Detalhe da pesquisa
1.
Challenges in genetic diagnosis, co-occurrence of 22q11.2 deletion syndrome and Noonan syndrome.
Am J Med Genet A
; 188(8): 2505-2508, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35689529
2.
Noonan syndrome with loose anagen hair with variants in the PPP1CB gene: First familial case reported.
Am J Med Genet A
; 185(4): 1256-1260, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33491856
3.
Providing more evidence on LZTR1 variants in Noonan syndrome patients.
Am J Med Genet A
; 182(2): 409-414, 2020 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31825158
4.
Rubinstein-Taybi syndrome in diverse populations.
Am J Med Genet A
; 182(12): 2939-2950, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-32985117
5.
Turner syndrome in diverse populations.
Am J Med Genet A
; 182(2): 303-313, 2020 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31854143
6.
Clinical and radiological heterogeneity for the rare FGFR3 variant, p.Ser344Cys, description of a third patient.
Am J Med Genet A
; 191(8): 2240-2244, 2023 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37128991
7.
22q11.2 deletion syndrome in diverse populations.
Am J Med Genet A
; 173(4): 879-888, 2017 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-28328118
8.
Down syndrome in diverse populations.
Am J Med Genet A
; 173(1): 42-53, 2017 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-27991738
9.
Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum.
Am J Med Genet A
; 170A(5): 1295-301, 2016 May.
Artigo
Inglês
| MEDLINE | ID: mdl-26792575
10.
Clinical and Genetic Analysis of Multiple Osteochondromas in A Cohort of Argentine Patients.
Genes (Basel)
; 13(11)2022 11 07.
Artigo
Inglês
| MEDLINE | ID: mdl-36360300
11.
A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival.
Am J Med Genet A
; 170(9): 2436-9, 2016 09.
Artigo
Inglês
| MEDLINE | ID: mdl-27354339
12.
Contribution of Mitochondrial DNA Heteroplasmy to the Congenital Cardiac and Palatal Phenotypic Variability in Maternally Transmitted 22q11.2 Deletion Syndrome.
Genes (Basel)
; 12(1)2021 01 13.
Artigo
Inglês
| MEDLINE | ID: mdl-33450921
13.
Clinical and molecular characterization of mitochondrial DNA disorders in a group of Argentinian pediatric patients.
Mol Genet Metab Rep
; 27: 100733, 2021 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-33717984
14.
Ehlers-Danlos Syndrome: Molecular and Clinical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia.
J Clin Endocrinol Metab
; 106(7): e2789-e2802, 2021 06 16.
Artigo
Inglês
| MEDLINE | ID: mdl-33482002
15.
Clinical and Radiologic Evaluation of an Individual with Hypochondroplasia and a Novel FGFR3 Mutation.
J Pediatr Genet
; 9(1): 48-52, 2020 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-31976144
16.
Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants.
Eur J Med Genet
; 63(9): 103996, 2020 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-32622958
17.
SHOX Deficiency in Argentinean Cohort: Long-Term Auxological Follow-Up and a Family's New Mutation.
J Pediatr Genet
; 8(3): 123-132, 2019 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-31406617
18.
A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome.
Eur J Hum Genet
; 12(12): 1069-72, 2004 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-15470362
19.
[Partial duplication of chromosome 4 in a patient with bilateral ocular coloboma]. / Duplicación parcial del cromosoma 4 asociada con coloboma ocular bilateral.
Arch Argent Pediatr
; 110(4): e59-62, 2012 Aug.
Artigo
Espanhol
| MEDLINE | ID: mdl-22859333
20.
Duplicación parcial del cromosoma 4 asociada con coloboma ocular bilateral / Partial duplication of chromosome 4 in a patient with bilateral ocular coloboma
Arch. argent. pediatr
; 110(4): e59-e62, ago. 2012. ilus
Artigo
Espanhol
| LILACS | ID: lil-657465