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Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling
Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling
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Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling

Erich Roessler Ping Hu; Juliana Marino; Sungkook Hong; Rachel Hart; Seth Berger; Ariel Martinez; Yu Abe; Paul Kruszka; James W Thomas; James C Mullikin NISC Comparative Sequencing Program; Yupeng Wang; Wendy S. W Wong; John E Niederhuber; Benjamin D Solomon; Antonio Richieri-Costa; Lucilene Arilho Ribeiro Bicudo; Maximilian Muenke

Human Mutation Hoboken v. 39, n. 10, p. 1416-1427, 2018

Hoboken 2018

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2
mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis
mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis
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mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis

Roessler, Erich ; El-Jaick, Kenia B ; Dubourg, Christèle ; Vélez, Jorge I ; Solomon, Benjamin D ; Pineda-Álvarez, Daniel E ; Lacbawan, Felicitas ; Zhou, Nan ; Ouspenskaia, Maia ; Paulussen, Aimée ; Smeets, Hubert J ; Hehr, Ute ; Bendavid, Claude ; Bale, Sherri ; Odent, Sylvie ; David, Véronique ; Muenke, Maximilian

Human mutation, 2009-10, Vol.30 (10), p.E921-E935 [Peer Reviewed Journal]

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

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Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF‐β, hedgehog, and FGF signaling
Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF‐β, hedgehog, and FGF signaling
Material Type:
Article 		Add to e-Shelf

Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF‐β, hedgehog, and FGF signaling

Roessler, Erich ; Hu, Ping ; Marino, Juliana ; Hong, Sungkook ; Hart, Rachel ; Berger, Seth ; Martinez, Ariel ; Abe, Yu ; Kruszka, Paul ; Thomas, James W. ; Mullikin, James C. ; Wang, Yupeng ; Wong, Wendy S.W. ; Niederhuber, John E. ; Solomon, Benjamin D. ; Richieri‐Costa, Antônio ; Ribeiro‐Bicudo, L.A. ; Muenke, Maximilian

Human mutation, 2018-10, Vol.39 (10), p.1416-1427 [Peer Reviewed Journal]

United States: Wiley Periodicals Inc

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by this author/creator:

  1. Hart, R
  2. NISC Comparative Sequencing Program
  3. Solomon, B
  4. Bicudo, L
  5. Martinez , A

on this subject:

  1. Genetics & Heredity
  2. Life Sciences & Biomedicine
  3. Science & Technology
  4. Holoprosencephaly
  5. Shh

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