Detalhe da pesquisa
1.
CDKN1C hyperexpression in two patients with severe growth failure and microdeletions affecting the paternally inherited KCNQ1OT1:TSS-DMR.
J Med Genet;
59(12): 1241-1246, 2022 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35906012
2.
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.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35606504
3.
Loss of imprinting of the human-specific imprinted gene ZNF597 causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver-Russell syndrome.
J Med Genet;
58(6): 427-432, 2021 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32576657
4.
Quantitative assessment of coat-hanger ribs detected on three-dimensional ultrasound for prenatal diagnosis of Kagami-Ogata syndrome.
J Obstet Gynaecol Res;
48(12): 3314-3318, 2022 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36087043
5.
Kagami-Ogata syndrome in a patient with 46,XX,t(2;14)(q11.2;q32.2)mat disrupting MEG3.
J Hum Genet;
66(4): 439-443, 2021 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33067531
6.
A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2.
J Hum Genet;
66(11): 1121-1126, 2021 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34031513
7.
Insulin resistant diabetes mellitus in SHORT syndrome: case report and literature review.
Endocr J;
68(1): 111-117, 2021 Jan 28.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32879144
8.
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.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30242100
9.
DNA Methylation Status of SHOX-Flanking CpG Islands in Healthy Individuals and Short Stature Patients with Pseudoautosomal Copy Number Variations.
Cytogenet Genome Res;
158(2): 56-62, 2019.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31158835
10.
A case of paternal uniparental isodisomy for chromosome 7 associated with overgrowth.
J Med Genet;
55(8): 567-570, 2018 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29455159
11.
A severely short-statured girl with 47,XX, + 14/46,XX,upd(14)mat, mosaicism.
J Hum Genet;
63(3): 377-381, 2018 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29311684
12.
De novo IGF2 mutation on the paternal allele in a patient with Silver-Russell syndrome and ectrodactyly.
Hum Mutat;
38(8): 953-958, 2017 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28489339
13.
A de novo 50-bp GNAS Intragenic Duplication in a Patient with Pseudohypoparathyroidism Type 1a.
Cytogenet Genome Res;
153(3): 125-130, 2017.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29320763
14.
Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome.
Genet Med;
19(4): 476-482, 2017 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27632690
15.
Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients.
Genet Med;
19(12): 1356-1366, 2017 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28640239
16.
Sustained endocrine profiles of a girl with WAGR syndrome.
BMC Med Genet;
18(1): 117, 2017 10 23.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29061165
17.
Maternally derived 15q11.2-q13.1 duplication and H19-DMR hypomethylation in a patient with Silver-Russell syndrome.
J Hum Genet;
62(10): 919-922, 2017 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28592837
18.
Kagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region.
J Hum Genet;
61(2): 87-94, 2016 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26377239
19.
Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon?
J Hum Genet;
61(8): 765-9, 2016 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27121328
20.
Sporadic pseudohypoparathyroidism type-1b with asymptomatic hypocalcemia.
Pediatr Int;
58(11): 1229-1231, 2016 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27882740