Detalhe da pesquisa
1.
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.
Genet Med
; 26(4): 101057, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38158856
2.
A case of mosaic deletion of paternally-inherited PLAGL1 and two cases of upd(6)mat add to evidence for PLAGL1 under-expression as a cause of growth restriction.
Am J Med Genet A
; 194(2): 383-388, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37850521
3.
Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B.
J Med Genet
; 60(2): 183-192, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35393335
4.
Update of penetrance estimates in Birt-Hogg-Dubé syndrome.
J Med Genet
; 60(4): 317-326, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36849229
5.
The avoidable delay in weight loss surgery for those with BMI over 50.
Surg Endosc
; 37(4): 3069-3072, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35920911
6.
Whole-genome analysis as a diagnostic tool for patients referred for diagnosis of Silver-Russell syndrome: a real-world study.
J Med Genet
; 59(6): 613-622, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34135092
7.
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.
Am J Med Genet A
; 188(1): 272-282, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34515416
8.
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
Am J Hum Genet
; 102(5): 985-994, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29656860
9.
Comparison of gastrojejunostomy techniques and anastomotic complications: a systematic literature review.
Surg Endosc
; 35(12): 6489-6496, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33159295
10.
Evaluating Real-World Adherence and Effectiveness of the "Reboot Online" Program for the Management of Chronic Pain in Routine Care.
Pain Med
; 22(8): 1784-1792, 2021 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33729536
11.
An Ancillary Central Catheter Emergency Support Service Team Staffed by Surgical Personnel Improves Workflow During the Coronavirus Disease 2019 Crisis.
Surg Innov
; 28(2): 231-235, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33153382
12.
Characterization of renal cell carcinoma-associated constitutional chromosome abnormalities by genome sequencing.
Genes Chromosomes Cancer
; 59(6): 333-347, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31943436
13.
Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications.
Clin Genet
; 98(1): 19-31, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32291752
14.
Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders.
Hum Mol Genet
; 26(3): 519-526, 2017 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28053047
15.
Expanding the phenotype of the X-linked BCOR microphthalmia syndromes.
Hum Genet
; 138(8-9): 1051-1069, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-29974297
16.
CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testing.
J Med Genet
; 55(2): 89-96, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28918392
17.
Axenfeld-Rieger syndrome: further clinical and array delineation of four unrelated patients with a 4q25 microdeletion.
Am J Med Genet A
; 164A(7): 1695-701, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24715413
18.
Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome).
PLoS Genet
; 5(3): e1000423, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19300480
19.
Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability.
Hum Mutat
; 32(8): 921-9, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21538689
20.
Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer.
J Med Genet
; 47(6): 385-90, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20522427