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1998 2
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TFE3-associated neurodevelopmental disorder: A distinct recognizable syndrome.
Diaz J, Berger S, Leon E. Diaz J, et al. Am J Med Genet A. 2020 Mar;182(3):584-590. doi: 10.1002/ajmg.a.61437. Epub 2019 Dec 12. Am J Med Genet A. 2020. PMID: 31833172
Early this year, Villegas et al. identified missense mutations in a TFE3 domain required for cytoplasmic inactivation as potentially causal for a mosaic human developmental disorder. They published five patients with de novo TFE3 nonsynonymous missense variants, four femal …
Early this year, Villegas et al. identified missense mutations in a TFE3 domain required for cytoplasmic inactivation as potentially causal …
Evidence for rRNA 2'-O-methylation plasticity: Control of intrinsic translational capabilities of human ribosomes.
Erales J, Marchand V, Panthu B, Gillot S, Belin S, Ghayad SE, Garcia M, Laforêts F, Marcel V, Baudin-Baillieu A, Bertin P, Couté Y, Adrait A, Meyer M, Therizols G, Yusupov M, Namy O, Ohlmann T, Motorin Y, Catez F, Diaz JJ. Erales J, et al. Proc Natl Acad Sci U S A. 2017 Dec 5;114(49):12934-12939. doi: 10.1073/pnas.1707674114. Epub 2017 Nov 20. Proc Natl Acad Sci U S A. 2017. PMID: 29158377 Free PMC article.
MAP1B related syndrome: Case presentation and review of literature.
Julca DM, Diaz J, Berger S, Leon E. Julca DM, et al. Am J Med Genet A. 2019 Sep;179(9):1703-1708. doi: 10.1002/ajmg.a.61280. Epub 2019 Jul 17. Am J Med Genet A. 2019. PMID: 31317654
We describe a child presenting with global developmental delays, ID, microcephaly, short stature, seizures, dysmorphic features, and prenatal alcohol exposure with a de novo nonsense MAP1B mutation (c.2035G>T, p.Glu679X) detected on whole exome sequencing (WES). ...
We describe a child presenting with global developmental delays, ID, microcephaly, short stature, seizures, dysmorphic features, and prenata …
Metabolic Syndrome Features and Excess Weight Were Inversely Associated with Nut Consumption after 1-Year Follow-Up in the PREDIMED-Plus Study.
Julibert A, Del Mar Bibiloni M, Gallardo-Alfaro L, Abbate M, Martínez-González MÁ, Salas-Salvadó J, Corella D, Fitó M, Martínez JA, Alonso-Gómez ÁM, Wärnberg J, Vioque J, Romaguera D, Lopez-Miranda J, Estruch R, Tinahones FJ, Lapetra J, Serra-Majem L, Cano-Ibañez N, Martín-Sánchez V, Pintó X, Gaforio JJ, Matía-Martín P, Vidal J, Vázquez C, Daimiel L, Ros E, Sayon-Orea C, Becerra-Tomás N, Gimenez-Alba IM, Castañer O, Abete I, Tojal-Sierra L, Pérez-López J, Notario-Barandiaran L, Colom A, Garcia-Rios A, Castro-Barquero S, Bernal R, Santos-Lozano JM, Fernández-Lázaro CI, Hernández-Alonso P, Saiz C, Zomeño MD, Zulet MA, Belló-Mora MC, Basterra-Gortari J, Canudas S, Goday A, Tur JA; PREDIMED-PLUS investigators. Julibert A, et al. J Nutr. 2020 Dec 10;150(12):3161-3170. doi: 10.1093/jn/nxaa289. J Nutr. 2020. PMID: 33300039 Free article. Clinical Trial.
Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations.
Grand K, Gonzalez-Gandolfi C, Ackermann AM, Aljeaid D, Bedoukian E, Bird LM, De Leon DD, Diaz J, Hopkin RJ, Kadakia SP, Keena B, Klein KO, Krantz I, Leon E, Lord K, McDougall C, Medne L, Skraban CM, Stanley CA, Tarpinian J, Zackai E, Deardorff MA, Kalish JM. Grand K, et al. Am J Med Genet A. 2019 Apr;179(4):542-551. doi: 10.1002/ajmg.a.61062. Epub 2019 Feb 4. Am J Med Genet A. 2019. PMID: 30719864 Free PMC article.
Extending the phenotypic spectrum of Bohring-Opitz syndrome: Mild case confirmed by functional studies.
Leon E, Diaz J, Castilla-Vallmanya L, Grinberg D, Balcells S, Urreizti R. Leon E, et al. Am J Med Genet A. 2020 Jan;182(1):201-204. doi: 10.1002/ajmg.a.61397. Epub 2019 Nov 6. Am J Med Genet A. 2020. PMID: 31692235
Clinical diagnostic criteria were established in 2011 and include microcephaly, trigonocephaly, distinctive craniofacial dysmorphic features, facial nevus flammeus, failure to thrive, and severe developmental delays. The same year, different de novo heterozygous nonsense m …
Clinical diagnostic criteria were established in 2011 and include microcephaly, trigonocephaly, distinctive craniofacial dysmorphic features …
Corticosteroid treatment in critically ill patients with severe influenza pneumonia: a propensity score matching study.
Moreno G, Rodríguez A, Reyes LF, Gomez J, Sole-Violan J, Díaz E, Bodí M, Trefler S, Guardiola J, Yébenes JC, Soriano A, Garnacho-Montero J, Socias L, Del Valle Ortíz M, Correig E, Marín-Corral J, Vallverdú-Vidal M, Restrepo MI, Torres A, Martín-Loeches I; GETGAG Study Group. Moreno G, et al. Intensive Care Med. 2018 Sep;44(9):1470-1482. doi: 10.1007/s00134-018-5332-4. Epub 2018 Aug 3. Intensive Care Med. 2018. PMID: 30074052 Free PMC article.
13 results