Detalhe da pesquisa
1.
DISP1 deficiency: monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.
Genet Med
; : 101126, 2024 Mar 23.
Artigo
Inglês
| MEDLINE | ID: mdl-38529886
2.
Local retinoic acid signaling directs emergence of the extraocular muscle functional unit.
PLoS Biol
; 18(11): e3000902, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-33201874
3.
Synonymous variants in holoprosencephaly alter codon usage and impact the Sonic Hedgehog protein.
Brain
; 143(7): 2027-2038, 2020 07 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32542401
4.
Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.
Brain
; 142(1): 35-49, 2019 01 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30508070
5.
Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders.
Hum Genet
; 138(4): 363-374, 2019 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-30838450
6.
Recent advances in understanding inheritance of holoprosencephaly.
Am J Med Genet C Semin Med Genet
; 178(2): 258-269, 2018 06.
Artigo
Inglês
| MEDLINE | ID: mdl-29785796
7.
Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway.
Hum Mutat
; 37(12): 1329-1339, 2016 12.
Artigo
Inglês
| MEDLINE | ID: mdl-27363716
8.
Evolutionary Conservation of the Early Axon Scaffold in the Vertebrate Brain.
Dev Dyn
; 244(10): 1202-14, 2015 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-26228689
9.
Impact of Sonic Hedgehog-dependent sphenoid bone defect on craniofacial growth.
Clin Exp Dent Res
; 10(2): e861, 2024 04.
Artigo
Inglês
| MEDLINE | ID: mdl-38558491
10.
NOTCH, a new signaling pathway implicated in holoprosencephaly.
Hum Mol Genet
; 20(6): 1122-31, 2011 Mar 15.
Artigo
Inglês
| MEDLINE | ID: mdl-21196490
11.
New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.
J Med Genet
; 48(11): 752-60, 2011 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-21940735
12.
Holoprosencephaly: An update on cytogenetic abnormalities.
Am J Med Genet C Semin Med Genet
; 154C(1): 86-92, 2010 Feb 15.
Artigo
Inglês
| MEDLINE | ID: mdl-20104602
13.
Retinoic acid receptors exhibit cell-autonomous functions in cranial neural crest cells.
Dev Dyn
; 238(10): 2701-11, 2009 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-19777591
14.
Disrupted Hypothalamo-Pituitary Axis in Association With Reduced SHH Underlies the Pathogenesis of NOTCH-Deficiency.
J Clin Endocrinol Metab
; 105(9)2020 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32403133
15.
MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome.
Cell Rep
; 31(7): 107647, 2020 05 19.
Artigo
Inglês
| MEDLINE | ID: mdl-32433956
16.
Impairing retinoic acid signalling in the neural crest cells is sufficient to alter entire eye morphogenesis.
Dev Biol
; 320(1): 140-8, 2008 Aug 01.
Artigo
Inglês
| MEDLINE | ID: mdl-18539269
17.
Identification of a new type of PBX1 partner that contains zinc finger motifs and inhibits the binding of HOXA9-PBX1 to DNA.
Mech Dev
; 124(5): 364-76, 2007 May.
Artigo
Inglês
| MEDLINE | ID: mdl-17353115
18.
A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis.
Acta Neuropathol Commun
; 6(1): 109, 2018 10 19.
Artigo
Inglês
| MEDLINE | ID: mdl-30340542
19.
Regulation of downstream neuronal genes by proneural transcription factors during initial neurogenesis in the vertebrate brain.
Neural Dev
; 11(1): 22, 2016 12 07.
Artigo
Inglês
| MEDLINE | ID: mdl-27923395
20.
Homozygous STIL mutation causes holoprosencephaly and microcephaly in two siblings.
PLoS One
; 10(2): e0117418, 2015.
Artigo
Inglês
| MEDLINE | ID: mdl-25658757