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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2005 1
2011 3
2013 2
2014 2
2015 3
2016 3
2017 1
2018 5
2019 7
2020 2
2021 12
2022 3
2023 2
2024 0

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41 results

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Page 1
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.
Kumble S, Levy AM, Punetha J, Gao H, Ah Mew N, Anyane-Yeboa K, Benke PJ, Berger SM, Bjerglund L, Campos-Xavier B, Ciliberto M, Cohen JS, Comi AM, Curry C, Damaj L, Denommé-Pichon AS, Emrick L, Faivre L, Fasano MB, Fiévet A, Finkel RS, García-Miñaúr S, Gerard A, Gomez-Puertas P, Guillen Sacoto MJ, Hoffman TL, Howard L, Iglesias AD, Izumi K, Larson A, Leiber A, Lozano R, Marcos-Alcalde I, Mintz CS, Mullegama SV, Møller RS, Odent S, Oppermann H, Ostergaard E, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Paulson AM, Platzer K, Posey JE, Potocki L, Revah-Politi A, Rio M, Ritter AL, Robinson S, Rosenfeld JA, Santos-Simarro F, Sousa SB; Undiagnosed Diseases Network; Wéber M, Xie Y, Chung WK, Brown NJ, Tümer Z. Kumble S, et al. Among authors: campos xavier b. Hum Mutat. 2022 Feb;43(2):266-282. doi: 10.1002/humu.24308. Epub 2021 Dec 11. Hum Mutat. 2022. PMID: 34859529 Free article.
Progressive pseudorheumatoid dysplasia: a rare childhood disease.
Torreggiani S, Torcoletti M, Campos-Xavier B, Baldo F, Agostoni C, Superti-Furga A, Filocamo G. Torreggiani S, et al. Among authors: campos xavier b. Rheumatol Int. 2019 Mar;39(3):441-452. doi: 10.1007/s00296-018-4170-6. Epub 2018 Oct 16. Rheumatol Int. 2019. PMID: 30327864 Review.
New Dominant-Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130-Dependent Hyper-IgE Syndrome.
Arlabosse T, Materna M, Riccio O, Schnider C, Angelini F, Perreau M, Rochat I, Superti-Furga A, Campos-Xavier B, Héritier S, Pereira A, Deswarte C, Lévy R, Distefano M, Bustamante J, Roelens M, Borie R, Le Brun M, Crestani B, Casanova JL, Puel A, Hofer M, Fieschi C, Theodoropoulou K, Béziat V, Candotti F. Arlabosse T, et al. Among authors: campos xavier b. J Clin Immunol. 2023 Oct;43(7):1566-1580. doi: 10.1007/s10875-023-01517-4. Epub 2023 Jun 5. J Clin Immunol. 2023. PMID: 37273120 Free PMC article.
Classical homocystinuria, is it safe to exercise?
Tankeu AT, Van Winckel G, Campos-Xavier B, Braissant O, Pedro R, Superti-Furga A, Amati F, Tran C. Tankeu AT, et al. Among authors: campos xavier b. Mol Genet Metab Rep. 2021 Mar 26;27:100746. doi: 10.1016/j.ymgmr.2021.100746. eCollection 2021 Jun. Mol Genet Metab Rep. 2021. PMID: 33868930 Free PMC article.
Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features.
Rosato S, Unger S, Campos-Xavier B, Caraffi SG, Beltrami L, Pollazzon M, Ivanovski I, Castori M, Bonasoni MP, Comitini G, Nikkels PGJ, Lindstrom K, Umandap C, Superti-Furga A, Garavelli L. Rosato S, et al. Among authors: campos xavier b. Genes (Basel). 2022 Jan 28;13(2):261. doi: 10.3390/genes13020261. Genes (Basel). 2022. PMID: 35205306 Free PMC article. Review.
Elevated lactate in Mauriac syndrome: still a mystery.
Touilloux B, Lu H, Campos-Xavier B, Superti-Furga A, Hauschild M, Bouthors T, Tran C. Touilloux B, et al. Among authors: campos xavier b. BMC Endocr Disord. 2021 Aug 21;21(1):172. doi: 10.1186/s12902-021-00835-1. BMC Endocr Disord. 2021. PMID: 34419042 Free PMC article.
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator.
Allou L, Balzano S, Magg A, Quinodoz M, Royer-Bertrand B, Schöpflin R, Chan WL, Speck-Martins CE, Carvalho DR, Farage L, Lourenço CM, Albuquerque R, Rajagopal S, Nampoothiri S, Campos-Xavier B, Chiesa C, Niel-Bütschi F, Wittler L, Timmermann B, Spielmann M, Robson MI, Ringel A, Heinrich V, Cova G, Andrey G, Prada-Medina CA, Pescini-Gobert R, Unger S, Bonafé L, Grote P, Rivolta C, Mundlos S, Superti-Furga A. Allou L, et al. Among authors: campos xavier b. Nature. 2021 Apr;592(7852):93-98. doi: 10.1038/s41586-021-03208-9. Epub 2021 Feb 10. Nature. 2021. PMID: 33568816
A monoallelic SEC23A variant E599K associated with cranio-lenticulo-sutural dysplasia.
Cisarova K, Garavelli L, Caraffi SG, Peluso F, Valeri L, Gargano G, Gavioli S, Trimarchi G, Neri A, Campos-Xavier B, Superti-Furga A. Cisarova K, et al. Among authors: campos xavier b. Am J Med Genet A. 2022 Jan;188(1):319-325. doi: 10.1002/ajmg.a.62506. Epub 2021 Sep 28. Am J Med Genet A. 2022. PMID: 34580982 Free PMC article.
Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.
Pollazzon M, Caraffi SG, Faccioli S, Rosato S, Fodstad H, Campos-Xavier B, Soncini E, Comitini G, Frattini D, Grimaldi T, Marinelli M, Martorana D, Percesepe A, Sassi S, Fusco C, Gargano G, Superti-Furga A, Garavelli L. Pollazzon M, et al. Among authors: campos xavier b. Genes (Basel). 2021 Dec 23;13(1):29. doi: 10.3390/genes13010029. Genes (Basel). 2021. PMID: 35052370 Free PMC article.
41 results