Found: 109
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Cerebral dural arteriovenous fistulas in patients with PTEN‐related hamartoma tumor syndrome.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 1, p. 90, doi. 10.1111/cge.14515
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- Publication type:
- Article
Expanding the phenotype of GTF2E2‐associated trichothiodystrophy.
- Published in:
- Journal of the European Academy of Dermatology & Venereology, 2024, v. 38, n. 3, p. e222, doi. 10.1111/jdv.19545
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- Publication type:
- Article
Together4RD position statement on collaboration between European reference networks and industry.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02853-9
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- Publication type:
- Article
De novo NUF2 variant in a novel inherited bone marrow failure syndrome including microcephaly and renal hypoplasia.
- Published in:
- British Journal of Haematology, 2022, v. 199, n. 5, p. 739, doi. 10.1111/bjh.18461
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- Publication type:
- Article
Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature.
- Published in:
- Birth Defects Research, 2022, v. 114, n. 10, p. 499, doi. 10.1002/bdr2.2011
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- Publication type:
- Article
Developmental and epileptic encephalopathy related to a heterozygous variant of the RHOBTB2 gene: A case report from French Guiana.
- Published in:
- 2022
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- Publication type:
- Case Study
Neurological outcome in WDR62 primary microcephaly.
- Published in:
- Developmental Medicine & Child Neurology, 2022, v. 64, n. 4, p. 509, doi. 10.1111/dmcn.15060
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- Publication type:
- Article
Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder.
- Published in:
- Clinical Genetics, 2022, v. 101, n. 3, p. 364, doi. 10.1111/cge.14099
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- Publication type:
- Article
NTRK1 gene-related congenital insensitivity to pain with anhidrosis: a nationwide multicenter retrospective study.
- Published in:
- Neurogenetics, 2021, v. 22, n. 4, p. 333, doi. 10.1007/s10048-021-00668-z
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- Publication type:
- Article
Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder.
- Published in:
- Human Mutation, 2021, v. 42, n. 7, p. 848, doi. 10.1002/humu.24208
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- Publication type:
- Article
Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 1, p. 10, doi. 10.1111/cge.13746
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- Publication type:
- Article
Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 4, p. 567, doi. 10.1111/cge.13709
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- Publication type:
- Article
LEF1 haploinsufficiency causes ectodermal dysplasia.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 4, p. 595, doi. 10.1111/cge.13714
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- Publication type:
- Article
Digenic inheritance of human primary microcephaly delineates centrosomal and non‐centrosomal pathways.
- Published in:
- Human Mutation, 2020, v. 41, n. 2, p. 512, doi. 10.1002/humu.23948
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- Publication type:
- Article
Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion.
- Published in:
- Neurogenetics, 2020, v. 21, n. 1, p. 29, doi. 10.1007/s10048-019-00596-z
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- Publication type:
- Article
Developmental Phenotype of the Rare Case of DJ Caused by a Unique ADNP Gene De Novo Mutation.
- Published in:
- 2019
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- Publication type:
- Editorial
Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
- Published in:
- 2019
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- Publication type:
- Correction Notice
Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder.
- Published in:
- 2019
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- Publication type:
- letter
Golgipathies in Neurodevelopment: A New View of Old Defects.
- Published in:
- Developmental Neuroscience, 2018, v. 40, n. 5/6, p. 396, doi. 10.1159/000497035
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- Publication type:
- Article
Noonan syndrome males display Sertoli cell-specific primary testicular insufficiency.
- Published in:
- European Journal of Endocrinology, 2018, v. 179, n. 6, p. 409, doi. 10.1530/EJE-18-0582
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- Publication type:
- Article
Reply: ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation.
- Published in:
- 2018
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- Publication type:
- letter
A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy.
- Published in:
- 2018
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- Publication type:
- journal article
A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
- Published in:
- NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0035-2
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- Publication type:
- Article
Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS.
- Published in:
- Pigment Cell & Melanoma Research, 2017, v. 30, n. 6, p. 563, doi. 10.1111/pcmr.12608
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- Publication type:
- Article
A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
- Published in:
- NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0035-2
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- Publication type:
- Article
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2763, doi. 10.1002/ajmg.a.38375
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- Publication type:
- Article
WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.
- Published in:
- 2017
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- Publication type:
- journal article
Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2081, doi. 10.1002/ajmg.a.38302
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- Publication type:
- Article
Phosphoglycerate dehydrogenase (PHGDH) deficiency without epilepsy mimicking primary microcephaly.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1936, doi. 10.1002/ajmg.a.38217
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- Publication type:
- Article
DNA ligase IV deficiency: Immunoglobulin class deficiency depends on the genotype.
- Published in:
- Pediatric Allergy & Immunology, 2017, v. 28, n. 3, p. 298, doi. 10.1111/pai.12694
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- Publication type:
- Article
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2847, doi. 10.1002/ajmg.a.37878
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- Publication type:
- Article
ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.
- Published in:
- 2016
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- Publication type:
- journal article
Failure of ossification of the occipital bone in mandibuloacral dysplasia type B.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2750, doi. 10.1002/ajmg.a.37825
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- Publication type:
- Article
Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities.
- Published in:
- 2016
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- Publication type:
- letter
Prenatal findings in cardio-facio-cutaneous syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 441, doi. 10.1002/ajmg.a.37420
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- Publication type:
- Article
11q24.2-25 Micro-Rearrangements in Autism Spectrum Disorders: Relation to Brain Structures.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3019, doi. 10.1002/ajmg.a.37345
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- Publication type:
- Article
Clinical utility gene card for: CHARGE syndrome - update 2015.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1, doi. 10.1038/ejhg.2015.15
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- Publication type:
- Article
Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder.
- Published in:
- Molecular Autism, 2015, v. 6, n. 1, p. 1, doi. 10.1186/s13229-015-0015-2
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- Publication type:
- Article
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 292, doi. 10.1038/ejhg.2014.95
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- Publication type:
- Article
Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.
- Published in:
- Nature Genetics, 2015, v. 47, n. 3, p. 304, doi. 10.1038/ng0315-304b
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- Publication type:
- Article
Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0244-7
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- Publication type:
- Article
Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.
- Published in:
- Nature Genetics, 2015, v. 47, n. 1, p. 73, doi. 10.1038/ng.3153
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- Publication type:
- Article
Inversion duplication deletions involving the long arm of chromosome 13: Phenotypic description of additional three fetuses and genotype-phenotype correlation.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2504, doi. 10.1002/ajmg.a.36658
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- Publication type:
- Article
De novo deletion of TBL1XR1 in a child with non-specific developmental delay supports its implication in intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2335, doi. 10.1002/ajmg.a.36619
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- Publication type:
- Article
Phenotypic similarities and differences in patients with a p.Met112Ile mutation in SOX10.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2344, doi. 10.1002/ajmg.a.36612
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- Publication type:
- Article
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: Expanding the phenotypic spectrum of MED12 mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1821, doi. 10.1002/ajmg.a.36539
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- Publication type:
- Article
Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 1, p. 52, doi. 10.1038/ejhg.2013.98
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- Publication type:
- Article
Presence of autism, hyperserotonemia, and severe expressive language impairment in Williams-Beuren syndrome.
- Published in:
- Molecular Autism, 2013, v. 4, n. 1, p. 1, doi. 10.1186/2040-2392-4-29
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- Publication type:
- Article
Clinical utility gene card for: Rothmund-Thomson syndrome.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 7, p. 1, doi. 10.1038/ejhg.2012.260
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- Publication type:
- Article
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 671, doi. 10.1002/ajmg.a.35747
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- Publication type:
- Article