Detalhe da pesquisa
1.
Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation.
Am J Hum Genet
; 111(4): 761-777, 2024 Apr 04.
Artigo
Inglês
| MEDLINE | ID: mdl-38503299
2.
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.
Genet Med
; 23(10): 1889-1900, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34113007
3.
Updating the neurodevelopmental profile of Alazami syndrome: Illustrating the role of developmental assessment in rare genetic disorders.
Am J Med Genet A
; 179(8): 1565-1569, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-31074943
4.
Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination.
Am J Hum Genet
; 96(5): 709-19, 2015 May 07.
Artigo
Inglês
| MEDLINE | ID: mdl-25865492
5.
Pulmonary Vasculopathy Associated with FIGF Gene Mutation.
Am J Pathol
; 187(1): 25-32, 2017 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-27846380
6.
Utility of Genetic Testing in Fetal Alcohol Spectrum Disorder.
J Pediatr
; 196: 270-274.e1, 2018 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29398060
7.
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.
Hum Genet
; 136(4): 463-479, 2017 04.
Artigo
Inglês
| MEDLINE | ID: mdl-28283832
8.
Musculoskeletal Conditions in a Pediatric Population with Ehlers-Danlos Syndrome.
J Pediatr
; 181: 261-266, 2017 02.
Artigo
Inglês
| MEDLINE | ID: mdl-27908650
9.
Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures.
Am J Med Genet A
; 170A(2): 435-440, 2016 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-26463574
10.
Copy number variation plays an important role in clinical epilepsy.
Ann Neurol
; 75(6): 943-58, 2014 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-24811917
11.
Progressive Postnatal Pansynostosis.
Cleft Palate Craniofac J
; 52(6): 751-7, 2015 11.
Artigo
Inglês
| MEDLINE | ID: mdl-25350344
12.
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.
Eur J Hum Genet
; 31(10): 1117-1124, 2023 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37500725
13.
Magnetic resonance imaging for detection of brain abnormalities in fetuses with cleft lip and/or cleft palate.
Cleft Palate Craniofac J
; 48(5): 619-22, 2011 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-20815717
14.
FOXE3 plays a significant role in autosomal recessive microphthalmia.
Am J Med Genet A
; 152A(3): 582-90, 2010 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-20140963
15.
Deletion of chromosome 8q22.1, a critical region for Nablus mask-like facial syndrome: four additional cases support a role of genetic modifiers in the manifestation of the phenotype.
Am J Med Genet A
; 167(6): 1400-5, 2015 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-25846266
16.
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.
Am J Med Genet B Neuropsychiatr Genet
; 153B(4): 937-47, 2010 Jun 05.
Artigo
Inglês
| MEDLINE | ID: mdl-20468056
17.
Recent developments in fetal alcohol spectrum disorder.
Curr Opin Endocrinol Diabetes Obes
; 27(1): 77-81, 2020 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31789722
18.
Mitral valve prolapse in Marfan syndrome: an old topic revisited.
Echocardiography
; 26(4): 357-64, 2009 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-19054044
19.
Cleft palate in Pfeiffer syndrome.
J Craniofac Surg
; 20(5): 1375-7, 2009 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-19816260
20.
Congenital malformations among infants born to women receiving montelukast, inhaled corticosteroids, and other asthma medications.
J Allergy Clin Immunol
; 129(1): 251-4.e1-6, 2012 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-22000568