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Treacher Collins syndrome: clinical implications for the paediatrician-a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature.
- Published in:
- European Journal of Pediatrics, 2012, v. 171, n. 11, p. 1611, doi. 10.1007/s00431-012-1776-7
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- Publication type:
- Article
Integrative analysis revealed the molecular mechanism underlying RBM10-mediated splicing regulation.
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- EMBO Molecular Medicine, 2013, v. 5, n. 9, p. 1431, doi. 10.1002/emmm.201302663
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- Publication type:
- Article
Cardio-facio-cutaneous (CFC) syndrome - a distinct entity? Report of three patients demonstrating the diagnostic difficulties in delineation of CFC syndrome.
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- Clinical Genetics, 1997, v. 52, n. 1, p. 37, doi. 10.1111/j.1399-0004.1997.tb02512.x
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- Publication type:
- Article
Microcephaly, seizures, genital hypoplasia, and abnormalities of the hands and feet in a 4-year-old boy with possible Wiedemann syndrome.
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- Clinical Genetics, 1996, v. 49, n. 2, p. 98, doi. 10.1111/j.1399-0004.1996.tb04337.x
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- Article
X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity.
- Published in:
- 2013
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- Publication type:
- journal article
Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration.
- Published in:
- Brain: A Journal of Neurology, 2020, v. 143, n. 1, p. 94, doi. 10.1093/brain/awz376
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- Article
De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures.
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- 2019
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- Publication type:
- journal article
Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration.
- Published in:
- 2019
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- Publication type:
- journal article
Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 22, p. 13664, doi. 10.3390/ijms232213664
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- Article
Biallelic variants in YRDC cause a developmental disorder with progeroid features.
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- Human Genetics, 2021, v. 140, n. 12, p. 1679, doi. 10.1007/s00439-021-02347-3
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- Publication type:
- Article
The Macrophage Migration Inhibitory Factor (MIF) Promoter Polymorphisms (rs3063368, rs755622) Predict Acute Kidney Injury and Death after Cardiac Surgery.
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- Journal of Clinical Medicine, 2020, v. 9, n. 9, p. 2936, doi. 10.3390/jcm9092936
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- Publication type:
- Article
Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome.
- Published in:
- BioMed Research International, 2016, v. 2016, p. 1, doi. 10.1155/2016/8742939
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- Article
Correction to: Genetic predisposition in children with cancer - affected families' acceptance of Trio-WES.
- Published in:
- 2018
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- Publication type:
- journal article
Genetic predisposition in children with cancer - affected families' acceptance of Trio-WES.
- Published in:
- 2018
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- Publication type:
- journal article
Further evidence for complex inheritance of holoprosencephaly: Lessons learned from pre‐ and postnatal diagnostic testing in Germany.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 2, p. 198, doi. 10.1002/ajmg.c.31625
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- Publication type:
- Article
Females with de novo aberrations in PHF6: Clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2014, v. 166C, n. 3, p. 290, doi. 10.1002/ajmg.c.31408
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- Publication type:
- Article
Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1216, doi. 10.1002/ajmg.a.62070
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- Publication type:
- Article
Nine newly identified individuals refine the phenotype associated with MYT1L mutations.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1021, doi. 10.1002/ajmg.a.61515
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- Publication type:
- Article
De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 435, doi. 10.1002/ajmg.a.38034
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- Publication type:
- Article
A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 728, doi. 10.1002/ajmg.a.37484
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- Publication type:
- Article
Tentative Clinical Diagnosis of Lujan-Fryns Syndrome--A Conglomeration of Different Genetic Entities?
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 94, doi. 10.1002/ajmg.a.37378
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- Publication type:
- Article
Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 295, doi. 10.1002/ajmg.a.35735
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- Publication type:
- Article
Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3148, doi. 10.1002/ajmg.a.35665
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- Publication type:
- Article
SARS‐CoV‐2 targets neurons of 3D human brain organoids.
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- EMBO Journal, 2020, v. 39, n. 20, p. 1, doi. 10.15252/embj.2020106230
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- Publication type:
- Article
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.
- Published in:
- Nature Genetics, 2011, v. 43, n. 8, p. 729, doi. 10.1038/ng.868
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- Publication type:
- Article
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.
