Detalhe da pesquisa
1.
Increasing knowledge in IGF1R defects: lessons from 35 new patients.
J Med Genet
; 57(3): 160-168, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31586944
2.
Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations.
Hum Mutat
; 40(11): 2033-2043, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31231873
3.
Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes.
Genet Res (Camb)
; 101: e3, 2019 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30829192
4.
Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences.
J Med Genet
; 55(3): 205-213, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29223973
5.
Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.
Hum Mutat
; 39(6): 790-805, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29637653
6.
Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction.
Genet Med
; 20(2): 250-258, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28796236
7.
Placental Pathology in Beckwith-Wiedemann Syndrome According to Genotype/Epigenotype Subgroups.
Fetal Pediatr Pathol
; 37(6): 387-399, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30633605
8.
Corpus Callosum Abnormalities and Short Femurs in Beckwith-Wiedemann Syndrome: A Report of Two Fetal Cases.
Fetal Pediatr Pathol
; 37(6): 411-417, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30595068
9.
11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver-Russell Syndrome.
Hum Mutat
; 38(1): 105-111, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27701793
10.
Nomenclature and definition in asymmetric regional body overgrowth.
Am J Med Genet A
; 173(7): 1735-1738, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28475229
11.
Unilateral nephrocalcinosis.
Kidney Int
; 100(5): 1145, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34688381
12.
Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome.
Hum Mol Genet
; 23(21): 5763-73, 2014 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24916376
13.
New clinical and molecular insights into Silver-Russell syndrome.
Curr Opin Pediatr
; 28(4): 529-35, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27386972
14.
Is Nephron Sparing Surgery Justified in Wilms Tumor With Beckwith-Wiedemann Syndrome or Isolated Hemihypertrophy?
Pediatr Blood Cancer
; 63(9): 1571-7, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27228957
15.
Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization.
Hum Mutat
; 36(9): 894-902, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26077438
16.
Complex tissue-specific epigenotypes in Russell-Silver Syndrome associated with 11p15 ICR1 hypomethylation.
Hum Mutat
; 35(10): 1211-20, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25044976
17.
Ciliopathy due to POC1A deficiency: clinical and metabolic features, and cellular modeling.
Eur J Endocrinol
; 190(2): 151-164, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38245004
18.
Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.
Hum Mutat
; 39(12): 2110-2112, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30447178
19.
SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development.
Hum Reprod
; 27(5): 1460-5, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22416012
20.
Comment on: Juvenile granulosa cell ovarian tumor in a child with Beckwith-Wiedemann syndrome.
Pediatr Blood Cancer
; 64(8)2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28074636