Detalhe da pesquisa
1.
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
J Med Genet
; 61(6): 503-519, 2024 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38471765
2.
Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.
Am J Med Genet A
; 194(3): e63466, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37949664
3.
Impact of variation in practice in the prenatal reporting of variants of uncertain significance by commercial laboratories: Need for greater adherence to published guidelines.
Prenat Diagn
; 42(12): 1514-1524, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36068917
4.
Etiologies and outcomes of prenatally diagnosed hyperechogenic kidneys.
Prenat Diagn
; 41(4): 465-477, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33337554
5.
Microarray results as an indicator of sexual abuse.
Paediatr Child Health
; 25(3): 134-135, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-32296272
6.
RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit-successes and challenges.
Eur J Pediatr
; 178(8): 1207-1218, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31172278
7.
Broad spectrum of neuropsychiatric phenotypes associated with white matter disease in PTEN hamartoma tumor syndrome.
Am J Med Genet B Neuropsychiatr Genet
; 177(1): 101-109, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29152901
8.
Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1.
J Hum Genet
; 62(6): 661-663, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28228640
9.
Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohort.
Am J Med Genet A
; 173(7): 1839-1847, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28488422
10.
Skeletal Dysplasias: What Every Bone Health Clinician Needs to Know.
Curr Osteoporos Rep
; 15(5): 419-424, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28808977
11.
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Hum Mol Genet
; 23(10): 2752-68, 2014 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24381304
12.
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.
CMAJ
; 188(11): E254-E260, 2016 Aug 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27241786
13.
Fetal segmental spinal dysgenesis and unusual segmental agenesis of the anterior spinal artery.
Childs Nerv Syst
; 32(8): 1537-41, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26969176
14.
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.
Am J Hum Genet
; 90(2): 308-13, 2012 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22265015
15.
Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis.
Hum Mutat
; 34(1): 97-102, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23033274
16.
Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit.
Am J Med Genet A
; 176(7): 1688-1691, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30160830
17.
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.
J Med Genet
; 49(7): 473-9, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22791840
18.
Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia.
Nat Commun
; 14(1): 7054, 2023 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37923733
19.
Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders.
J Bone Miner Res
; 38(5): 692-706, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36896612
20.
Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia.
Am J Hum Genet
; 85(2): 168-78, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19615667