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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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1992 | 1 |
2001 | 2 |
2005 | 1 |
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2019 | 1 |
2024 | 0 |
PubMed (OMIM) for id: 55733
7 results
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Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar-vermis hypoplasia.
Am J Med Genet A. 2019 Jun;179(6):1053-1057. doi: 10.1002/ajmg.a.61133. Epub 2019 Mar 26.
Am J Med Genet A. 2019.
PMID: 30912300
Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling.
Callier P, Calvel P, Matevossian A, Makrythanasis P, Bernard P, Kurosaka H, Vannier A, Thauvin-Robinet C, Borel C, Mazaud-Guittot S, Rolland A, Desdoits-Lethimonier C, Guipponi M, Zimmermann C, Stévant I, Kuhne F, Conne B, Santoni F, Lambert S, Huet F, Mugneret F, Jaruzelska J, Faivre L, Wilhelm D, Jégou B, Trainor PA, Resh MD, Antonarakis SE, Nef S.
Callier P, et al.
PLoS Genet. 2014 May 1;10(5):e1004340. doi: 10.1371/journal.pgen.1004340. eCollection 2014 May.
PLoS Genet. 2014.
PMID: 24784881
Free PMC article.
Item in Clipboard
Mutations in Hedgehog acyltransferase (Hhat) perturb Hedgehog signaling, resulting in severe acrania-holoprosencephaly-agnathia craniofacial defects.
Dennis JF, Kurosaka H, Iulianella A, Pace J, Thomas N, Beckham S, Williams T, Trainor PA.
Dennis JF, et al.
PLoS Genet. 2012;8(10):e1002927. doi: 10.1371/journal.pgen.1002927. Epub 2012 Oct 4.
PLoS Genet. 2012.
PMID: 23055936
Free PMC article.
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Unique survival in chrondrodysplasia-hermaphrodism syndrome.
Thauvin-Robinet C, Mugneret F, Callier P, Chouchane M, Garron E, Manceau E, Laurent N, Durand C, Nivelon-Chevallier A, Sapin E, Huet F, Faivre L.
Thauvin-Robinet C, et al.
Am J Med Genet A. 2005 Jan 30;132A(3):335-7. doi: 10.1002/ajmg.a.30417.
Am J Med Genet A. 2005.
PMID: 15578577
No abstract available.
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Skinny hedgehog, an acyltransferase required for palmitoylation and activity of the hedgehog signal.
Chamoun Z, Mann RK, Nellen D, von Kessler DP, Bellotto M, Beachy PA, Basler K.
Chamoun Z, et al.
Science. 2001 Sep 14;293(5537):2080-4. doi: 10.1126/science.1064437. Epub 2001 Aug 2.
Science. 2001.
PMID: 11486055
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Isolation of a new melanoma antigen, MART-2, containing a mutated epitope recognized by autologous tumor-infiltrating T lymphocytes.
Kawakami Y, Wang X, Shofuda T, Sumimoto H, Tupesis J, Fitzgerald E, Rosenberg S.
Kawakami Y, et al.
J Immunol. 2001 Feb 15;166(4):2871-7. doi: 10.4049/jimmunol.166.4.2871.
J Immunol. 2001.
PMID: 11160356
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New autosomal recessive chondrodysplasia--pseudohermaphrodism syndrome.
Nivelon A, Nivelon JL, Mabille JP, Maroteaux P, Feldman JP, Douvier S, Aymé S.
Nivelon A, et al.
Clin Dysmorphol. 1992 Oct;1(4):221-7.
Clin Dysmorphol. 1992.
PMID: 1342874
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