Detalhe da pesquisa
1.
Simpson-Golabi-Behmel syndrome in a female: A case report and an unsolved issue.
Am J Med Genet A
; 173(1): 285-288, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27739211
2.
Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasia.
Am J Med Genet A
; 158A(9): 2245-9, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22807161
3.
Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype.
Genes (Basel)
; 13(7)2022 06 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35885943
4.
Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double Diagnosis.
Genes (Basel)
; 12(12)2021 11 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-34946857
5.
Unexpected finding of a paternal premutation of the fragile X FMR1 gene in a female fetus of a premutation carrier mother.
Am J Med Genet A
; 152A(2): 409-12, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20082462
6.
Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation.
Eur J Hum Genet
; 28(5): 567-575, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31804632
7.
Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families.
Genes (Basel)
; 11(3)2020 02 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-32111011
8.
A premature infant with Costello syndrome due to a rare G13C HRAS mutation.
Am J Med Genet A
; 149A(3): 487-9, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19213030
9.
Correlation between GJB2 mutations and audiological deficits: personal experience.
Eur Arch Otorhinolaryngol
; 266(4): 489-94, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18668259
10.
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome.
Eur J Hum Genet
; 27(9): 1361-1368, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31053777
11.
A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy.
Eur J Hum Genet
; 16(2): 209-14, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17971832
12.
Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1 gene in fragile X cells treated with 5-azadeoxycytidine.
Nucleic Acids Res
; 30(14): 3278-85, 2002 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-12136110
13.
Differential epigenetic modifications in the FMR1 gene of the fragile X syndrome after reactivating pharmacological treatments.
Eur J Hum Genet
; 13(5): 641-8, 2005 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-15741991
14.
Recombinant GroES in combination with CpG oligodeoxynucleotides protects mice against Mycobacterium avium infection.
J Med Microbiol
; 51(12): 1071-1079, 2002 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-12466405
15.
Mild Beckwith-Wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p.
Eur J Hum Genet
; 21(9): 965-9, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23511928
16.
Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansions.
J Neurol
; 260(5): 1245-57, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23263591
17.
A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family.
Am J Med Genet A
; 140(5): 482-7, 2006 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-16470793
18.
Molecular dissection of the events leading to inactivation of the FMR1 gene.
Hum Mol Genet
; 14(2): 267-77, 2005 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15563507