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Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-173
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- Publication type:
- Article
De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Reply: The expanding neurological phenotype of DNM1L-related disorders.
- Published in:
- 2018
- By:
- Publication type:
- Letter
Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Epileptic phenotypes in children with respiratory chain disorders.
- Published in:
- Epilepsia (Series 4), 2010, v. 51, n. 7, p. 1225, doi. 10.1111/j.1528-1167.2009.02504.x
- By:
- Publication type:
- Article
The three stages of epilepsy in patients with CDKL5 mutations.
- Published in:
- Epilepsia (Series 4), 2008, v. 49, n. 6, p. 1027, doi. 10.1111/j.1528-1167.2007.01520.x
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- Publication type:
- Article
Spectrum of epilepsy in terminal 1p36 deletion syndrome.
- Published in:
- Epilepsia (Series 4), 2008, v. 49, n. 3, p. 509, doi. 10.1111/j.1528-1167.2007.01424.x
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- Publication type:
- Article
Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.
- Published in:
- 2018
- By:
- Publication type:
- Correction Notice
An automatic facial landmarking for children with rare diseases.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1210, doi. 10.1002/ajmg.a.63126
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- Publication type:
- Article
Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 77, doi. 10.1002/ajmg.a.62989
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- Publication type:
- Article
Expanding the phenotype in Adams–Oliver syndrome correlating with the genotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 29, doi. 10.1002/ajmg.a.61364
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- Publication type:
- Article
Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 706, doi. 10.1002/ajmg.a.38061
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- Publication type:
- Article
Les mutations du gène NONO sont responsables d’un nouveau syndrome de déficience intellectuelle lié au dysfonctionnement des synapses inhibitrices.
- Published in:
- Médecine Sciences, 2016, v. 32, n. 6, p. 571, doi. 10.1051/medsci/20163206015
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- Publication type:
- Article
Dérégulation de l’expression des gènes à réponse précoce et déficience intellectuelle.
- Published in:
- Médecine Sciences, 2012, v. 28, n. 2, p. 128, doi. 10.1051/medsci/2012282003
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- Publication type:
- Article
A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.
- Published in:
- PLoS Genetics, 2018, v. 14, n. 5, p. 1, doi. 10.1371/journal.pgen.1007386
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- Publication type:
- Article
Partial maternal heterodisomy of chromosome 17q25 in a case of severe mental retardation.
- Published in:
- Human Genetics, 2001, v. 108, n. 6, p. 511, doi. 10.1007/s004390100522
- By:
- Publication type:
- Article
Pharmacoresistant Epilepsy in Childhood: Think of the Cerebral Folate Deficiency, a Treatable Disease.
- Published in:
- Brain Sciences (2076-3425), 2020, v. 10, n. 11, p. 762, doi. 10.3390/brainsci10110762
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- Publication type:
- Article
Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 4, p. 542, doi. 10.1038/ejhg.2013.171
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- Publication type:
- Article
Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 7, p. 736, doi. 10.1038/ejhg.2012.251
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- Publication type:
- Article
NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 2, p. 195, doi. 10.1038/ejhg.2012.140
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- Publication type:
- Article
Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 5, p. 513, doi. 10.1038/ejhg.2010.234
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- Publication type:
- Article
Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 3, p. 285, doi. 10.1038/ejhg.2009.159
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- Publication type:
- Article
Misleading behavioural phenotype with adenylosuccinate lyase deficiency.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 133, doi. 10.1038/ejhg.2008.174
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- Publication type:
- Article
A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 5, p. 319, doi. 10.1038/sj.ejhg.5200591
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- Publication type:
- Article
Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 10, p. e301, doi. 10.1093/brain/awu184
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- Publication type:
- Article
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome.
- Published in:
- Epilepsia (Series 4), 2020, v. 61, n. 11, p. 2461, doi. 10.1111/epi.16679
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- Publication type:
- Article
Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller’s dementia infantilis, a rare subtype of autism spectrum disorder.
- Published in:
- BMC Psychiatry, 2015, v. 15, p. 1, doi. 10.1186/s12888-015-0631-6
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- Publication type:
- Article
Environmental Antimicrobial Resistance in a Small Urban Mediterranean River: A Focus on Endemic Beta-Lactamases in Clinically Relevant Bacteria.
