Detalhe da pesquisa
1.
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.
Am J Hum Genet;
111(6): 1206-1221, 2024 Jun 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38772379
2.
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
Am J Hum Genet;
108(6): 1053-1068, 2021 06 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33909990
3.
MKL1 deficiency results in a severe neutrophil motility defect due to impaired actin polymerization.
Blood;
135(24): 2171-2181, 2020 06 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32128589
4.
Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.
Am J Hum Genet;
102(4): 685-695, 2018 04 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29576219
5.
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.
Genet Med;
23(6): 1028-1040, 2021 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33658631
6.
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
Am J Hum Genet;
100(2): 216-227, 2017 02 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28065471
7.
Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxa.
J Inherit Metab Dis;
43(6): 1382-1391, 2020 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32418222
8.
Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging.
Prenat Diagn;
40(8): 972-983, 2020 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32333414
9.
Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype.
J Med Genet;
56(4): 220-227, 2019 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29967133
10.
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
J Inherit Metab Dis;
42(1): 5-28, 2019 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30740725
11.
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
Am J Hum Genet;
107(2): 374, 2020 08 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32763190
12.
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.
Am J Med Genet A;
176(4): 862-876, 2018 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29460469
13.
Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica.
Int J Mol Sci;
18(3)2017 Mar 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28294978
14.
A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract.
Am J Med Genet A;
164A(4): 1049-55, 2014 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24459010
15.
Long-term clinical outcome, therapy and mild mitochondrial dysfunction in hyperprolinemia.
J Inherit Metab Dis;
37(3): 383-90, 2014 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24173411
17.
Wrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylation.
Pediatr Dermatol;
31(1): e1-5, 2014.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24555185
18.
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.
Mol Genet Metab;
110(3): 352-61, 2013 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24035636
19.
Perinatal and early infantile symptoms in congenital disorders of glycosylation.
Am J Med Genet A;
161A(3): 578-84, 2013 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23401092
20.
Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies.
Eur J Hum Genet;
31(6): 654-662, 2023 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36781956