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Don't miss patients with atypical FMR1 mutations: dysmorphism and clinical features in a boy with a partially methylated FMR1 full mutation.
- Published in:
- European Journal of Pediatrics, 2014, v. 173, n. 9, p. 1257, doi. 10.1007/s00431-014-2375-6
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- Publication type:
- Article
Growth parameters in maternal uniparental disomy 7 and 14.
- Published in:
- 2007
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- Publication type:
- journal article
Mental retardation, developmental delay, and partial psychomotor deficits in maternal uniparental disomy 7.
- Published in:
- European Journal of Pediatrics, 2000, v. 159, n. 12, p. 930, doi. 10.1007/PL00008373
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- Publication type:
- Article
A spoonful of L‐fucose—an efficient therapy for GFUS‐CDG, a new glycosylation disorder.
- Published in:
- EMBO Molecular Medicine, 2021, v. 13, n. 9, p. 1, doi. 10.15252/emmm.202114332
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- Publication type:
- Article
De novo direct duplication 3 (p25→pter): a previously undescribed chromosomal aberration.
- Published in:
- Clinical Genetics, 1996, v. 50, n. 2, p. 96, doi. 10.1111/j.1399-0004.1996.tb02356.x
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- Publication type:
- Article
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2384, doi. 10.1002/ajmg.a.62254
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- Publication type:
- Article
HIST1H1E heterozygous protein‐truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2049, doi. 10.1002/ajmg.a.61321
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- Publication type:
- Article
Formation of a familial ring chromosome 18 investigated by SNP-array analysis.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1854, doi. 10.1002/ajmg.a.36496
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- Publication type:
- Article
Chromosomal rearrangements in patients with clinical features of Silver-Russell syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1595, doi. 10.1002/ajmg.a.36464
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- Publication type:
- Article
Severe growth retardation, delayed bone age, and facial dysmorphism in two patients with microduplications in 2p16 → p22.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3176, doi. 10.1002/ajmg.a.36176
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- Publication type:
- Article
Contamination of Amniotic Fluid With Maternal Balanced t(11;22) Translocation Cells.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1101, doi. 10.1002/ajmg.a.35774
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- Publication type:
- Article
Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2239, doi. 10.1002/ajmg.a.35450
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- Publication type:
- Article
Microdeletion 19p13.2 in an almost 5-year-old boy.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1190, doi. 10.1002/ajmg.a.35291
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- Publication type:
- Article
Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia.
- Published in:
- Nature Genetics, 2001, v. 28, n. 1, p. 37, doi. 10.1038/ng0501-37
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- Publication type:
- Article
Wolf-Hirschhorn syndrome due to a 3:1 segregation of a maternal balanced t(4;15)(p16.3;q11) translocation.
- Published in:
- Prenatal Diagnosis, 2000, v. 20, n. 10, p. 847, doi. 10.1002/1097-0223(200010)20:10<847::AID-PD930>3.0.CO;2-O
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- Publication type:
- Article
Interpretation of molecular results in segmental uniparental disomy.
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- Hepatology Research, 2012, v. 42, n. 11, p. 1150, doi. 10.1111/j.1872-034X.2012.01041.x
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- Publication type:
- Article
Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder - an alternative therapeutic approach.
- Published in:
- Scientific Reports, 2016, p. 34017, doi. 10.1038/srep34017
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- Publication type:
- Article
Elevated Heart Rate Triggers Action Potential Alternans and Sudden Death. Translational Study of a Homozygous KCNH2 Mutation.
- Published in:
- PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0103150
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- Publication type:
- Article
Identification and Functional Characterization of Three NoLS (Nucleolar Localisation Signals) Mutations of the CDC73 Gene.
- Published in:
- PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0082292
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- Publication type:
- Article
The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability.
- Published in:
- Human Genetics, 2013, v. 132, n. 10, p. 1177, doi. 10.1007/s00439-013-1322-3
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- Publication type:
- Article
Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1177, doi. 10.1038/ejhg.2013.18
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- Publication type:
- Article
Somatic mosaicism for a heterozygous deletion of the survival motor neuron (SMN1) gene.
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- European Journal of Human Genetics, 2005, v. 13, n. 3, p. 309, doi. 10.1038/sj.ejhg.5201268
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- Publication type:
- Article
Advanced parental age in maternal uniparental disomy (UPD): implications for the mechanism of formation.
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- European Journal of Human Genetics, 2004, v. 12, n. 5, p. 343, doi. 10.1038/sj.ejhg.5201158
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- Publication type:
- Article
Paternal meiotic origin of der(21;21)(q10;q10) mosaicism [46,XX/46,XX,der(21;21)(q10;q10),+21] in a girl with mild Down syndrome.
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- European Journal of Human Genetics, 2000, v. 8, n. 9, p. 709, doi. 10.1038/sj.ejhg.5200520
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- Publication type:
- Article
Recombinant balanced and unbalanced translocations as a consequence of a balanced complex chromosomal rearrangement involving eight breakpoints in four chromosomes.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 8, p. 873
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- Publication type:
- Article
Uniparentale Disomien und Mosaike.
- Published in:
- Medizinische Genetik, 2014, v. 26, n. 3, p. 315, doi. 10.1007/s11825-014-0004-4
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- Publication type:
- Article
Novel Mutation in Potassium Channel related Gene KCTD7 and Progressive Myoclonic Epilepsy.
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- Annals of Human Genetics, 2012, v. 76, n. 4, p. 326, doi. 10.1111/j.1469-1809.2012.00710.x
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- Publication type:
- Article
Medullary nephrocalcinosis in an adult patient with idiopathic infantile hypercalcaemia and a novel CYP24A1 mutation.
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- 2013
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- Publication type:
- Correction Notice
Medullary nephrocalcinosis in an adult patient with idiopathic infantile hypercalcaemia and a novel CYP24A1 mutation.
- Published in:
- Clinical Kidney Journal, 2013, v. 6, n. 2, p. 211, doi. 10.1093/ckj/sft008
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- Publication type:
- Article
Dizygotic twin boys born after ICSI with maternal meiosis I-derived free trisomy 21 in the first and multiple congenital anomalies in the second: chance or common aetiology?
- Published in:
- 2002
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- Publication type:
- journal article
Novel deletion in 11p15.5 imprinting center region 1 in a patient with Beckwith-Wiedemann syndrome provides insight into distal enhancer regulation and tumorigenesis.
- Published in:
- 2017
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- Publication type:
- journal article
Recessive Dystrophic Epidermolysis bullosa due to Hemizygous 40 kb Deletion of COL7A1 and the Proximate PFKFB4 Gene Focusing on the Mutation c.425A>G Mimicking Homozygous Status.
- Published in:
- Diagnostics (2075-4418), 2022, v. 12, n. 10, p. 2460, doi. 10.3390/diagnostics12102460
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- Publication type:
- Article
Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.
- Published in:
- Human Mutation, 2010, v. 31, n. 8, p. E1587, doi. 10.1002/humu.21298
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- Publication type:
- Article
SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders.
- Published in:
- Human Mutation, 2005, v. 26, n. 3, p. 176, doi. 10.1002/humu.20215
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- Publication type:
- Article
Uniparental disomy 7 in Silver—Russell syndrome and primordial growth retardation.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 4, p. 583
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- Publication type:
- Article