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Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
Wojcik MH, Srivastava S, Agrawal PB, Balci TB, Callewaert B, Calvo PL, Carli D, Caudle M, Colaiacovo S, Cross L, Demetriou K, Drazba K, Dutra-Clarke M, Edwards M, Genetti CA, Grange DK, Hickey SE, Isidor B, Küry S, Lachman HM, Lavillaureix A, Lyons MJ, Marcelis C, Marco EJ, Martinez-Agosto JA, Nowak C, Pizzol A, Planes M, Prijoles EJ, Riberi E, Rush ET, Russell BE, Sachdev R, Schmalz B, Shears D, Stevenson DA, Wilson K, Jansen S, de Vries BBA, Curry CJ. Wojcik MH, et al. Am J Med Genet A. 2023 Jul;191(7):1900-1910. doi: 10.1002/ajmg.a.63226. Epub 2023 May 14. Am J Med Genet A. 2023. PMID: 37183572
Wilms Tumor (Nephroblastoma), Version 2.2021, NCCN Clinical Practice Guidelines in Oncology.
Balis F, Green DM, Anderson C, Cook S, Dhillon J, Gow K, Hiniker S, Jasty-Rao R, Lin C, Lovvorn H, MacEwan I, Martinez-Agosto J, Mullen E, Murphy ES, Ranalli M, Rhee D, Rokitka D, Tracy EL, Vern-Gross T, Walsh MF, Walz A, Wickiser J, Zapala M, Berardi RA, Hughes M. Balis F, et al. J Natl Compr Canc Netw. 2021 Aug 1;19(8):945-977. doi: 10.6004/jnccn.2021.0037. J Natl Compr Canc Netw. 2021. PMID: 34416707
The Role of Genetic Testing Among Autistic Individuals.
Shafqat I, Rosenau KA, Martinez-Agosto JA. Shafqat I, et al. Pediatrics. 2022 Apr 1;149(Suppl 4):e2020049437L. doi: 10.1542/peds.2020-049437L. Pediatrics. 2022. PMID: 35363284 No abstract available.
Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy.
Bhatia A, Mobley BC, Cogan J, Koziura ME, Brokamp E, Phillips J, Newman J; Undiagnosed Diseases Network (UDN); Moore SA, Hamid R; Members of the Undiagnosed Diseases Network. Bhatia A, et al. Clin Imaging. 2019 Nov-Dec;58:108-113. doi: 10.1016/j.clinimag.2019.06.010. Epub 2019 Jun 21. Clin Imaging. 2019. PMID: 31299614 Free PMC article.
The Autism Intervention Research Network on Physical Health (AIR-P) Research Agenda.
Kuo AA, Hotez E, Rosenau KA, Gragnani C, Fernandes P, Haley M; AIR-P NATIONAL COORDINATING CENTER; Rudolph D, Croen LA, Massolo ML, Holmes LG, Shattuck P, Shea L, Wilson R, Martinez-Agosto JA, Brown HM, Dwyer PSR, Gassner DL, Onaiwu MG, Kapp SK, Ne'eman A, Ryan JG, Waisman TC, Williams ZJ; AUTISTIC RESEARCHER REVIEW BOARD; DiBari JN, Foney DM, Ramos LR, Kogan MD. Kuo AA, et al. Pediatrics. 2022 Apr 1;149(Suppl 4):e2020049437D. doi: 10.1542/peds.2020-049437D. Pediatrics. 2022. PMID: 35363290
IgG4-related disease: Association with a rare gene variant expressed in cytotoxic T cells.
Newman JH, Shaver A, Sheehan JH, Mallal S, Stone JH, Pillai S, Bastarache L, Riebau D, Allard-Chamard H, Stone WM, Perugino C, Pilkinton M, Smith SA, McDonnell WJ, Capra JA, Meiler J, Cogan J, Xing K, Mahajan VS, Mattoo H, Hamid R, Phillips JA 3rd; Undiagnosed Disease Network. Newman JH, et al. Mol Genet Genomic Med. 2019 Jun;7(6):e686. doi: 10.1002/mgg3.686. Epub 2019 Apr 16. Mol Genet Genomic Med. 2019. PMID: 30993913 Free PMC article.
170 results