Results 141 to 150 of about 2,254,317 (172)

Enhanced p53 Levels Are Involved in the Reduced Mineralization Capacity of Osteoblasts Derived from Shwachman-Diamond Syndrome Subjects. [PDF]

Int J Mol Sci, 2021
Frattini A, Bolamperti S, Valli R, Cipolli M, Pinto RM, Bergami E, Frau MR, Cesaro S, Signo M, Bezzerri V, Porta G, Khan AW, Rubinacci A, Villa I.   +13 more
europepmc   +1 more source

Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman-Diamond Syndrome. [PDF]

Front Genet, 2022
Taha I, Foroni S, Valli R, Frattini A, Roccia P, Porta G, Zecca M, Bergami E, Cipolli M, Pasquali F, Danesino C, Scotti C, Minelli A.   +12 more
europepmc   +1 more source

Editorial: Current Challenges in Immune and Other Acquired Cytopenias of Childhood [PDF]

, 2016
Markus G. Seidel, Sujal Ghosh
core   +1 more source

From Challenge to Opportunity: How Shwachman-Diamond Syndrome Became a Promising Target for Therapy Development. [PDF]

Clin Pharmacol Ther
Hars ES, McReynolds LJ.
europepmc   +1 more source

Characteristics of Craniofacial Morphology and Occlusion in Shwachman-Diamond Syndrome: A Case Report of a Japanese Sibling Pair. [PDF]

Cureus
Takahashi M, Ariwa M, Yamaguchi T.
europepmc   +1 more source

Clinical and genetic characteristics of Chinese patients with Shwachman Diamond syndrome: a literature review of Chinese publication. [PDF]

Exp Biol Med (Maywood)
Wang L, Jin Y, Chen Y, Zhao P, Shang X, Liu H, Sun L.   +6 more
europepmc   +1 more source

Clonal chromosome anomalies and propensity to myeloid malignancies in congenital amegakaryocytic thrombocytopenia (OMIM 604498) [PDF]

, 2008
Balduini C.L., Cugno C., Di Cesare-Merlone A., Dufour C., Lo Curto F., Locatelli F., Maserati E., Morerio C., Panarello C., Pasquali F., Patitucci F., Pressato B., Tassano E., Valli R.   +13 more
core   +1 more source

Hematopoietic Stem Cell Transplantation for Shwachman-Diamond Syndrome. [PDF]

Biol Blood Marrow Transplant, 2020
Myers K, Hebert K, Antin J, Boulad F, Burroughs L, Hofmann I, Kamble R, MacMillan ML, Eapen M.   +8 more
europepmc   +1 more source

Retraction: Shwachman-Diamond Syndrome in a Child Presenting With Chronic Diarrhea: A Rare Case in Family Medicine Practice. [PDF]

Cureus
Alshammari M, Aljohani MA, Hashash JM, Alsaedi HA, Alobaidi WY, Alhuzali NK, Alnumani MS, Alrashidi AH, Al-Battniji SA, Alotaibi NA, Alhumaidi NK, Alajaimi AN, Alqurashi RS, Albishri AT, Alshammari KH.   +14 more
europepmc   +1 more source

Shwachman-Diamond Syndrome in a Child Presenting With Chronic Diarrhea: A Rare Case in Family Medicine Practice.

Cureus, 2021
Alshammari M, Aljohani MA, Hashash JM, Alsaedi HA, Alobaidi WY, Alhuzali NK, Alnumani MS, Alrashidi AH, Al-Battniji SA, Alotaibi NA, Alhumaidi NK, Alajaimi AN, Alqurashi RS, Albishri AT, Alshammari KH.   +14 more
europepmc   +1 more source