- Published in:
- Nature Genetics, 2011, v. 43, n. 1, p. 20, doi. 10.1038/ng.724
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- Publication type:
- Article
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
- Published in:
- Nature Genetics, 2006, v. 38, n. 3, p. 294, doi. 10.1038/ng1749
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- Publication type:
- Article
Effects of RANK-Ligand Antibody (Denosumab) Treatment on Bone Turnover Markers in a Girl With Juvenile Paget’s Disease.
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- Journal of Clinical Endocrinology & Metabolism, 2013, v. 98, n. 8, p. 3121, doi. 10.1210/jc.2013-1143
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- Publication type:
- Article
Prenatally detected trisomy 4 and 6 mosaicism-cytogenetic results and clinical phenotype.
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- Prenatal Diagnosis, 2003, v. 23, n. 2, p. 128, doi. 10.1002/pd.557
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- Publication type:
- Article
Moyamoya angiopathy in PHACE syndrome not associated with RNF213 variants.
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- Child's Nervous System, 2019, v. 35, n. 7, p. 1231, doi. 10.1007/s00381-019-04145-9
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- Publication type:
- Article
Autism spectrum disorder and Li-Fraumeni syndrome: purely coincidental or mechanistically associated?
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- Molecular & Cellular Pediatrics, 2017, v. 4, n. 1, p. 1, doi. 10.1186/s40348-017-0075-9
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- Publication type:
- Article
Classification and Visualization Based on Derived Image Features: Application to Genetic Syndromes.
- Published in:
- PLoS ONE, 2014, v. 9, n. 11, p. 1, doi. 10.1371/journal.pone.0109033
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- Article
Altered Development of NKT Cells, γδ T Cells, CD8 T Cells and NK Cells in a PLZF Deficient Patient.
- Published in:
- PLoS ONE, 2011, v. 6, n. 9, p. 1, doi. 10.1371/journal.pone.0024441
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- Publication type:
- Article
Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations.
- Published in:
- 2016
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- Publication type:
- Case Study
Diagnostic approach to microcephaly in childhood: a two-center study and review of the literature.
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- Developmental Medicine & Child Neurology, 2014, v. 56, n. 8, p. 732, doi. 10.1111/dmcn.12425
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- Publication type:
- Article
De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies.
- Published in:
- 2018
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- Publication type:
- Case Study
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.
- Published in:
- Human Genetics, 2017, v. 136, n. 3, p. 307, doi. 10.1007/s00439-017-1758-y
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- Publication type:
- Article
Homozygous truncating PTPRF mutation causes athelia.
- Published in:
- Human Genetics, 2014, v. 133, n. 8, p. 1041, doi. 10.1007/s00439-014-1445-1
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- Publication type:
- Article
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots.
- Published in:
- Human Genetics, 2011, v. 129, n. 2, p. 141, doi. 10.1007/s00439-010-0907-3
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- Publication type:
- Article
Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome.
- Published in:
- Human Genetics, 2007, v. 121, n. 3/4, p. 369, doi. 10.1007/s00439-007-0336-0
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- Publication type:
- Article
Mutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defects.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-10849-y
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- Publication type:
- Article
Clinical and Cytogenetic Characterization of Early and Late Relapses in Patients Allografted for Myeloid Neoplasms with a Myelodysplastic Component.
- Published in:
- Cancers, 2022, v. 14, n. 24, p. 6244, doi. 10.3390/cancers14246244
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- Publication type:
- Article
Further delineation of the KAT6B molecular and phenotypic spectrum.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1165, doi. 10.1038/ejhg.2014.248
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- Publication type:
- Article
Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome.
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- European Journal of Human Genetics, 2014, v. 22, n. 6, p. 762, doi. 10.1038/ejhg.2013.241
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- Publication type:
- Article
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.
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- European Journal of Human Genetics, 2014, v. 22, n. 7, p. 881, doi. 10.1038/ejhg.2013.263
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- Publication type:
- Article
Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 289, doi. 10.1038/ejhg.2013.113
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- Publication type:
- Article
Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1349, doi. 10.1038/ejhg.2013.86
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- Publication type:
- Article
Genetic determination of human facial morphology: links between cleft-lips and normal variation.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1192, doi. 10.1038/ejhg.2011.110
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- Publication type:
- Article
De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation.
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- European Journal of Human Genetics, 2011, v. 19, n. 5, p. 507, doi. 10.1038/ejhg.2010.226
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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