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Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0235-8
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- Publication type:
- Article
Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders.
- Published in:
- 2014
- By:
- Publication type:
- Letter to the Editor
Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
The Human Phenotype Ontology in 2017.
- Published in:
- Nucleic Acids Research, 2017, v. 45, n. D1, p. D865, doi. 10.1093/nar/gkw1039
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- Publication type:
- Article
Naturally occurring splice variants dissect the functional domains of BHC80 and emphasize the need for RNA analysis.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63548
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- Publication type:
- Article
Are CUL3 variants an underreported cause of congenital heart disease?
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2903, doi. 10.1002/ajmg.a.63387
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- Publication type:
- Article
Generation of tandem alternative splice acceptor sites and CLTC haploinsufficiency: A cause of CLTC‐related disorder.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2219, doi. 10.1002/ajmg.a.63249
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- Publication type:
- Article
Do PACS1 variants impeding adaptor protein binding predispose to syndromic intellectual disability?
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2181, doi. 10.1002/ajmg.a.63232
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- Publication type:
- Article
NOTCH1 loss of the TAD and PEST domain: An antimorph?
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1593, doi. 10.1002/ajmg.a.63167
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- Publication type:
- Article
Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated Peutz–Jeghers syndrome?
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 3089, doi. 10.1002/ajmg.a.62942
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- Publication type:
- Article
Long‐read genome sequencing resolves a complex 13q structural variant associated with syndromic anophthalmia.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1589, doi. 10.1002/ajmg.a.62676
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- Publication type:
- Article
An infant with congenital respiratory insufficiency and diaphragmatic paralysis: A novel BICD2 phenotype?
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 926, doi. 10.1002/ajmg.a.62578
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- Publication type:
- Article
Mesenteric cysts, lymphatic leak, and cerebral cavernous malformation in a proband with KRIT1‐related disease.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 332, doi. 10.1002/ajmg.a.62510
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- Publication type:
- Article
An approach to rapid characterization of DMD copy number variants for prenatal risk assessment.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2541, doi. 10.1002/ajmg.a.62349
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- Publication type:
- Article
FOXP1 haploinsufficiency: Phenotypes beyond behavior and intellectual disability?
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3172, doi. 10.1002/ajmg.a.38462
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- Publication type:
- Article
Phenotypic Evolution of UNC80 Loss of Function.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3106, doi. 10.1002/ajmg.a.37929
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- Publication type:
- Article
Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2440, doi. 10.1002/ajmg.a.37822
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- Publication type:
- Article
MED23-associated intellectual disability in a non-consanguineous family.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1374, doi. 10.1002/ajmg.a.37047
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- Publication type:
- Article
4q12-4q21.21 deletion genotype-phenotype correlation and the absence of piebaldism in presence of KIT haploinsufficiency.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 231, doi. 10.1002/ajmg.a.36821
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- Publication type:
- Article
ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2892, doi. 10.1002/ajmg.a.36709
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- Publication type:
- Article
Coffin-Siris syndrome: Phenotypic evolution of a novel SMARCA4 mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1808, doi. 10.1002/ajmg.a.36533
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- Publication type:
- Article
A cryptic familial rearrangement of 11p15.5, involving both imprinting centers, in a family with a history of short stature.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1587, doi. 10.1002/ajmg.a.36490
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- Publication type:
- Article
Bone marrow transplantation in Schimke immuno-osseous dysplasia.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2609, doi. 10.1002/ajmg.a.36111
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- Publication type:
- Article
SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2204, doi. 10.1002/ajmg.a.35532
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- Publication type:
- Article
Beckwith-Wiedemann syndrome in sibs discordant for IC2 methylation.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1662, doi. 10.1002/ajmg.a.35377
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- Publication type:
- Article
Minimal genotype-phenotype correlation for small deletions within distal 1p36.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3164, doi. 10.1002/ajmg.a.34333
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- Publication type:
- Article
NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet ?-granules.
- Published in:
- Nature Genetics, 2011, v. 43, n. 8, p. 732, doi. 10.1038/ng.883
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- Publication type:
- Article
Mutation of TDP1, encoding a topoisomerase I–dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy.
