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Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes.
- Published in:
- Molecular Medicine, 2019, v. 25, n. 1, p. N.PAG, doi. 10.1186/s10020-019-0073-6
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- Publication type:
- Article
Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome.
- Published in:
- European Journal of Pediatrics, 2014, v. 173, n. 9, p. 1253, doi. 10.1007/s00431-014-2368-5
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- Publication type:
- Article
Velofacial hypoplasia (Sedlackova syndrome): a variant of velocardiofacial (Shprintzen) syndrome and part of the phenotypical spectrum of del 22q11.2.
- Published in:
- 2001
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- Publication type:
- journal article
Mitochondrial DNA Mutation Associated with Aging and Degenerative Disease<sup>a</sup>.
- Published in:
- Annals of the New York Academy of Sciences, 1992, v. 673, n. 1, p. 92, doi. 10.1111/j.1749-6632.1992.tb27440.x
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- Publication type:
- Article
First Report of a Low-Frequency Mosaic Mutation in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria.
- Published in:
- Life (2075-1729), 2023, v. 13, n. 9, p. 1889, doi. 10.3390/life13091889
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- Publication type:
- Article
Confirmation of Ogden syndrome as an X‐linked recessive fatal disorder due to a recurrent NAA10 variant and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2546, doi. 10.1002/ajmg.a.62351
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- Publication type:
- Article
A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 392, doi. 10.1002/ajmg.a.37452
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- Publication type:
- Article
Long-term follow-up of four patients with langer-giedion syndrome: Clinical course and complications.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2216, doi. 10.1002/ajmg.a.36062
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- Publication type:
- Article
Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: First description of patients without cystinuria.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1853, doi. 10.1002/ajmg.a.35994
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- Publication type:
- Article
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.
- Published in:
- Nature Genetics, 2006, v. 38, n. 9, p. 999, doi. 10.1038/ng1853
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- Publication type:
- Article
Maternal uniparental isodisomy 10 and mosaicism for an additional marker chromosome derived from the paternal chromosome 10 in a fetus.
- Published in:
- Prenatal Diagnosis, 2002, v. 22, n. 5, p. 418, doi. 10.1002/pd.337
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- Publication type:
- Article
Prenatal diagnosis of mosaicism for a del(22)(q13).
- Published in:
- 2000
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- Publication type:
- journal article
No Evidence for Mutations of CTCFL/BORIS in Silver- Russell Syndrome Patients with IGF2/H19 Imprinting Control Region 1 Hypomethylation.
- Published in:
- PLoS ONE, 2009, v. 4, n. 8, p. 1, doi. 10.1371/journal.pone.0006631
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- Publication type:
- Article
Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes.
- Published in:
- Human Genetics, 2001, v. 109, n. 3, p. 286, doi. 10.1007/s004390100585
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- Publication type:
- Article
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.
- Published in:
- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00316-x
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- Publication type:
- Article
Evaluation of functional mobility in hemiparetic stroke patients.
- Published in:
- 2013
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- Publication type:
- Journal Article
Avaliação da mobilidade funcional em pacientes hemiparéticos por acidente vascular cerebral.
- Published in:
- Fisioterapia Brasil, 2013, v. 14, n. 2, p. 141
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- Publication type:
- Article
Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1100, doi. 10.1038/ejhg.2013.17
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- Publication type:
- Article
Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 5, p. 555, doi. 10.1038/ejhg.2010.252
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- Publication type:
- Article
Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 3, p. 395, doi. 10.1038/sj.ejhg.5201975
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- Publication type:
- Article
Mosaic imprinting defect in a patient with an almost typical expression of the Prader-Willi syndrome.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 3, p. 273, doi. 10.1038/sj.ejhg.5201337
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- Publication type:
- Article
Segmental maternal heterodisomy of the proximal part of chromosome 15 in an infant with Prader-Willi syndrome.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 5, p. 411, doi. 10.1038/sj.ejhg.5201168
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- Publication type:
- Article
Parental origin and mechanisms of formation of triploidy: a study of 25 cases.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 12, p. 911, doi. 10.1038/sj.ejhg.5200572
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- Publication type:
- Article
An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32–p11.23 in an Italian family.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 6, p. 443, doi. 10.1038/sj.ejhg.5200506
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- Publication type:
- Article
Isochromosomes 12p and 9p: parental origin and possible mechanisms of formation.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 2, p. 140, doi. 10.1038/sj.ejhg.5200168
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- Publication type:
- Article
Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6).
