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Novel STIL Compound Heterozygous Mutations Cause Severe Fetal Microcephaly and Centriolar Lengthening.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 6, p. 282, doi. 10.1159/000479666
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- Publication type:
- Article
A novel fragile X syndrome mutation reveals a conserved role for the carboxy-terminus in FMRP localization and function.
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- EMBO Molecular Medicine, 2015, v. 7, n. 4, p. 423, doi. 10.15252/emmm.201404576
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- Publication type:
- Article
Partial DiGeorge syndrome in two patients with a 10p rearrangement.
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- Clinical Genetics, 1999, v. 55, n. 4, p. 269, doi. 10.1034/j.1399-0004.1999.550410.x
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- Publication type:
- Article
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.
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- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0271-4
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- Publication type:
- Article
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 52, doi. 10.1186/s13023-015-0271-4
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- Publication type:
- Article
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.
- Published in:
- 2015
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- Publication type:
- journal article
X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 3, doi. 10.1186/1750-1172-9-49
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- Publication type:
- Article
X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes.
- Published in:
- 2014
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- Publication type:
- journal article
Human Brain Models of Intellectual Disability: Experimental Advances and Novelties.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 12, p. 6476, doi. 10.3390/ijms23126476
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- Publication type:
- Article
Inactivating TDP2 missense mutation in siblings with congenital abnormalities reminiscent of fanconi anemia.
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- Human Genetics, 2023, v. 142, n. 9, p. 1417, doi. 10.1007/s00439-023-02589-3
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- Publication type:
- Article
De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues.
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- Human Genetics, 2023, v. 142, n. 7, p. 949, doi. 10.1007/s00439-023-02569-7
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- Publication type:
- Article
Interstitial microdeletion of 17q11.2 is associated with hypotonia, fatigue, intellectual disability, and a subtle facial phenotype in three unrelated patients.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 209, doi. 10.1002/ajmg.a.38499
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- Publication type:
- Article
Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 1947, doi. 10.1002/ajmg.a.36580
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- Publication type:
- Article
Isolated terminal limb reduction defects: Extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1576, doi. 10.1002/ajmg.a.36486
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- Publication type:
- Article
Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2152, doi. 10.1002/ajmg.a.35574
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- Publication type:
- Article
Recurrent mutations in the CDKL5 gene: Genotype-phenotype relationships.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1612, doi. 10.1002/ajmg.a.35401
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- Publication type:
- Article
Positron Emission Tomography (PET) Quantification of GABA<sub>A</sub> Receptors in the Brain of Fragile X Patients.
- Published in:
- PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0131486
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- Publication type:
- Article
Network Analysis of Differential Expression for the Identification of Disease-Causing Genes.
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- PLoS ONE, 2009, v. 4, n. 5, p. 1, doi. 10.1371/journal.pone.0005526
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- Publication type:
- Article
A Homozygous Mutation in the Lamin A/C Gene Associated with a Novel Syndrome of Arthropathy, Tendinous Calcinosis, and Progeroid Features.
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- Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 2, p. 517, doi. 10.1210/jc.2005-1297
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- Publication type:
- Article
The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability.
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- Human Genetics, 2013, v. 132, n. 10, p. 1177, doi. 10.1007/s00439-013-1322-3
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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.
- Published in:
- Human Genetics, 2007, v. 121, n. 5, p. 539, doi. 10.1007/s00439-007-0343-1
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- Publication type:
- Article
Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1286, doi. 10.1038/ejhg.2014.282
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- Publication type:
- Article
Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia.
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- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 551, doi. 10.1038/ejhg.2014.135
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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.
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- 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
Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms.
- Published in:
- 2012
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- Publication type:
- Letter
Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.
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- European Journal of Human Genetics, 2011, v. 19, n. 6, p. 717, doi. 10.1038/ejhg.2010.244
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- Publication type:
- Article
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.
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- 2009
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- Publication type:
- Correction Notice
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 4, p. 444, doi. 10.1038/ejhg.2008.208
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- Publication type:
- Article
Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4.
