Detalhe da pesquisa
1.
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Am J Hum Genet
; 111(4): 778-790, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38531365
2.
Homozygous deletion of the DSG3 terminal exon associated with acantholytic blistering of the oral and laryngeal mucosa.
Am J Med Genet A
; 194(2): 389-393, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37850634
3.
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Am J Hum Genet
; 111(6): 1240, 2024 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38749428
4.
Cardiovascular manifestations of hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders.
Vasc Med
; 27(3): 283-289, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35000503
5.
Dysautonomia in hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders is associated with exercise intolerance and cardiac atrophy.
Am J Med Genet A
; 185(12): 3754-3761, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34331416
6.
Headaches in hypermobility syndromes: A pain in the neck?
Am J Med Genet A
; 182(12): 2902-2908, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32940405
7.
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
J Hum Genet
; 64(12): 1173-1186, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31530938
8.
Clinical Manifestations of Noonan Syndrome and Related Disorders.
Pediatr Endocrinol Rev
; 16(Suppl 2): 428-434, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-31115194
9.
Molecular Genetics of Noonan Syndrome and RASopathies.
Pediatr Endocrinol Rev
; 16(Suppl 2): 435-446, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-31115195
10.
CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein.
Am J Hum Genet
; 96(1): 162-9, 2015 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-25557780
11.
Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN.
Am J Med Genet A
; 176(9): 1956-1963, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30088856
12.
The Mount Sinai clinical pathway for the management of pheochromocytoma.
Endocr Pract
; 21(4): 368-82, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25297659
13.
Cleft lip and/or palate: one organization's experience with more than a quarter million surgeries during the past decade.
J Craniofac Surg
; 25(5): 1601-9, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25072973
14.
Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy.
Mol Genet Metab
; 110(3): 345-351, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23856421
15.
8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients.
Am J Med Genet A
; 161A(3): 487-500, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23345203
16.
Complex autism spectrum disorder in a patient with a 17q12 microduplication.
Am J Med Genet A
; 158A(5): 1170-7, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22488896
17.
Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy.
Prenat Diagn
; 32(1): 70-4, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22367672
18.
Clinical and molecular characterization of chromosome 7p22.1 microduplication detected by array CGH.
Am J Med Genet A
; 155A(10): 2508-11, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21998864
19.
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
Hum Mutat
; 31(10): 1142-54, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20672375
20.
Pompe disease: dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients.
Mol Genet Metab
; 101(2-3): 130-3, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20638881