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Mutant p63 causes defective expansion of ectodermal progenitor cells and impaired FGF signalling in AEC syndrome.
- Published in:
- EMBO Molecular Medicine, 2012, v. 4, n. 3, p. 192, doi. 10.1002/emmm.201100199
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- Publication type:
- Article
SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. 5153, doi. 10.1093/brain/awad245
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- Publication type:
- Article
Cooperation between the transcription factors p63 and IRF6 is essential to prevent cleft palate in mice.
- Published in:
- 2010
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- Publication type:
- journal article
Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 8, p. 721, doi. 10.1007/s10038-006-0010-8
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- Publication type:
- Article
COMPUTERIZED NEUROCOGNITIVE ASSESSMENT IN RARE GENETIC DISORDERS WITH MODERATE TO PROFOUND INTELLECTUAL DISABILITIES: A PROOF OF PRINCIPLE STUDY.
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- Clinical Neuropsychiatry, 2018, v. 15, n. 6, p. 325
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- Publication type:
- Article
Genomic approaches for studying craniofacial disorders.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2013, v. 163C, n. 4, p. 218, doi. 10.1002/ajmg.c.31379
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- Publication type:
- Article
Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemia.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1813, doi. 10.1002/ajmg.a.38274
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- Publication type:
- Article
Adaptive and maladaptive functioning in Kleefstra syndrome compared to other rare genetic disorders with intellectual disabilities.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1821, doi. 10.1002/ajmg.a.38280
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- Publication type:
- Article
Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 455, doi. 10.1002/ajmg.a.34428
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- Publication type:
- Article
A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopia.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3144, doi. 10.1002/ajmg.a.34311
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- Publication type:
- Article
TAp63 Is Important for Cardiac Differentiation of Embryonic Stem Cells and Heart Development.
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- Stem Cells, 2011, v. 29, n. 11, p. 1672, doi. 10.1002/stem.723
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- Publication type:
- Article
Mutations in the pre-replication complex cause Meier-Gorlin syndrome.
- Published in:
- Nature Genetics, 2011, v. 43, n. 4, p. 356, doi. 10.1038/ng.775
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- Publication type:
- Article
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H<sup>+</sup>-ATPase subunit ATP6V0A2.
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- Nature Genetics, 2008, v. 40, n. 1, p. 32, doi. 10.1038/ng.2007.45
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- Publication type:
- Article
Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.
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- Nature Genetics, 2006, v. 38, n. 8, p. 917, doi. 10.1038/ng1845
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- Publication type:
- Article
Erratum: Mutations in different components of FGF signaling in LADD syndrome.
- Published in:
- 2006
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- Publication type:
- Correction Notice
Mutations in different components of FGF signaling in LADD syndrome.
- Published in:
- Nature Genetics, 2006, v. 38, n. 4, p. 414, doi. 10.1038/ng1757
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- Publication type:
- Article
MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.
- Published in:
- Nature Genetics, 2005, v. 37, n. 5, p. 465, doi. 10.1038/ng1546
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- Publication type:
- Article
Dominant isolated renal magnesium loss is caused by misrouting of the Na<sup>+</sup>,K<sup>+</sup>-ATPase γ-subunit.
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- Nature Genetics, 2000, v. 26, n. 3, p. 265, doi. 10.1038/81543
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- Publication type:
- Article
Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation.
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- Nature Genetics, 2000, v. 26, n. 2, p. 247, doi. 10.1038/80002
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- Publication type:
- Article
Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome.
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- Nature Genetics, 2000, v. 25, n. 4, p. 423, doi. 10.1038/78113
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- Publication type:
- Article
Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.
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- PLoS Genetics, 2017, v. 13, n. 10, p. 1, doi. 10.1371/journal.pgen.1006864
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- Publication type:
- Article
PLEXIN-D1, a novel plexin family member, is expressed in vascular endothelium and the central nervous system during mouse embryogenesis.
- Published in:
- Developmental Dynamics, 2002, v. 225, n. 3, p. 336, doi. 10.1002/dvdy.10159
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- Publication type:
- Article
Split-hand/split-foot malformation with paternal mutation in the p63 gene.
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- Prenatal Diagnosis, 2001, v. 21, n. 13, p. 1119, doi. 10.1002/pd.181
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- Publication type:
- Article
Haploinsufficiency of EHMT1 improves pattern separation and increases hippocampal cell proliferation.
- Published in:
- Scientific Reports, 2017, p. 40284, doi. 10.1038/srep40284
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- Publication type:
- Article
Euchromatin histone methyltransferase 1 regulates cortical neuronal network development.
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- Scientific Reports, 2016, p. 35756, doi. 10.1038/srep35756
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- Publication type:
- Article
Exome Sequencing Identifies Three Novel Candidate Genes Implicated in Intellectual Disability.
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- PLoS ONE, 2014, v. 9, n. 11, p. 1, doi. 10.1371/journal.pone.0112687
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- Publication type:
- Article
CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation.