- Published in:
- Nature Genetics, 2002, v. 32, n. 2, p. 267, doi. 10.1038/ng987
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- Publication type:
- Article
Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome.
- Published in:
- Nature Genetics, 2002, v. 31, n. 1, p. 74, doi. 10.1038/ng867
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- Publication type:
- Article
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.
- Published in:
- Nature Genetics, 2002, v. 30, n. 2, p. 215, doi. 10.1038/ng821
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- Publication type:
- Article
Establishing analytical validity of BeadChip array genotype data by comparison to whole-genome sequence and standard benchmark datasets.
- Published in:
- BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01199-8
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- Publication type:
- Article
Replicate exome-sequencing in a multiplegeneration family: improved interpretation of next-generation sequencing data.
- Published in:
- BMC Genomics, 2015, v. 16, p. 1, doi. 10.1186/s12864-015-2107-y
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- Publication type:
- Article
Improved outcome with immunosuppressive monotherapy after renal transplantation in Schimke-immuno-osseous dysplasia.
- Published in:
- Pediatric Transplantation, 2009, v. 13, n. 4, p. 482, doi. 10.1111/j.1399-3046.2008.01013.x
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- Publication type:
- Article
Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1232, doi. 10.1038/ejhg.2013.20
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- Publication type:
- Article
Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 4, p. 476, doi. 10.1038/ejhg.2011.222
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- Publication type:
- Article
Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation?
- Published in:
- EMBO Journal, 2007, v. 26, n. 22, p. 4732, doi. 10.1038/sj.emboj.7601885
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- Publication type:
- Article
Pan‐cancer RNA‐seq data stratifies tumours by some hallmarks of cancer.
- Published in:
- Journal of Cellular & Molecular Medicine, 2020, v. 24, n. 1, p. 418, doi. 10.1111/jcmm.14746
- By:
- Publication type:
- Article
Importance of neurologic and cutaneous signs in the diagnosis of Schimke immuno-osseous dysplasia.
- Published in:
- Turkish Journal of Pediatrics, 2015, v. 57, n. 5, p. 509
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- Publication type:
- Article
A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine- Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies.
- Published in:
- Clinical Chemistry, 2016, v. 62, n. 1, p. 208, doi. 10.1373/clinchem.2015.243279
- By:
- Publication type:
- Article
Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy.
- Published in:
- Nature Communications, 2014, v. 5, n. 2, p. 3251, doi. 10.1038/ncomms4251
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- Publication type:
- Article
CMT4A: Identification of a Hispanic GDAP1 founder mutation.
- Published in:
- Annals of Neurology, 2003, v. 53, n. 3, p. 400
- By:
- Publication type:
- Article
Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: Phenotypes linked by SOX10 mutation.
- Published in:
- Annals of Neurology, 2002, v. 52, n. 6, p. 836, doi. 10.1002/ana.10404
- By:
- Publication type:
- Article
Periaxin mutations cause a broad spectrum of demyelinating neuropathies.
- Published in:
- Annals of Neurology, 2002, v. 51, n. 6, p. 709, doi. 10.1002/ana.10213
- By:
- Publication type:
- Article
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
- Published in:
- 2002
- By:
- Publication type:
- journal article
Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability.
- Published in:
- BMC Genomics, 2017, v. 18, p. 1, doi. 10.1186/s12864-017-3671-0
- By:
- Publication type:
- Article
The Role of Nuclear Bodies in Gene Expression and Disease.
- Published in:
- Biology (2079-7737), 2013, v. 2, n. 3, p. 976, doi. 10.3390/biology2030976
- By:
- Publication type:
- Article
Publisher Correction: Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-017-02462-8
- By:
- Publication type:
- Article
Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.
- Published in:
- Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-01289-7
- By:
- Publication type:
- Article
Impact of variation in practice in the prenatal reporting of variants of uncertain significance by commercial laboratories: Need for greater adherence to published guidelines.
- Published in:
- Prenatal Diagnosis, 2022, v. 42, n. 12, p. 1514, doi. 10.1002/pd.6232
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- Publication type:
- Article