about
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontiaMutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation.Novel homozygous mutation in exon 5 of WFS1 gene in an Apulian family with mild phenotypic expression of Wolfram syndrome.Expanding the clinical and molecular spectrum of PRMT7 mutations: three additional patients and review.Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement.Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism.Novel EXT2 missense variants in a family with autosomal recessive EXT2-related syndrome (AREXT2): further evidences on the phenotypeSpecific combinations of biallelic variants cause Wiedemann-Rautenstrauch syndromeDe Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunctionV600E Inhibitor (Vemurafenib) for V600E Mutated Low Grade GliomasA case report on filamin A gene mutation and progressive pulmonary disease in an infant: A lung tissued derived mesenchymal stem cell studyPathogenic Variants in GPC4 Cause Keipert SyndromeCorrection to: Structural modeling of a novel TERC variant in a patient with aplastic anemia and short telomeresCongenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature reviewTwo novel mutations in exon 3 of PHOX2B gene: think about congenital central hypoventilation syndrome in patients with Hirschsprung diseaseVemurafenib Treatment of Pleomorphic Xanthoastrocytoma in a Child With Down SyndromeStructural modeling of a novel TERC variant in a patient with aplastic anemia and short telomeresKBG syndrome: Common and uncommon clinical features based on 31 new patientsALG12-CDG: novel glycophenotype insights endorse the molecular defectPrimary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14Burkitt lymphoma in a patient with Kabuki syndrome carrying a novel KMT2D mutationAutism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 geneNovel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos SyndromeCUGC for hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndromeGenetic identification and molecular modeling characterization of a novel POU3F4 variant in two Italian deaf brothersCUGC for lysinuric protein intolerance (LPI)COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlapInfantile-Onset Syndromic Cerebellar Ataxia and CACNA1G MutationsExpanding the clinical and molecular spectrum of lethal congenital contracture syndrome 8 associated with biallelic variants of ADCY6The p.Arg377Trp variant in ACTL6A underlines a recognizable BAF-opathy phenotypeFacial comedonal acne in orofaciodigital syndrome type 1 caused by a novel frameshift variant in OFD1A novel patient with White-Sutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype and suggests further observations14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomaliesRefinement of the Clinical and Mutational Spectrum of UBE2A Deficiency Syndrome
P50
Q24316230-070A1421-D8ED-4BB3-A025-1D740CB473BFQ34050968-34763ACE-7D0C-4C3A-8ECF-D845662246D5Q36695350-51D00002-A5B9-4AB9-B556-485DA6B69B9BQ44135427-3BEA5FCC-841E-4441-9247-74A806789662Q46860144-757D13E3-318B-4E44-9B87-E6CF37C64B69Q47809928-364F9F5F-E71D-4C9D-B860-52358AFB2FD9Q50301304-461B37FC-14E9-4317-B629-E6D66D0C8223Q52676189-4DE88736-FB75-4C1B-A326-C9003B7353A5Q57025918-61FC9403-74EF-4884-8A9A-91418D774DE8Q57463978-003214F3-D799-4D93-BC05-97EF5FA393E9Q58545518-61CA3696-8944-451B-9C01-F87007886C67Q59335097-07DAA356-AFF2-4E43-B46B-4091B93CA415Q61447325-87282C7B-2C96-48BE-BA13-1AB259FCB9B1Q64039545-FF5684EB-93B2-4A17-99E6-61C7D1441D31Q64042030-DD24538F-844A-4C64-AF3D-921C270163B6Q64101219-6734D79C-C098-4DDD-80B2-0964FE047C7BQ64102971-5DD65DF5-E8A0-4CC6-A9E2-39FFE6D96D5FQ64119164-C4F2BC8A-8170-4242-81C0-C59D85A08B65Q89450619-485D827F-14BE-408B-A0C4-CA2A8FCCECB9Q89988140-05CA9C68-04A0-472A-A37D-4C5270A3B2EFQ90141226-9C005124-50C4-4792-B0FD-8B4F6D6C7A53Q90607602-B709EC53-571A-4E84-BF77-049DF88C4E81Q90657649-2ED0971B-AEBB-41CA-A50C-4CF723EBF59EQ91368778-E585BFE0-A3D9-4005-9264-0F3BD8F3FF37Q91490794-AB23F2C2-A7DB-41B5-9055-83C94A794BDFQ91522868-434E2BE7-F82B-4FAA-91F3-182BEF0733F7Q91573150-DA702888-34D0-4199-962D-90C1C4D25E4FQ91583990-8AE8ACE7-A6A9-4A5D-9283-C6A67914EBAAQ91634361-6A9F5E39-A875-4557-96DC-77DD912A6FA7Q91970007-7AF44E3E-B4BF-4FE6-884C-68900005B3C8Q92040497-35A507F4-8E0B-474B-84CE-F9B1EAE01851Q93020989-39A84B25-C132-4F22-9376-322A79B5C5DBQ93365819-0A0B910A-C181-4454-8ADA-9B14D47E651EQ94485857-5F4A736E-1200-419A-9DEE-4A0EB92275D0Q94949808-ABFC0102-FE7D-4328-9426-DEDEBC26EA08Q94949815-BE3173AA-F294-453E-BC36-5B949E1A2C0B
P50
description
onderzoeker
@nl
researcher ORCID ID = 0000-0001-6543-6225
@en
name
Emanuele Agolini
@ast
Emanuele Agolini
@en
Emanuele Agolini
@es
Emanuele Agolini
@nl
type
label
Emanuele Agolini
@ast
Emanuele Agolini
@en
Emanuele Agolini
@es
Emanuele Agolini
@nl
prefLabel
Emanuele Agolini
@ast
Emanuele Agolini
@en
Emanuele Agolini
@es
Emanuele Agolini
@nl
P108
P106
P1153
35503079000
P31
P496
0000-0001-6543-6225