Detalhe da pesquisa
1.
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function.
Hum Mol Genet
; 2024 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38676400
2.
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.
Am J Hum Genet
; 109(4): 750-758, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35202563
3.
A human importin-ß-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8.
Am J Hum Genet
; 108(6): 1115-1125, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34010605
4.
Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance.
Hum Genomics
; 17(1): 16, 2023 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36859317
5.
Epilepsy with faint capillary malformation or reticulated telangiectasia associated with mosaic AKT3 pathogenic variants.
Am J Med Genet A
; 194(6): e63551, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38321651
6.
Ureteropelvic junction obstruction with primary lymphoedema associated with CELSR1 variants.
J Med Genet
; 60(12): 1161-1168, 2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37225411
7.
Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia.
J Med Genet
; 60(5): 498-504, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36241386
8.
De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy.
Genet Med
; 25(7): 100859, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37092538
9.
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
10.
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
Am J Hum Genet
; 104(1): 139-156, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30595372
11.
GNA11-mutated Sturge-Weber syndrome has distinct neurological and dermatological features.
Eur J Neurol
; 29(10): 3061-3070, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35715928
12.
RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation.
J Med Genet
; 57(1): 48-52, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31300548
13.
Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes.
J Med Genet
; 55(7): 449-458, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29500247
14.
Cervical artery dissection: fibromuscular dysplasia versus vascular Ehlers-Danlos syndrome.
Blood Press
; 28(2): 139-143, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30623691
15.
Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.
Circulation
; 136(11): 1037-1048, 2017 Sep 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28687708
16.
Unmasking familial CPX by WES and identification of novel clinical signs.
Am J Med Genet A
; 176(12): 2661-2667, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30462376
17.
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
18.
FOXP1-related intellectual disability syndrome: a recognisable entity.
J Med Genet
; 54(9): 613-623, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28735298
19.
Angiosarcoma arising from congenital primary lymphedema.
Pediatr Dermatol
; 35(6): e382-e388, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30216524
20.
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
Am J Hum Genet
; 104(2): 357, 2019 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30735662