Found: 36
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Disruption of long-distance highly conserved noncoding elements in neurocristopathies.
- Published in:
- Annals of the New York Academy of Sciences, 2010, v. 1214, n. 1, p. 34, doi. 10.1111/j.1749-6632.2010.05878.x
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- Publication type:
- Article
Role of Dlx genes in craniofacial morphogenesis: Dlx2 influences skeletal patterning by inducing ectomesenchymal aggregation in ovo.
- Published in:
- Evolution & Development, 2010, v. 12, n. 5, p. 459, doi. 10.1111/j.1525-142X.2010.00432.x
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- Publication type:
- Article
Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 481, doi. 10.1038/ejhg.2014.132
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- Publication type:
- Article
Reply: MN1 gene loss-of-function mutation causes cleft palate in a pedigree.
- Published in:
- 2021
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- Publication type:
- letter
Efficiency of prenatal diagnosis in Pierre Robin sequence.
- Published in:
- 2017
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- Publication type:
- journal article
Enhancer mutations and phenotype modularity.
- Published in:
- Nature Genetics, 2014, v. 46, n. 1, p. 3, doi. 10.1038/ng.2861
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- Publication type:
- Article
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.
- Published in:
- Nature Genetics, 2009, v. 41, n. 3, p. 359, doi. 10.1038/ng.329
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- Publication type:
- Article
Functional Assessment of Disease-Associated Regulatory Variants In Vivo Using a Versatile Dual Colour Transgenesis Strategy in Zebrafish.
- Published in:
- PLoS Genetics, 2015, v. 11, n. 6, p. 1, doi. 10.1371/journal.pgen.1005193
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- Publication type:
- Article
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-05191-8
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- Publication type:
- Article
Understanding the basis of auriculocondylar syndrome: Insights from human, mouse and zebrafish genetic studies.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2013, v. 163C, n. 4, p. 306, doi. 10.1002/ajmg.c.31376
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- Publication type:
- Article
Un gène codant une métalloprotéase impliqué dans l’hétérotaxie.
- Published in:
- Médecine Sciences, 2016, v. 32, n. 6, p. 551, doi. 10.1051/medsci/20163206007
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- Publication type:
- Article
<i>bfb</i>, a Novel ENU-Induced <i>blebs</i> Mutant Resulting from a Missense Mutation in <i>Fras1</i>.
- Published in:
- PLoS ONE, 2013, v. 8, n. 10, p. 1, doi. 10.1371/journal.pone.0076342
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- Publication type:
- Article
Genome-Wide ENU Mutagenesis in Combination with High Density SNP Analysis and Exome Sequencing Provides Rapid Identification of Novel Mouse Models of Developmental Disease.
- Published in:
- PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0055429
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- Publication type:
- Article
A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0299-5
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- Publication type:
- Article
A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 84, doi. 10.1186/s13023-015-0299-5
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- Publication type:
- Article
A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia.
- Published in:
- 2015
- By:
- Publication type:
- journal article
SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite.
- Published in:
- Nucleic Acids Research, 2019, v. 47, n. 6, p. 2822, doi. 10.1093/nar/gkz005
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- Publication type:
- Article
Phenotypic variability of distal 22q11.2 copy number abnormalities.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1623, doi. 10.1002/ajmg.a.34051
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- Publication type:
- Article
YPEL1 overexpression in early avian craniofacial mesenchyme causes mandibular dysmorphogenesis by up-regulating apoptosis.
- Published in:
- Developmental Dynamics, 2015, v. 244, n. 8, p. 1022, doi. 10.1002/dvdy.24299
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- Publication type:
- Article
The RCAS retroviral expression system in the study of skeletal development.
- Published in:
- Developmental Dynamics, 2009, v. 238, n. 4, p. 797, doi. 10.1002/dvdy.21907
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- Publication type:
- Article
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.
- Published in:
- Human Mutation, 2022, v. 43, n. 5, p. 582, doi. 10.1002/humu.24349
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- Publication type:
- Article
EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion‐Almeida type.
- Published in:
- Human Mutation, 2020, v. 41, n. 8, p. 1372, doi. 10.1002/humu.24027
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- Publication type:
- Article
Identification of Novel Craniofacial Regulatory Domains Located far Upstream of SOX9 and Disrupted in Pierre Robin Sequence.
- Published in:
- Human Mutation, 2014, v. 35, n. 8, p. 1011, doi. 10.1002/humu.22606
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- Publication type:
- Article
Delineation of EFTUD2 Haploinsufficiency-Related Phenotypes Through a Series of 36 Patients.
- Published in:
- Human Mutation, 2014, v. 35, n. 4, p. 478, doi. 10.1002/humu.22517
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- Publication type:
- Article
Congenital Heart Defects in Patients with Deletions Upstream of SOX9.
- Published in:
- Human Mutation, 2013, v. 34, n. 12, p. 1628, doi. 10.1002/humu.22449
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- Publication type:
- Article
Germline gain-of-function mutations of ALK disrupt central nervous system development.
- Published in:
- Human Mutation, 2011, v. 32, n. 3, p. 272, doi. 10.1002/humu.21442
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- Publication type:
- Article
Cis-ruptions d'éléments génomiques hautement conservés non codants à distance du gène SOX9 dans Ia séquence de Pierre Robin.
- Published in:
- Biologie Aujourd'hui, 2011, v. 205, n. 2, p. 111, doi. 10.1051/jbio/2011010
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- Publication type:
- Article
Broadening the phenotypic spectrum of EVEN‐PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2819, doi. 10.1002/ajmg.a.62883
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- Publication type:
- Article
A novel de novo PDGFRB variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1304, doi. 10.1002/ajmg.a.61151
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- Publication type:
- Article
Novel de novo <italic>ZBTB20</italic> mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1091, doi. 10.1002/ajmg.a.38684
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- Publication type:
- Article
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 181, doi. 10.1002/ajmg.a.38536
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- Publication type:
- Article
Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 938, doi. 10.1002/ajmg.a.38101
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- Publication type:
- Article
Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1471, doi. 10.1002/ajmg.a.37625
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- Publication type:
- Article
Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1850, doi. 10.1002/ajmg.a.36505
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- Publication type:
- Article
Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2339, doi. 10.1002/ajmg.a.36066
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- Publication type:
- Article
Heterozygous Mutations in TBX1 as a Cause of Isolated Hypoparathyroidism.
- Published in:
- 2018
- By:
- Publication type:
- journal article