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Partial COL1A2 gene duplication produces features of osteogenesis imperfecta and Ehlers-Danlos syndrome type VII.
- Published in:
- Human Genetics, 2000, v. 106, n. 1, p. 19, doi. 10.1007/s004390051004
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- Publication type:
- Article
Postpartum coma and death due to carbamoyl-phosphate synthetase I deficiency.
- Published in:
- 1994
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- Publication type:
- journal article
Correction: Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes.
- Published in:
- 2017
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- Publication type:
- Correction Notice
Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis.
- Published in:
- Journal of Human Genetics, 2011, v. 56, n. 12, p. 834, doi. 10.1038/jhg.2011.112
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- Publication type:
- Article
Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148.
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- Human Molecular Genetics, 2012, v. 21, n. 15, p. 3345, doi. 10.1093/hmg/dds166
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- Publication type:
- Article
Generation of a novel mouse model that recapitulates early and adult onset glycogenosis type IV.
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- Human Molecular Genetics, 2011, v. 20, n. 22, p. 4430, doi. 10.1093/hmg/ddr371
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- Publication type:
- Article
Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 5, p. 861, doi. 10.1093/hmg/ddn411
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- Publication type:
- Article
Novel cardiovascular findings in association with a POMT2 mutation: three siblings with α-dystroglycanopathy.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 4, p. 486, doi. 10.1038/ejhg.2013.165
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- Publication type:
- Article
Mitochondrial Dysfunction Mediated by Poly(ADP-Ribose) Polymerase-1 Activation Contributes to Hippocampal Neuronal Damage Following Status Epilepticus.
- Published in:
- International Journal of Molecular Sciences, 2017, v. 18, n. 7, p. 1502, doi. 10.3390/ijms18071502
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- Publication type:
- Article
Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44.
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- European Journal of Human Genetics, 2012, v. 20, n. 2, p. 176, doi. 10.1038/ejhg.2011.171
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- Publication type:
- Article
Knockout of Vdac1 activates hypoxia-inducible factor through reactive oxygen species generation and induces tumor growth by promoting metabolic reprogramming and inflammation.
- Published in:
- Cancer & Metabolism, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40170-015-0133-5
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- Publication type:
- Article
Expression of peptide chain release factor 2 requires high-efficiency frameshift.
- Published in:
- Nature, 1986, v. 322, n. 6076, p. 273, doi. 10.1038/322273a0
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- Publication type:
- Article
Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes.
- Published in:
- PLoS ONE, 2010, v. 5, n. 12, p. 1, doi. 10.1371/journal.pone.0015687
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- Publication type:
- Article
Deletion of VDAC1 Hinders Recovery of Mitochondrial and Renal Functions After Acute Kidney Injury.
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- Biomolecules (2218-273X), 2020, v. 10, n. 4, p. 585, doi. 10.3390/biom10040585
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- Publication type:
- Article
Voltage-dependent anion channels are dispensable for mitochondrial-dependent cell death.
- Published in:
- Nature Cell Biology, 2007, v. 9, n. 5, p. 550, doi. 10.1038/ncb1575
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- Publication type:
- Article
Corrigendum: 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis.
- Published in:
- 2020
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- Publication type:
- Correction Notice
Activation of cardiac Cdk9 represses PGC-1 and confers a predisposition to heart failure.
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- EMBO Journal, 2004, v. 23, n. 17, p. 3559, doi. 10.1038/sj.emboj.7600351
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- Publication type:
- Article
Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing.
- Published in:
- 2021
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- Publication type:
- journal article
Childhood onset of left ventricular dysfunction in a female manifesting carrier of muscular dystrophy.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3025, doi. 10.1002/ajmg.a.33784
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- Publication type:
- Article
Noncompaction of the left ventricular myocardium in a boy with a novel chromosome 8p23.1 deletion.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2215, doi. 10.1002/ajmg.a.34129
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- Publication type:
- Article
Identification of complex chromosome 18 rearrangements by FISH and array CGH in two patients with apparent isochromosome 18q.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1465, doi. 10.1002/ajmg.a.33935
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- Publication type:
- Article
Left ventricular noncompaction in Sotos syndrome.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1115, doi. 10.1002/ajmg.a.33838
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- Publication type:
- Article
Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology.
- Published in:
- BMC Medical Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2350-14-83
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- Publication type:
- Article
SNP genotyping to screen for a common deletion in CHARGE Syndrome.
- Published in:
- BMC Medical Genetics, 2005, v. 6, p. 8, doi. 10.1186/1471-2350-6-8
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- Publication type:
- Article
Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles.
- Published in:
- Human Mutation, 1998, v. 11, n. 4, p. 286, doi. 10.1002/(SICI)1098-1004(1998)11:4<286::AID-HUMU6>3.0.CO;2-B
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- Publication type:
- Article
Evidences of a Direct Relationship between Cellular Fuel Supply and Ciliogenesis Regulated by Hypoxic VDAC1-ΔC.
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- Cancers, 2020, v. 12, n. 11, p. 3484, doi. 10.3390/cancers12113484
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- Publication type:
- Article
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).
- Published in:
- Brain: A Journal of Neurology, 2010, v. 133, n. 7, p. 2148, doi. 10.1093/brain/awq143
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- Publication type:
- Article
Clinical and laboratory interpretation of mitochondrial mRNA variants.
- Published in:
- Human Mutation, 2020, v. 41, n. 10, p. 1783, doi. 10.1002/humu.24082
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- Publication type:
- Article
Transition to Next Generation Analysis of the Whole Mitochondrial Genome: A Summary of Molecular Defects.
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- Human Mutation, 2013, v. 34, n. 6, p. 882, doi. 10.1002/humu.22307
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- Publication type:
- Article
SURF1-associated leigh syndrome: A case series and novel mutations.
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- Human Mutation, 2012, v. 33, n. 8, p. 1192, doi. 10.1002/humu.22095
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- Publication type:
- Article
VDAC2 is required for truncated BID-induced mitochondrial apoptosis by recruiting BAK to the mitochondria.
- Published in:
- EMBO Reports, 2009, v. 10, n. 12, p. 1341, doi. 10.1038/embor.2009.219
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- Publication type:
- Article
A novel mouse model that recapitulates adult-onset glycogenosis type 4.
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- Human Molecular Genetics, 2015, v. 24, n. 23, p. 6801, doi. 10.1093/hmg/ddv385
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- Publication type:
- Article
PAK1 c.1409 T > a (p. Leu470Gln) de novo variant affects the protein kinase domain, leading to epilepsy, macrocephaly, spastic quadriplegia, and hydrocephalus: Case report and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1619, doi. 10.1002/ajmg.a.63177
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- Publication type:
- Article
A novel de novo intronic variant in ITPR1 causes Gillespie syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2315, doi. 10.1002/ajmg.a.62232
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- Publication type:
- Article
X-Linked Glycerol Kinase Deficiency in the Mouse Leads to Growth Retardation, Altered Fat Metabolism, Autonomous Glucocorticoid Secretion and Neonatal Death.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 11, p. 1803, doi. 10.1093/hmg/6.11.1803
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- Publication type:
- Article
Identification of Two Mutations in a Compound Heterozygous Child with Dihydrolipoamide Dehydrogenase Deficiency.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 12, p. 1925, doi. 10.1093/hmg/5.12.1925
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- Publication type:
- Article