ArticleDiagnostics (Basel, Switzerland)2026
Molecular Diagnosis and Phenotypic Variability of Noonan Syndrome: Experience from a Romanian Multicenter Study.
Florina Victoria Nazarie, Mihaela Amelia Dobrescu, Cecilia Lazea, Ana Adriana David, Crina Șufană, Simona Bucerzan, Simona Sorana Cainap, Raluca Rancea, Oana Stănoiu-Pînzariu, Ionela Maria Pascanu and 6 more
Abstract read
In one paragraphArticle in Diagnostics (Basel, Switzerland), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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What it found
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2 · The registryThe trial behind it
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5 · Who and what moneyAuthors and funding
16 authors.
Florina Victoria NazarieDiscipline of Medical Genetics, "Iuliu Hațieganu" University of Medicine and Pharmacy, 6, Pasteur St., 400349 Cluj-Napoca, Romania.ORCID 0000-0002-8864-9191 Mihaela Amelia DobrescuDepartment of Medical Genetics, University of Medicine and Pharmacy of Craiova, 2, Petru Rareș St., 200349 Craiova, Romania.ORCID 0000-0001-7091-4295 Cecilia Lazea1st Pediatric Discipline, Mother and Child Department, "Iuliu Hațieganu" University of Medicine and Pharmacy, 68, Calea Moților St., 400370 Cluj-Napoca, Romania.ORCID 0000-0002-7649-5308 Ana Adriana David1st Pediatrics Clinic, Children's Emergency Clinical Hospital, 68, Calea Moților St., 400370 Cluj-Napoca, Romania.ORCID 0009-0005-6374-7413 Crina Șufană1st Pediatrics Clinic, Children's Emergency Clinical Hospital, 68, Calea Moților St., 400370 Cluj-Napoca, Romania.
Simona Bucerzan1st Pediatric Discipline, Mother and Child Department, "Iuliu Hațieganu" University of Medicine and Pharmacy, 68, Calea Moților St., 400370 Cluj-Napoca, Romania.ORCID 0000-0003-4557-0333 Simona Sorana Cainap2nd Pediatric Department, Clinical Children Hospital, 3-5, Crisan St., 400124 Cluj-Napoca, Romania.ORCID 0000-0001-9500-2372 Raluca RanceaDepartment of Cardiology, "Niculae Stancioiu" Heart Institute, 19-21, Motilor St., 400001 Cluj-Napoca, Romania.ORCID 0000-0001-6571-4352 Oana Stănoiu-PînzariuDepartment of Endocrinology, "Iuliu Hațieganu" University of Medicine and Pharmacy, 3, Pasteur St., 400349 Cluj-Napoca, Romania.ORCID 0000-0002-0194-7605 Ionela Maria PascanuDepartment of Endocrinology, George Emil Palade University of Medicine, Pharmacy, Sciences and Technology of Târgu Mureș, 46, Gheorghe Marinescu St., 540136 Târgu Mureș, Romania.ORCID 0000-0003-0679-1379 Radu Anghel PoppDiscipline of Medical Genetics, "Iuliu Hațieganu" University of Medicine and Pharmacy, 6, Pasteur St., 400349 Cluj-Napoca, Romania.ORCID 0000-0002-1494-5369 Laura Ancuta PopGenomics Department, MEDFUTURE-Institute for Biomedical Research, "Iuliu Hațieganu" University of Medicine and Pharmacy, 23, Gheorghe Marinescu St., 400337 Cluj-Napoca, Romania.ORCID 0000-0002-5806-0220 Călin Lazăr1st Pediatric Discipline, Mother and Child Department, "Iuliu Hațieganu" University of Medicine and Pharmacy, 68, Calea Moților St., 400370 Cluj-Napoca, Romania.ORCID 0000-0001-7750-431X Camelia Alkhzouz1st Pediatric Discipline, Mother and Child Department, "Iuliu Hațieganu" University of Medicine and Pharmacy, 68, Calea Moților St., 400370 Cluj-Napoca, Romania.ORCID 0000-0003-4364-7181 Diana Miclea1st Pediatric Discipline, Mother and Child Department, "Iuliu Hațieganu" University of Medicine and Pharmacy, 68, Calea Moților St., 400370 Cluj-Napoca, Romania.ORCID 0000-0001-8777-0689 Romana VulturarDiscipline of Cell and Molecular Biology, "Iuliu Hațieganu" University of Medicine and Pharmacy, 6, Pasteur St., 400349 Cluj-Napoca, Romania.ORCID 0000-0003-2476-9706 Funding
"Iuliu Hațieganu" University of Medicine and Pharmacy from Cluj-Napoca, Romania Doctoral Research Program PCD 771/48.
6 · The paper itselfAbstract
PubMed holds no abstract for this paper.
Indexed as
LZTR1Noonan syndromePTPN11pulmonary valve stenosisRAF1RAS/MAPK pathwayRASopathiesshort statureSOS1
Identifiers
PMID42072833
PMCPMC13114569
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