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An FDA-Approved Drug Screen for Compounds Influencing Craniofacial Skeletal Development and Craniosynostosis.
- Published in:
- Molecular Syndromology, 2019, v. 10, n. 1/2, p. 98, doi. 10.1159/000491567
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- Article
Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice.
- Published in:
- 2009
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- Publication type:
- journal article
Clinical and molecular effects of CHD7 in the heart.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2017, v. 175, n. 4, p. 487, doi. 10.1002/ajmg.c.31590
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- Publication type:
- Article
Molecular genetics of 22q11.2 deletion syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2070, doi. 10.1002/ajmg.a.40504
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- Publication type:
- Article
CHD7 Maintains Neural Stem Cell Quiescence and Prevents Premature Stem Cell Depletion in the Adult Hippocampus.
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- Stem Cells, 2015, v. 33, n. 1, p. 196, doi. 10.1002/stem.1822
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- Publication type:
- Article
IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.
- Published in:
- Nature Genetics, 2007, v. 39, n. 6, p. 727, doi. 10.1038/ng2038
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- Publication type:
- Article
Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs.
- Published in:
- Nature Genetics, 2005, v. 37, n. 5, p. 520, doi. 10.1038/ng1549
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- Publication type:
- Article
A direct functional link between the multi-PDZ domain protein GRIP1 and the Fraser syndrome protein Fras1.
- Published in:
- Nature Genetics, 2004, v. 36, n. 2, p. 172, doi. 10.1038/ng1292
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- Publication type:
- Article
Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice.
- Published in:
- Nature Genetics, 2003, v. 34, n. 2, p. 209, doi. 10.1038/ng1168
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- Publication type:
- Article
Generation of mice with a conditional null fraser syndrome 1 ( Fras1) allele.
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- Genesis: The Journal of Genetics & Development, 2012, v. 50, n. 12, p. 892, doi. 10.1002/dvg.22045
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- Publication type:
- Article
Generation of mice with a conditional null fraser syndrome 1 ( fras1) allele.
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- Genesis: The Journal of Genetics & Development, 2012, v. 50, n. 11, p. 851, doi. 10.1002/dvg.22356
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- Publication type:
- Article
Diffusion microscopic MRI of the mouse embryo: Protocol and practical implementation in the splotch mouse model.
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- Magnetic Resonance in Medicine, 2015, v. 73, n. 2, p. 731, doi. 10.1002/mrm.25145
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- Publication type:
- Article
In Amnio MRI of Mouse Embryos.
- Published in:
- PLoS ONE, 2014, v. 9, n. 10, p. 1, doi. 10.1371/journal.pone.0109143
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- Publication type:
- Article
Hearing Loss in a Mouse Model of 22q11.2 Deletion Syndrome.
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- PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0080104
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- Publication type:
- Article
Endogenous Retinoic Acid Activity in Principal Cells and Intercalated Cells of Mouse Collecting Duct System.
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- PLoS ONE, 2011, v. 6, n. 2, p. 1, doi. 10.1371/journal.pone.0016770
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- Publication type:
- Article
Tbx1 Regulates the BMP-Smad1 Pathway in a Transcription Independent Manner.
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- PLoS ONE, 2009, v. 4, n. 6, p. 1, doi. 10.1371/journal.pone.0006049
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- Publication type:
- Article
Cardiac phenotyping in ex vivo murine embryos using µMRI.
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- NMR in Biomedicine, 2009, v. 22, n. 8, p. 857, doi. 10.1002/nbm.1400
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- Publication type:
- Article
HIRA directly targets the enhancers of selected cardiac transcription factors during in vitro differentiation of mouse embryonic stem cells.
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- Molecular Biology Reports, 2018, v. 45, n. 5, p. 1001, doi. 10.1007/s11033-018-4247-z
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- Publication type:
- Article
22q11 Deletion Syndrome: A Role for TBX1 in Pharyngeal and Cardiovascular Development.
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- Pediatric Cardiology, 2010, v. 31, n. 3, p. 378, doi. 10.1007/s00246-009-9613-0
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- Publication type:
- Article
CHARGE syndrome-associated CHD7 acts at ISL1-regulated enhancers to modulate second heart field gene expression.
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- Cardiovascular Research, 2023, v. 119, n. 11, p. 2089, doi. 10.1093/cvr/cvad059
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- Publication type:
- Article
Neural crest-derived SEMA3C activates endothelial NRP1 for cardiac outflow tract septation.
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- Journal of Clinical Investigation, 2015, v. 125, n. 7, p. 2661, doi. 10.1172/JCI79668
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- Publication type:
- Article
Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.
- Published in:
- Nature Communications, 2016, v. 7, n. 3, p. 11270, doi. 10.1038/ncomms11270
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- Publication type:
- Article
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.
- Published in:
- Nature Communications, 2015, v. 6, n. 6, p. 7074, doi. 10.1038/ncomms8074
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- Publication type:
- Article
XTbx1 is a transcriptional activator involved in head and pharyngeal arch development in Xenopus laevis.
