprosencephaly
Material Type:
Artigo 		Adicionar ao Meu Espaço

Unique alterations of an ultraconserved non-coding Element in the 3′UTR of ZIC2 in holoprosencephaly

E Roessler Ping Hu; Sung-Kook Hong; Kshitij Srivastava; Blake Carrington; Raman Sood; Hanna Petrykowska; Laura Elnitski; Lucilene Arilho Ribeiro; Antonio Richieri-Costa; Benjamin Feldman; Ward F Odenwald; Maximilian Muenke

PLoS One San Fracisco v. 7, n. 7, p. e39026, July 2012

San Francisco 2012

Item não circula. Consulte sua biblioteca.(Acessar)

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Deste Autor:

  1. Muenke, M
  2. Richieri-Costa, A
  3. Roessler, E
  4. Kruszka, P
  5. Hu, P

Neste Assunto:

  1. Science & Technology
  2. Life Sciences & Biomedicine
  3. Humans
  4. Genetics & Heredity
  5. Biological And Medical Sciences

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

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