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- Human Genetics, 2010, v. 128, n. 3, p. 281, doi. 10.1007/s00439-010-0848-x
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- Publication type:
- Article
Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.
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- Human Genetics, 2007, v. 121, n. 6, p. 685, doi. 10.1007/s00439-007-0362-y
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- Publication type:
- Article
Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region.
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- Human Genetics, 2007, v. 121, n. 5, p. 539, doi. 10.1007/s00439-007-0343-1
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- Publication type:
- Article
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation.
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- Human Genetics, 2006, v. 118, n. 5, p. 578, doi. 10.1007/s00439-005-0072-2
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- Publication type:
- Article
Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-12947-3
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- Publication type:
- Article
A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.
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- European Journal of Human Genetics, 2014, v. 22, n. 4, p. 480, doi. 10.1038/ejhg.2013.169
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- Publication type:
- Article
A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype.
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- European Journal of Human Genetics, 2013, v. 21, n. 8, p. 844, doi. 10.1038/ejhg.2012.257
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- Publication type:
- Article
Homozygosity mapping in outbred families with mental retardation.
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- European Journal of Human Genetics, 2011, v. 19, n. 5, p. 597, doi. 10.1038/ejhg.2010.167
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- Publication type:
- Article
Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.
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- European Journal of Human Genetics, 2010, v. 18, n. 4, p. 429, doi. 10.1038/ejhg.2009.192
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- Publication type:
- Article
Characterization of two ectrodactyly-associated translocation breakpoints separated by 2.5 Mb on chromosome 2q14.1–q14.2.
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- European Journal of Human Genetics, 2009, v. 17, n. 8, p. 1024, doi. 10.1038/ejhg.2009.2
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- Publication type:
- Article
MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression.
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- European Journal of Human Genetics, 2008, v. 16, n. 9, p. 1029, doi. 10.1038/ejhg.2008.66
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- Publication type:
- Article
Refinement of the locus for hereditary congenital facial palsy on chromosome 3q21 in two unrelated families and screening of positional candidate genes.
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- European Journal of Human Genetics, 2006, v. 14, n. 12, p. 1306, doi. 10.1038/sj.ejhg.5201706
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- Publication type:
- Article
Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene.
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- European Journal of Human Genetics, 2006, v. 14, n. 8, p. 904, doi. 10.1038/sj.ejhg.5201640
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- Publication type:
- Article
Genotype–phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy.
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- European Journal of Human Genetics, 2005, v. 13, n. 8, p. 935, doi. 10.1038/sj.ejhg.5201446
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- Publication type:
- Article
MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics.
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- European Journal of Human Genetics, 2004, v. 12, n. 1, p. 24, doi. 10.1038/sj.ejhg.5201080
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- Publication type:
- Article
A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.
- Published in:
- Brain: A Journal of Neurology, 2010, v. 133, n. 11, p. 3210, doi. 10.1093/brain/awq261
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- Publication type:
- Article
Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-LRibitol Pyrophosphorylase A Muscular Dystrophy.
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- Clinical Chemistry, 2019, v. 65, n. 10, p. 1295, doi. 10.1373/clinchem.2019.305391
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- Publication type:
- Article
Biallelic loss of EMC10 leads to mild to severe intellectual disability.
- Published in:
- Annals of Clinical & Translational Neurology, 2022, v. 9, n. 7, p. 1080, doi. 10.1002/acn3.51602
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- Publication type:
- Article
Comparison of 12 Reference Genes for Normalization of Gene Expression Levels in Epstein-Barr Virus-Transformed Lymphoblastoid Cell Lines and Fibroblasts.
- Published in:
- Molecular Diagnosis & Therapy, 2006, v. 10, n. 3, p. 197, doi. 10.1007/BF03256458
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- Publication type:
- Article
A Mutation in TP63 Causing a Mild Ectodermal Dysplasia Phenotype.
- Published in:
- Journal of Investigative Dermatology, 2014, v. 134, n. 8, p. 2277, doi. 10.1038/jid.2014.159
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- Publication type:
- Article
The complexities of CACNA1A in clinical neurogenetics.
- Published in:
- Journal of Neurology, 2022, v. 269, n. 6, p. 3094, doi. 10.1007/s00415-021-10897-9
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- Publication type:
- Article
WNT5A mutations in patients with autosomal dominant Robinow syndrome.
- Published in:
- Developmental Dynamics, 2010, v. 239, n. 1, p. 327, doi. 10.1002/dvdy.22156
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- Publication type:
- Article
End-stage renal failure, reflux nephropathy and Feingold’s syndrome.
- Published in:
- 2008
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- Publication type:
- Report
The phenomenal epigenome in neurodevelopmental disorders.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. R1, p. R42, doi. 10.1093/hmg/ddaa175
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- Publication type:
- Article