- Published in:
- Water (20734441), 2021, v. 13, n. 15, p. 2010, doi. 10.3390/w13152010
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- Publication type:
- Article
Possible incomplete penetrance of Xq28 int22h‐1/int22h‐2 duplication.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 3, p. 234, doi. 10.1111/cge.14525
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- Publication type:
- Article
Investigating genotype‐to‐phenotype correlation in CHARGE syndrome by deep phenotyping and multiparametric clustering.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 4, p. 466, doi. 10.1111/cge.14363
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- Publication type:
- Article
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.
- Published in:
- Clinical Genetics, 2022, v. 101, n. 5/6, p. 494, doi. 10.1111/cge.14123
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- Publication type:
- Article
A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia.
- Published in:
- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01582-z
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- Publication type:
- Article
AICA‐ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long‐term update on the first case.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1254, doi. 10.1002/jimd.12274
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- Publication type:
- Article
Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism and multisystemic involvement.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 9, p. 1445, doi. 10.1093/hmg/ddy441
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- Publication type:
- Article
Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 15, p. 2689, doi. 10.1093/hmg/ddy179
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- Publication type:
- Article
Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 16, p. 3306, doi. 10.1093/hmg/ddt187
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- Publication type:
- Article
ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat–Wilson syndrome.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 13, p. 2652, doi. 10.1093/hmg/ddt114
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- Publication type:
- Article
Expanding the skeletal phenotype of Loeys-Dietz syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1178, doi. 10.1002/ajmg.a.33813
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- Publication type:
- Article
Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations.
- Published in:
- Human Mutation, 2020, v. 41, n. 2, p. 397, doi. 10.1002/humu.23937
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- Publication type:
- Article
Inhibition of mitochondrial translation in fibroblasts from a patient expressing the KARS p.(Pro228Leu) variant and presenting with sensorineural deafness, developmental delay, and lactic acidosis.
- Published in:
- Human Mutation, 2018, v. 39, n. 12, p. 2047, doi. 10.1002/humu.23657
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- Publication type:
- Article
Genotype–phenotype correlations in individuals with pathogenic <italic>RERE</italic> variants.
- Published in:
- Human Mutation, 2018, v. 39, n. 5, p. 666, doi. 10.1002/humu.23400
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- Publication type:
- Article
CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy.
- Published in:
- Human Mutation, 2017, v. 38, n. 8, p. 932, doi. 10.1002/humu.23270
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- Publication type:
- Article
Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy.
- Published in:
- Human Mutation, 2011, v. 32, n. 11, p. 1225, doi. 10.1002/humu.21562
- By:
- Publication type:
- Article
Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.
- Published in:
- Human Mutation, 2009, v. 30, n. 4, p. 669, doi. 10.1002/humu.20935
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- Publication type:
- Article
Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.
- Published in:
- Human Mutation, 2008, v. 29, n. 11, p. E284, doi. 10.1002/humu.20871
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- Publication type:
- Article
Identifying interindividual variability of social perception and associated brain anatomical correlations in children with autism spectrum disorder using eye-tracking and diffusion tensor imaging MRI (DTI-MRI).
- Published in:
- Cerebral Cortex, 2024, v. 34, n. 1, p. 1, doi. 10.1093/cercor/bhad434
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- Publication type:
- Article
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness.
- Published in:
- International Journal of Developmental Neuroscience, 2015, v. 47, p. 119, doi. 10.1016/j.ijdevneu.2015.04.319
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- Publication type:
- Article
Next generation phenotyping for diagnosis and phenotype–genotype correlations in Kabuki syndrome.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-52691-3
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- Publication type:
- Article
MALDI-TOF MS applied to apoC-III glycoforms of patients with congenital disorders affecting O-glycosylation. Comparison with two-dimensional electrophoresis.
- Published in:
- Proteomics - Clinical Applications, 2015, v. 9, n. 7/8, p. 787, doi. 10.1002/prca.201400187
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- Publication type:
- Article