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1.
Phenotypic variability in Joubert syndrome is partially explained by ciliary pathophysiology.
Ann Hum Genet
; 88(1): 86-100, 2024 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-37921557
2.
Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathies.
Am J Med Genet A
; 194(2): 195-202, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-37774117
3.
Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes.
J Med Genet
; 60(7): 722-731, 2023 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-36543533
4.
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study.
J Med Genet
; 2023 Nov 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-37940383
5.
RNA sequencing reveals a complete picture of a homozygous missense variant in a patient with VPS13D movement disorder: a case report and review of the literature.
Mol Genet Genomics
; 298(5): 1185-1199, 2023 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-37340120
6.
Prevalence of lymphedema among Anderson-Fabry disease patients: A report from the Fabry registry.
Mol Genet Metab
; 138(4): 107538, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36812723
7.
Venglustat, an orally administered glucosylceramide synthase inhibitor: Assessment over 3 years in adult males with classic Fabry disease in an open-label phase 2 study and its extension study.
Mol Genet Metab
; 138(2): 106963, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36481125
8.
Clinical outcomes among young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age: An analysis from the Fabry Registry.
Mol Genet Metab
; 138(2): 106967, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36709533
9.
Global reach of over 20 years of experience in the patient-centered Fabry Registry: Advancement of Fabry disease expertise and dissemination of real-world evidence to the Fabry community.
Mol Genet Metab
; 139(3): 107603, 2023 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-37236007
10.
Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller-Dieker syndrome.
Am J Med Genet A
; 191(2): 526-539, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36433683
11.
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Am J Med Genet A
; 191(8): 2113-2131, 2023 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-37377026
12.
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.
Brain
; 145(9): 3274-3287, 2022 09 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-35769015
13.
Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.
J Med Genet
; 59(11): 1058-1068, 2022 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-35232796
14.
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.
Am J Hum Genet
; 105(4): 854-868, 2019 10 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31585109
15.
Redefining the Etiologic Landscape of Cerebellar Malformations.
Am J Hum Genet
; 105(3): 606-615, 2019 09 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-31474318
16.
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
Am J Hum Genet
; 105(4): 689-705, 2019 10 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31495489
17.
Robin sequence without cleft palate: Genetic diagnoses and management implications.
Am J Med Genet A
; 188(1): 160-177, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34569146
18.
PPP2R1A neurodevelopmental disorder is associated with congenital heart defects.
Am J Med Genet A
; 188(11): 3262-3277, 2022 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-36209351
19.
Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction.
Genet Med
; 23(5): 845-855, 2021 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33495531
20.
Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines.
Am J Med Genet A
; 185(8): 2374-2383, 2021 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-33969943