Search details
1.
Spread of X-chromosome inactivation into autosomal regions in patients with unbalanced X-autosome translocations and its phenotypic effects.
Am J Med Genet A
; 185(8): 2295-2305, 2021 08.
Article
in English
| MEDLINE | ID: mdl-33913603
2.
Rubinstein-Taybi syndrome in diverse populations.
Am J Med Genet A
; 182(12): 2939-2950, 2020 12.
Article
in English
| MEDLINE | ID: mdl-32985117
3.
Non-mosaic partial duplication 12p in a patient with dysmorphic characteristics and developmental delay.
Genet Mol Biol
; 43(1): e20180285, 2020.
Article
in English
| MEDLINE | ID: mdl-31429857
4.
Cornelia de Lange syndrome in diverse populations.
Am J Med Genet A
; 179(2): 150-158, 2019 02.
Article
in English
| MEDLINE | ID: mdl-30614194
5.
Incorporation of 5-ethynyl-2'-deoxyuridine (EdU) as a novel strategy for identification of the skewed X inactivation pattern in balanced and unbalanced X-rearrangements.
Hum Genet
; 135(2): 185-92, 2016 Feb.
Article
in English
| MEDLINE | ID: mdl-26670424
6.
X-linked intellectual disability related genes disrupted by balanced X-autosome translocations.
Am J Med Genet B Neuropsychiatr Genet
; 168(8): 669-77, 2015 Dec.
Article
in English
| MEDLINE | ID: mdl-26290131
7.
A study of the role of the FOXP2 and CNTNAP2 genes in persistent developmental stuttering.
Neurobiol Dis
; 69: 23-31, 2014 Sep.
Article
in English
| MEDLINE | ID: mdl-24807205
8.
Folic Acid Fortification and Women's Folate Levels in Selected Communities in Brazil - A First Look.
Int J Vitam Nutr Res
; 84(5-6): 286-94, 2014.
Article
in English
| MEDLINE | ID: mdl-26255550
9.
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.
Nat Genet
; 32(2): 285-9, 2002 Oct.
Article
in English
| MEDLINE | ID: mdl-12219090
10.
Oral cleft prevention program (OCPP).
BMC Pediatr
; 12: 184, 2012 Nov 26.
Article
in English
| MEDLINE | ID: mdl-23181832
11.
Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome.
Am J Med Genet A
; 155A(6): 1314-21, 2011 Jun.
Article
in English
| MEDLINE | ID: mdl-21574244
12.
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome.
Genet Med
; 11(4): 241-7, 2009 Apr.
Article
in English
| MEDLINE | ID: mdl-19282774
13.
Search for genomic alterations in monozygotic twins discordant for cleft lip and/or palate.
Twin Res Hum Genet
; 12(5): 462-8, 2009 Oct.
Article
in English
| MEDLINE | ID: mdl-19803774
14.
Schilbach-Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene.
Eur J Hum Genet
; 27(8): 1260-1266, 2019 08.
Article
in English
| MEDLINE | ID: mdl-30936464
15.
Schilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patient.
Am J Med Genet A
; 146A(16): 2134-7, 2008 Aug 15.
Article
in English
| MEDLINE | ID: mdl-18627062
16.
X-chromosome inactivation patterns in monozygotic twins and sib pairs discordant for nonsyndromic cleft lip and/or palate.
Am J Med Genet A
; 143A(24): 3267-72, 2007 Dec 15.
Article
in English
| MEDLINE | ID: mdl-18000982
17.
Evaluation of the association between polymorphisms at the DRD2 locus and stuttering.
J Hum Genet
; 56(6): 472-3, 2011 Jun.
Article
in English
| MEDLINE | ID: mdl-21390039
18.
Differential diagnosis of Smith-Magenis syndrome: 1p36 deletion syndrome.
Am J Med Genet A
; 155A(5): 988-92, 2011 May.
Article
in English
| MEDLINE | ID: mdl-21480478
19.
[Genetics and language in Williams-Beuren Syndrome: a distinct neurobehavioral disorder]. / Genética e linguagem na síndrome de Williams-Beuren: uma condição neuro-cognitiva peculiar.
Pro Fono
; 18(3): 331-8, 2006.
Article
in Portuguese
| MEDLINE | ID: mdl-17180802
20.
Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes.
Eur J Hum Genet
; 24(4): 529-34, 2016 Apr.
Article
in English
| MEDLINE | ID: mdl-26130485