- Published in:
- Developmental Dynamics, 2005, v. 232, n. 4, p. 979
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- Publication type:
- Article
Retinoic acid down-regulates Tbx1 expression in vivo and in vitro.
- Published in:
- Developmental Dynamics, 2005, v. 232, n. 4, p. 928
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- Publication type:
- Article
Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mince.
- Published in:
- Nature, 2001, v. 410, n. 6824, p. 97, doi. 10.1038/35065105
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- Publication type:
- Article
DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 3, p. 529, doi. 10.1093/hmg/ddx422
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- Publication type:
- Article
HIRA Is Required for Heart Development and Directly Regulates Tnni2 and Tnnt3.
- Published in:
- PLoS ONE, 2016, v. 11, n. 8, p. 1, doi. 10.1371/journal.pone.0161096
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- Publication type:
- Article
Increased nuchal translucency origins from abnormal lymphatic development and is independent of the presence of a cardiac defect.
- Published in:
- 2015
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- Publication type:
- journal article
Enhanced tissue differentiation in the developing mouse brain using magnetic resonance micro-histology.
- Published in:
- Magnetic Resonance in Medicine, 2013, v. 70, n. 5, p. 1380, doi. 10.1002/mrm.24573
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- Publication type:
- Article
Segmentation propagation using a 3D embryo atlas for high-throughput MRI phenotyping: Comparison and validation with manual segmentation.
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- Magnetic Resonance in Medicine, 2013, v. 69, n. 3, p. 877, doi. 10.1002/mrm.24306
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- Publication type:
- Article
SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 8, p. 1547, doi. 10.1093/hmg/ddr032
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- Publication type:
- Article
An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 7, p. 1306, doi. 10.1093/hmg/ddr013
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- Publication type:
- Article
Fras1, a basement membrane-associated protein mutated in Fraser syndrome, mediates both the initiation of the mammalian kidney and the integrity of renal glomeruli.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 24, p. 3953, doi. 10.1093/hmg/ddn297
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- Publication type:
- Article
Cyp26 genes a1, b1 and c1 are down-regulated in Tbx1 null mice and inhibition of Cyp26 enzyme function produces a phenocopy of DiGeorge Syndrome in the chick.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 23, p. 3394, doi. 10.1093/hmg/ddl416
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- Publication type:
- Article
Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase.
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- Human Molecular Genetics, 2005, v. 14, n. 8, p. 1077, doi. 10.1093/hmg/ddi120
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- Publication type:
- Article
Common arterial trunk associated with a homeodomain mutation of NKX2.6.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 5, p. 585, doi. 10.1093/hmg/ddi055
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- Publication type:
- Article
The 22q11 deletion syndromes.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 16, doi. 10.1093/hmg/9.16.2421
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- Publication type:
- Article
Deletion of 150 kb in the minimal DiGeorge/velocardiofacial syndrome critical region in mouse.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 12, p. 2229, doi. 10.1093/hmg/8.12.2229
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- Publication type:
- Article
Loss of CXCL12/CXCR4 signalling impacts several aspects of cardiovascular development but does not exacerbate Tbx1 haploinsufficiency.
- Published in:
- PLoS ONE, 2018, v. 13, n. 11, p. 1, doi. 10.1371/journal.pone.0207251
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- Publication type:
- Article
HIRA, a mammalian homologue of Saccharomyces cerevisiae transcriptional co-repressors, interacts with Pax3.
- Published in:
- Nature Genetics, 1998, v. 20, n. 1, p. 74, doi. 10.1038/1739
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- Publication type:
- Article
Evaluation of multiplex capillary heteroduplex analysis: A rapid and sensitive mutation screening technique (Communicated by Mireille Claustres).
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 151, doi. 10.1002/humu.10241
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- Publication type:
- Article
Evaluation of multiplex capillary heteroduplex analysis: A rapid and sensitive mutation screening techniqueCommunicated by Mireille Claustres.
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 151, doi. 10.1002/humu.10241
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- Publication type:
- Article
A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome.
- Published in:
- Human Mutation, 2002, v. 19, n. 5, p. 573, doi. 10.1002/humu.9036
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- Publication type:
- Article
Engineering a broken heart.
- Published in:
- Nature, 1999, v. 401, n. 6751, p. 335, doi. 10.1038/43804
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- Publication type:
- Article
ES2, a gene deleted in DiGeorge syndrome, encodes a nuclear protein and is expressed during early mouse development, where it shares an expression domain with a Goosecoid-like gene.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 4, p. 629, doi. 10.1093/hmg/7.4.629
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- Publication type:
- Article
Cloning and Developmental Expression Analysis of Chick Hira (Chira), a Candidate Gene for DiGeorge Syndrome.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 2, p. 237, doi. 10.1093/hmg/6.2.237
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- Publication type:
- Article
Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 12, p. 2099
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- Publication type:
- Article
Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 2, p. 191
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- Publication type:
- Article