- Published in:
- European Heart Journal, 2011, v. 32, n. 9, p. 1077, doi. 10.1093/eurheartj/ehr076
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- Publication type:
- Article
APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex.
- Published in:
- Nature, 2010, v. 464, n. 7291, p. 1043, doi. 10.1038/nature08875
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- Publication type:
- Article
Quantitative 1-Step DNA Methylation Analysis with Native Genomic DNA as Template.
- Published in:
- Clinical Chemistry, 2010, v. 56, n. 7, p. 1098, doi. 10.1373/clinchem.2009.142828
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- Publication type:
- Article
N-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 131, doi. 10.1007/s10545-015-9876-y
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- Publication type:
- Article
Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities.
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 731, doi. 10.1007/s10545-011-9319-3
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- Publication type:
- Article
High-resolution chromosomal microarrays in prenatal diagnosis significantly increase diagnostic power.
- Published in:
- Prenatal Diagnosis, 2014, v. 34, n. 6, p. 525, doi. 10.1002/pd.4342
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- Publication type:
- Article
Monochorionic-diamniotic twins discordant in gender from a naturally conceived pregnancy through postzygotic sex chromosome loss in a 47,XXY zygote.
- Published in:
- Prenatal Diagnosis, 2008, v. 28, n. 8, p. 759, doi. 10.1002/pd.2031
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- Publication type:
- Article
Chromosomal heteromorphisms may help for the diagnosis of uniparental disomy (UPD): a case report.
- Published in:
- Prenatal Diagnosis, 2007, v. 27, n. 11, p. 1072, doi. 10.1002/pd.1814
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- Publication type:
- Article
Postzygotic isochromosome formation as a cause for false-negative results from chorionic villus chromosome examinations.
- Published in:
- 2006
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- Publication type:
- journal article
Variants in CUL4B are Associated with Cerebral Malformations.
- Published in:
- Human Mutation, 2015, v. 36, n. 1, p. 106, doi. 10.1002/humu.22718
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- Publication type:
- Article
An analytical method for the detection of methylation differences at specific chromosomal loci using primer extension and ion pair reverse phase HPLC.
- Published in:
- Human Mutation, 2002, v. 20, n. 4, p. 305, doi. 10.1002/humu.10118
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- Publication type:
- Article
A novel MSP/DHPLC method for the investigation of the methylation status of imprinted genes enables the molecular detection of low cell mosaicisms.
- Published in:
- Human Mutation, 2001, v. 17, n. 5, p. 423, doi. 10.1002/humu.1118
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- Publication type:
- Article
Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS.
- Published in:
- Human Mutation, 2000, v. 16, n. 1, p. 54, doi. 10.1002/1098-1004(200007)16:1<54::AID-HUMU10>3.0.CO;2-C
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- Publication type:
- Article
Method for in situ investigation of mitochondrial DNA deletions.
- Published in:
- Human Mutation, 1997, v. 10, n. 6, p. 489, doi. 10.1002/(SICI)1098-1004(1997)10:6<489::AID-HUMU12>3.0.CO;2-W
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- Publication type:
- Article
Characterization of ATM gene mutations in 66 ataxia telangiectasia families.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 1, p. 69, doi. 10.1093/hmg/8.1.69
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- Publication type:
- Article
High level of unequal meiotic crossovers at the origin of the 22q11.2 and 7q11.23 deletions.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 5, p. 887, doi. 10.1093/hmg/7.5.887
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- Publication type:
- Article
Unusual pattern of mitochondrial DNA deletions in skeletal muscle of an adult human with chronic fatigue syndrome.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 4, p. 751
- By:
- Publication type:
- Article
Recurrent Nonconvulsive Status Epilepticus in a Patient with Coffin-Lowry Syndrome.
- Published in:
- Molecular Syndromology, 2015, v. 6, n. 2, p. 91, doi. 10.1159/000430429
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- Publication type:
- Article