Detalhe da pesquisa
1.
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
Am J Hum Genet
; 110(8): 1394-1413, 2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37467750
2.
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.
Hum Mutat
; 43(5): 582-594, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35170830
3.
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.
Am J Hum Genet
; 104(4): 758-766, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30929739
4.
Mandibular-pelvic-patellar syndrome is a novel PITX1-related disorder due to alteration of PITX1 transactivation ability.
Hum Mutat
; 41(9): 1499-1506, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32598510
5.
The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance.
Am J Med Genet A
; 176(12): 2740-2750, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30548201
6.
STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.
J Med Genet
; 54(7): 479-488, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28119487
7.
Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients.
Am J Med Genet A
; 173(12): 3136-3142, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29136349
8.
PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.
Am J Hum Genet
; 93(1): 141-9, 2013 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-23810378
9.
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.
Am J Med Genet A
; 170(11): 2847-2859, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27605097
10.
C5orf42 is the major gene responsible for OFD syndrome type VI.
Hum Genet
; 133(3): 367-77, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24178751
11.
LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters.
Eur J Med Genet
; 62(3): 161-166, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30006060
12.
Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.
Nat Genet
; 51(10): 1438-1441, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31570889