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1.
Frequency and clinical characteristics of distinct etiologies in patients with Silver-Russell syndrome diagnosed based on the Netchine-Harbison clinical scoring system.
J Hum Genet
; 67(10): 607-611, 2022 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-35606504
2.
Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology.
J Med Genet
; 56(6): 413-418, 2019 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30242100
3.
IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients.
Clin Endocrinol (Oxf)
; 80(5): 706-13, 2014 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-24313804
4.
Risk assessment of assisted reproductive technology and parental age at childbirth for the development of uniparental disomy-mediated imprinting disorders caused by aneuploid gametes.
Clin Epigenetics
; 15(1): 78, 2023 05 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-37147716
5.
Pathogenic Copy Number and Sequence Variants in Children Born SGA With Short Stature Without Imprinting Disorders.
J Clin Endocrinol Metab
; 107(8): e3121-e3133, 2022 07 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-35583390
6.
Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum.
J Clin Endocrinol Metab
; 106(3): 802-813, 2021 03 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-33236057
7.
Genome-wide methylation analysis in Silver-Russell syndrome, Temple syndrome, and Prader-Willi syndrome.
Clin Epigenetics
; 12(1): 159, 2020 10 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-33092629
8.
Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients.
Clin Epigenetics
; 12(1): 86, 2020 06 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-32546215
9.
Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects.
Clin Epigenetics
; 9: 52, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-28515796
10.
Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver-Russell Syndrome-compatible phenotype.
Eur J Hum Genet
; 23(8): 1062-7, 2015 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-25351781
11.
Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome.
PLoS One
; 8(3): e60105, 2013.
Artículo
en Inglés
| MEDLINE | ID: mdl-23533668
12.
Paternal uniparental disomy 14 and related disorders: placental gene expression analyses and histological examinations.
Epigenetics
; 7(10): 1142-50, 2012 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-22917972
13.
Isolated central nervous system (CNS) relapse in a case of childhood systemic anaplastic large cell lymphoma without initial CNS involvement.
J Pediatr Hematol Oncol
; 25(12): 975-7, 2003 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-14663283
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