Detalhe da pesquisa
1.
A case of 49,XXXYY followed-up from infancy to adulthood with review of literature.
Endocr J
; 2024 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38684424
2.
Prevalence of germline GATA2 and SAMD9/9L variants in paediatric haematological disorders with monosomy 7.
Br J Haematol
; 191(5): 835-843, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32770553
3.
Unbalanced Y;7 Translocation between Two Low-Similarity Sequences Leading to SRY-Positive 45,X Testicular Disorders of Sex Development.
Cytogenet Genome Res
; 158(3): 115-120, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31266029
4.
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
5.
SHOX far-downstream copy-number variations involving cis-regulatory nucleotide variants in two sisters with Leri-Weill dyschondrosteosis.
Am J Med Genet A
; 179(9): 1778-1782, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31228230
6.
Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations.
J Med Genet
; 55(2): 81-85, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29175836
7.
A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history.
Am J Med Genet A
; 176(2): 415-420, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29266745
8.
Xp22.31 Microdeletion due to Microhomology-Mediated Break-Induced Replication in a Boy with Contiguous Gene Deletion Syndrome.
Cytogenet Genome Res
; 151(1): 1-4, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28253503
9.
SOX2 nonsense mutation in a patient clinically diagnosed with non-syndromic hypogonadotropic hypogonadism.
Endocr J
; 64(8): 813-817, 2017 Aug 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-28659543
10.
Clinical and Immunological Analyses of Ten Patients with MIRAGE Syndrome.
J Clin Immunol
; 41(3): 709-711, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33423168
11.
Complex X-Chromosomal Rearrangements in Two Women with Ovarian Dysfunction: Implications of Chromothripsis/Chromoanasynthesis-Dependent and -Independent Origins of Complex Genomic Alterations.
Cytogenet Genome Res
; 150(2): 86-92, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-28099951
12.
Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis.
J Hum Genet
; 61(7): 585-91, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26984564
13.
Germline loss-of-function SAMD9 and SAMD9L alterations in adult myelodysplastic syndromes.
Blood
; 132(21): 2309-2313, 2018 11 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-30322869
14.
Functional variants in a TTTG microsatellite on 15q26.1 cause familial nonautoimmune thyroid abnormalities.
Nat Genet
; 56(5): 869-876, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38714868
15.
Comment on: Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features of dyskeratosis congenita and IMAGe association.
Pediatr Blood Cancer
; 65(1)2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28834235
16.
(Epi)genetic and clinical characteristics in 84 patients with pseudohypoparathyroidism type 1B.
Eur J Endocrinol
; 189(6): 590-600, 2023 Dec 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38039118
17.
SOX10 Mutation Screening for 117 Patients with Kallmann Syndrome.
J Endocr Soc
; 5(7): bvab056, 2021 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34095692
18.
WDR11 is another causative gene for coloboma, cardiac anomaly and growth retardation in 10q26 deletion syndrome.
Eur J Med Genet
; 63(1): 103626, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30711679
19.
A case report and literature review of monoallelic mutation of GHR.
J Pediatr Endocrinol Metab
; 32(4): 415-419, 2019 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-30893054
20.
MIRAGE syndrome with recurrent pneumonia probably associated with gastroesophageal reflux and achalasia: A case report.
Clin Pediatr Endocrinol
; 28(4): 147-153, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31666768