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Molecular Bases of Human Malformation Syndromes Involving the SHH Pathway: GLIA/R Balance and Cardinal Phenotypes 期刊论文
发表期刊: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 出版年: 2021, 卷号: 22, 期号: 23
作者:  Niida, Yo;  Togi, Sumihito;  Ura, Hiroki
收藏  |  浏览/下载:29/0  |  提交时间:2022/02/12
SHH pathway  GLI family zinc finger protein  human malformation syndromes  polydactyly  primary cilium  
A familial syndrome of hypothalamic hamartomas, polydactyly, and SMO mutations: a clinical report of 2 cases 期刊论文
发表期刊: JOURNAL OF NEUROSURGERY-PEDIATRICS. 出版年: 2019, 卷号: 23, 期号: 1, 页码: 98-103
作者:  Rubino, Sebastian;  Qian, Jiang;  Pinheiro-Neto, Carlos D.;  Kenning, Tyler J.;  Adamo, Matthew A.
收藏  |  浏览/下载:5/0  |  提交时间:2019/11/29
hypothalamic hamartoma  Smoothened gene  SMO  Chiari malformation type I  gelastic/dacrystic seizures  oncology  
Prehistoric polydactylism: Biological evidence and rock art representation from the Atacama Desert in northern Chile 期刊论文
发表期刊: INTERNATIONAL JOURNAL OF PALEOPATHOLOGY. 出版年: 2018, 卷号: 22, 页码: 54-65
作者:  Standen, Vivien G.;  Santoro, Calogero M.;  Arriaza, Bernardo;  Valenzuela, Daniela;  Coleman, Drew;  Monsalve, Susana
收藏  |  浏览/下载:4/0  |  提交时间:2019/11/29
Polydactyly  Chinchorro mummies  Chronic arsenic poisoning  Strontium isotopes  Endogamy  
A review of hedgehog signaling in cranial bone development 期刊论文
发表期刊: FRONTIERS IN PHYSIOLOGY. 出版年: 2013, 卷号: 4
作者:  Pan, Angel;  Chang, Le;  Alan Nguyen;  James, Aaron W.
收藏  |  浏览/下载:8/0  |  提交时间:2019/11/29
craniofacial abnormalities  Sonic Hedgehog (SHH)  Indian Hedgehog (IHH)  cranial suture patterning/signaling  calvarial bone differentiation  
Implication of long-distance regulation of the HOXA cluster in a patient with postaxial polydactyly 期刊论文
发表期刊: CHROMOSOME RESEARCH. 出版年: 2009, 卷号: 17, 期号: 6, 页码: 737-744
作者:  Lodder, Elisabeth M.;  Eussen, Bert H.;  van Hassel, Daniella A. C. M.;  Hoogeboom, A. Jeannette M.;  Poddighe, Pino J.;  Coert, J. Henk;  Oostra, Ben A.;  de Klein, Annelies;  de Graaff, Esther
收藏  |  浏览/下载:5/0  |  提交时间:2019/11/28
pericentric chromosomal inversion  postaxial polysyndactyly  congenital malformation  chromosome 7  HOXA cluster  
ARSENIASIS AND TERATOGENIC ANOMALIES IN THE ATACAMA DESERT COAST OF ANCIENT CHILE 期刊论文
发表期刊: INTERCIENCIA. 出版年: 2009, 卷号: 34, 期号: 5, 页码: 338-343
作者:  Boston, Christine E.;  Arriaza, Bernardo T.
收藏  |  浏览/下载:5/0  |  提交时间:2019/11/28
Arsenic  Atacama Desert  Mummies  Paleopathology