Below are the most recent publications written about "Dwarfism" by people in Profiles.
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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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Matalon DR, Stevenson DA, Bhoj EJ, Santani AB, Keena B, Cohen MS, Lin AE, Sheppard SE, Zackai EH. Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies. Am J Med Genet A. 2021 05; 185(5):1486-1493.
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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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Melbouci M, Mason RW, Suzuki Y, Fukao T, Orii T, Tomatsu S. Growth impairment in mucopolysaccharidoses. Mol Genet Metab. 2018 05; 124(1):1-10.
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Farach LS, Little ME, Duker AL, Logan CV, Jackson A, Hecht JT, Bober M. The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome. Am J Med Genet A. 2018 02; 176(2):465-469.