Detalhe da pesquisa
1.
The importance of patient-specific resources for families dealing with prenatal rare diseases.
Am J Med Genet A
; 194(3): e63450, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37861066
2.
Enlarged cavum septum pellucidum and small thymus as markers for 22q11.2 deletion syndrome.
Prenat Diagn
; 2024 Mar 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38497811
3.
Prenatal cardiac findings and 22q11.2 deletion syndrome: Fetal detection and evaluation.
Prenat Diagn
; 2024 Apr 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38593251
4.
Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome.
Genet Med
; 25(3): 100338, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36729053
5.
Genomic sequencing in a cohort of individuals with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome.
Am J Med Genet A
; 191(4): 977-982, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36610046
6.
The Genomics of Congenital Diaphragmatic Hernia: A 10-Year Retrospective Review.
J Pediatr
; 248: 108-113.e2, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35430246
7.
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.
Am J Hum Genet
; 102(1): 116-132, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29290337
8.
'Steep learning curves' to 'Smooth Sailing': A reappraisal of telegenetics amidst the COVID-19 pandemic.
J Genet Couns
; 30(4): 1010-1023, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34355459
9.
Loss-of-function of Endothelin receptor type A results in Oro-Oto-Cardiac syndrome.
Am J Med Genet A
; 182(5): 1104-1116, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32133772
10.
Further delineation of the phenotypic spectrum of nevus comedonicus syndrome to include congenital pulmonary airway malformation of the lung and aneurysm.
Am J Med Genet A
; 182(4): 746-754, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31961058
11.
Genetic counseling for fetal gastrointestinal anomalies.
Curr Opin Obstet Gynecol
; 32(2): 134-139, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32039977
12.
Expanding the fetal phenotype: Prenatal sonographic findings and perinatal outcomes in a cohort of patients with a confirmed 22q11.2 deletion syndrome.
Am J Med Genet A
; 176(8): 1735-1741, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30055034
13.
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
14.
The Association of Fetal Thymus Size with Subsequent T Cell Counts in 22q11.2 Deletion Syndrome.
J Clin Immunol
; 40(5): 783-785, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32583204
15.
Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy.
Prenat Diagn
; 40(2): 276-281, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31736083
16.
Risk of meningomyelocele mediated by the common 22q11.2 deletion.
Science
; 384(6695): 584-590, 2024 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38696583
17.
Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions.
Genes (Basel)
; 14(1)2023 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36672900
18.
The impact of in utero transfusions on perinatal outcomes in patients with alpha thalassemia major: the UCSF registry.
Blood Adv
; 7(2): 269-279, 2023 01 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-36306387
19.
Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition.
JCI Insight
; 8(9)2023 05 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37154160
20.
Children's natural conversations following exposure to a rumor: linkages to later false reports.
J Exp Child Psychol
; 113(3): 383-400, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22846669