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- European Journal of Human Genetics, 2009, v. 17, n. 3, p. 378, doi. 10.1038/ejhg.2008.180
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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
Partial duplications of the ATRX gene cause the ATR-X syndrome.
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- European Journal of Human Genetics, 2007, v. 15, n. 10, p. 1094, doi. 10.1038/sj.ejhg.5201878
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- Publication type:
- Article
Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia.
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- European Journal of Human Genetics, 2005, v. 13, n. 1, p. 121, doi. 10.1038/sj.ejhg.5201312
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- Publication type:
- Article
Use of Multimodal Imaging and Clinical Biomarkers in Presymptomatic Carriers of C9orf72 Repeat Expansion.
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- JAMA Neurology, 2020, v. 77, n. 8, p. 1008, doi. 10.1001/jamaneurol.2020.1087
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- Publication type:
- Article
The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review.
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- Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00058
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- Publication type:
- Article
Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability.
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- BMC Medical Genomics, 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s12920-018-0446-7
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- Publication type:
- Article
Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.
- Published in:
- Brain: A Journal of Neurology, 2008, v. 131, n. 7, p. 1831, doi. 10.1093/brain/awn113
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- Publication type:
- Article
Conradi- Hünermann- Happle Syndrome: A Novel Heterozygous Missense Mutation, c.204 G> T (p. W68 C).
- Published in:
- Pediatric Dermatology, 2014, v. 31, n. 4, p. 493, doi. 10.1111/pde.12336
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- Publication type:
- Article
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?
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- Clinical Genetics, 2021, v. 99, n. 3, p. 462, doi. 10.1111/cge.13908
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- Publication type:
- Article
Expanding the clinical spectrum of Fowler syndrome: Three siblings with survival into adulthood and systematic review of the literature.
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- Clinical Genetics, 2020, v. 98, n. 5, p. 423, doi. 10.1111/cge.13761
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- Publication type:
- Article
Navigating the uncertainties of next‐generation sequencing in the genetics clinic.
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- Sociology of Health & Illness, 2023, v. 45, n. 3, p. 465, doi. 10.1111/1467-9566.13533
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- Publication type:
- Article
IRAK1 Duplication in MECP2 Duplication Syndrome Does Not Increase Canonical NF-κB–Induced Inflammation.
- Published in:
- Journal of Clinical Immunology, 2023, v. 43, n. 2, p. 421, doi. 10.1007/s10875-022-01390-7
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- Publication type:
- Article
Should we screen for FMR1 premutations in female subjects presenting with ataxia?
- Published in:
- Annals of Neurology, 2005, v. 57, n. 6, p. 932
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- Publication type:
- Article
GATA3 haplo-insufficiency causes human HDR syndrome.
- Published in:
- Nature, 2000, v. 406, n. 6794, p. 419, doi. 10.1038/35019088
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- Publication type:
- Article
MAPRE2 mutations result in altered human cranial neural crest migration, underlying craniofacial malformations in CSC-KT syndrome.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-83771-3
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- Publication type:
- Article
Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience.
- Published in:
- Frontiers in Genetics, 2018, p. 1, doi. 10.3389/fgene.2018.00150
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- Publication type:
- Article
FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 4, p. 589, doi. 10.1093/hmg/ddx426
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- Publication type:
- Article
A novel SYN1 missense mutation in non-syndromic X-linked intellectual disability affects synaptic vesicle life cycle, clustering and mobility.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 23, p. 4699, doi. 10.1093/hmg/ddx352
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- Publication type:
- Article
Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.
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- Human Molecular Genetics, 2015, v. 24, n. 25, p. 7171, doi. 10.1093/hmg/ddv414
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- Publication type:
- Article
A Y328C missense mutation in spermine synthase causes a mild form of Snyder–Robinson syndrome.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 18, p. 3789, doi. 10.1093/hmg/ddt229
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- Publication type:
- Article
Challenges in molecular diagnosis of X-linked Intellectual disability.
- Published in:
- British Medical Bulletin, 2020, v. 133, n. 1, p. 36, doi. 10.1093/bmb/ldz039
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- Publication type:
- Article