Detalhe da pesquisa
1.
Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA.
Am J Med Genet A
; 194(1): 64-69, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37705207
2.
Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age.
Am J Obstet Gynecol
; 230(3): 368.e1-368.e12, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37717890
3.
A case-control study of bleeding risk in children with 22q11.2 deletion syndrome undergoing cardiac surgery.
Platelets
; 35(1): 2290108, 2024 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38099325
4.
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects.
Am J Hum Genet
; 106(1): 26-40, 2020 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31870554
5.
Immunologic, Molecular, and Clinical Profile of Patients with Chromosome 22q11.2 Duplications.
J Clin Immunol
; 43(4): 794-807, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36735193
6.
Platelet findings in 22q11.2 deletion syndrome correlate with disease manifestations but do not correlate with GPIb surface expression.
Clin Genet
; 103(1): 109-113, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36075864
7.
Psychosis spectrum features, neurocognition and functioning in a longitudinal study of youth with 22q11.2 deletion syndrome.
Psychol Med
; : 1-10, 2023 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-36987693
8.
Distinct immune trajectories in patients with chromosome 22q11.2 deletion syndrome and immune-mediated diseases.
J Allergy Clin Immunol
; 149(1): 445-450, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34144109
9.
The experience of one pediatric geneticist with telemedicine-based clinical diagnosis.
Am J Med Genet A
; 188(12): 3416-3422, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35906847
10.
Gastrointestinal Features of 22q11.2 Deletion Syndrome Include Chronic Motility Problems From Childhood to Adulthood.
J Pediatr Gastroenterol Nutr
; 75(2): e8-e14, 2022 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35641891
11.
Chromosome 22q11 copy number variants and single ventricle CHD.
Cardiol Young
; : 1-5, 2022 Feb 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35199637
12.
Surgical insights and management in patients with the 22q11.2 deletion syndrome.
Pediatr Surg Int
; 38(6): 899-905, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35411495
13.
Chromatin Modifications in 22q11.2 Deletion Syndrome.
J Clin Immunol
; 41(8): 1853-1864, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34435264
14.
Cardiac evaluation of patients with 22q11.2 duplication syndrome.
Am J Med Genet A
; 185(3): 753-758, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33369133
15.
Aortic Root Dilation in Patients with 22q11.2 Deletion Syndrome Without Intracardiac Anomalies.
Pediatr Cardiol
; 42(7): 1594-1600, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34128123
16.
Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition.
Genet Med
; 22(2): 326-335, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31474763
17.
Palatal evaluation and treatment in 22q11.2 deletion syndrome.
Am J Med Genet A
; 179(7): 1184-1195, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31038278
18.
The impact of hypocalcemia on full scale IQ in patients with 22q11.2 deletion syndrome.
Am J Med Genet A
; 176(10): 2167-2171, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30380188
19.
Elucidating the diagnostic odyssey of 22q11.2 deletion syndrome.
Am J Med Genet A
; 176(4): 936-944, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29575622
20.
What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia.
Am J Med Genet A
; 176(10): 2058-2069, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30380191