Below are the most recent publications written about "Dwarfism" by people in Profiles.
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Paganini C, Carroll RS, Gramegna Tota C, Schelhaas AJ, Leone A, Duker AL, O'Connell DA, Coghlan RF, Johnstone B, Ferreira CR, Peressini S, Albertini R, Forlino A, Bonaf? L, Campos-Xavier AB, Superti-Furga A, Zankl A, Rossi A, Bober MB. Identification of potential non-invasive biomarkers in diastrophic dysplasia. Bone. 2023 10; 175:116838.
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Sirohi N, Duker AL, Bober MB, DeFelice ML. Immune Deficiency in Microcephalic Osteodysplastic Primordial Dwarfism Type I/III. J Clin Immunol. 2023 07; 43(5):895-897.
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Danowitz M, Grimberg A. Clinical Indications for Growth Hormone Therapy. Adv Pediatr. 2022 08; 69(1):203-217.
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Duker AL, Kinderman D, Jordan C, Niiler T, Baker-Smith CM, Thompson L, Parry DA, Carroll RS, Bober MB. Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease. Orphanet J Rare Dis. 2021 05 20; 16(1):231.
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Ferreira CR, Niiler T, Duker AL, Jackson AP, Bober MB. Growth in individuals with Saul-Wilson syndrome. Am J Med Genet A. 2020 09; 182(9):2110-2116.
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Ferreira CR, Zein WM, Huryn LA, Merker A, Berger SI, Wilson WG, Tiller GE, Wolfe LA, Merideth M, Carvalho DR, Duker AL, Bratke H, Haug MG, Rohena L, Hove HB, Xia ZJ, Ng BG, Freeze HH, Gabriel M, Russi AHS, Brick L, Kozenko M, Earl DL, Tham E, Nishimura G, Phillips JA, Gahl WA, Hamid R, Jackson AP, Grigelioniene G, Bober MB. Defining the clinical phenotype of Saul-Wilson syndrome. Genet Med. 2020 05; 22(5):857-866.
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Hoover-Fong J, Alade AY, Ain M, Berkowitz I, Bober M, Carter E, Hecht J, Hoerschemeyer D, Krakow D, MacCarrick G, Mackenzie WG, Mendoza R, Okenfuss E, Popplewell D, Raggio C, Schulze K, McGready J. Blood pressure in adults with short stature skeletal dysplasias. Am J Med Genet A. 2020 01; 182(1):150-161.
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Tarnauskaite ?, Bicknell LS, Marsh JA, Murray JE, Parry DA, Logan CV, Bober MB, de Silva DC, Duker AL, Sillence D, Wise C, Jackson AP, Murina O, Reijns MAM. Biallelic variants in DNA2 cause microcephalic primordial dwarfism. Hum Mutat. 2019 08; 40(8):1063-1070.
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Cologne A, Benoit-Pilven C, Besson A, Putoux A, Campan-Fournier A, Bober MB, De Die-Smulders CEM, Paulussen ADC, Pinson L, Toutain A, Roifman CM, Leutenegger AL, Mazoyer S, Edery P, Lacroix V. New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients. RNA. 2019 09; 25(9):1130-1149.
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Bauer JM, Ditro CP, Mackenzie WG. The Management of Kyphosis in Metatropic Dysplasia. Spine Deform. 2019 05; 7(3):494-500.