PMC Links for OMIM (Select 260400) - PMC

Select item 67153621.

TGF-β signaling underlies hematopoietic dysfunction and bone marrow failure in Shwachman-Diamond syndrome

Cailin E. Joyce, Assieh Saadatpour, Melisa Ruiz-Gutierrez, Ozge Vargel Bolukbasi, Lan Jiang, Dolly D. Thomas, Sarah Young, Inga Hofmann, Colin A. Sieff, Kasiani C. Myers, Jennifer Whangbo, Towia A. Libermann, Chad Nusbaum, Guo-Cheng Yuan, Akiko Shimamura, Carl D. Novina

J Clin Invest. 2019 Sep 3; 129(9): 3821–3826. Published online 2019 Aug 12. doi: 10.1172/JCI125375

PMCID:: PMC6715362

Article PDF–2.4M

Select item 22631452.

Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome

Karyn M. Austin, Mohan L. Gupta, Jr., Scott A. Coats, Asmin Tulpule, Gustavo Mostoslavsky, Alejandro B. Balazs, Richard C. Mulligan, George Daley, David Pellman, Akiko Shimamura

J Clin Invest. 2008 Apr 1; 118(4): 1511–1518. Published online 2008 Mar 6. doi: 10.1172/JCI33764

PMCID:: PMC2263145

Article PDF–993K

Select item 20197173.

Association of pancreatic insufficiency and chronic neutropenia in childhood.

V. Burke, J. H. Colebatch, C. M. Anderson, M. J. Simons

Arch Dis Child. 1967 Apr; 42(222): 147–157. doi: 10.1136/adc.42.222.147

PMCID:: PMC2019717

Summary Page Browse PDF–1.9M

Select item 19024544.

Syndrome of pancreatic insufficiency, blood dyscrasia and metaphyseal dysplasia.

E. M. Pringle, W. F. Young, E. M. Haworth

Proc R Soc Med. 1968 Aug; 61(8): 776–777.

PMCID:: PMC1902454

Summary Page Browse PDF–512K

Select item 17062515.

A simple method of estimating the segregation ratio under complete ascertainment.

C C Li, N Mantel

Am J Hum Genet. 1968 Jan; 20(1): 61–81.

PMCID:: PMC1706251

Summary Page Browse PDF–2.0M

Select item 15462536.

Metaphyseal chondrodysplasia, neutropenia, and pancreatic insufficiency presenting with respiratory distress in the neonatal period.

D M Danks, R Haslam, V Mayne, H J Kaufmann, P G Holtzapple

Arch Dis Child. 1976 Sep; 51(9): 697–702. doi: 10.1136/adc.51.9.697

PMCID:: PMC1546253

Summary Page Browse PDF–1.9M

Select item 12882067.

Segregation Analysis in Shwachman-Diamond Syndrome: Evidence for Recessive Inheritance

H. Ginzberg, J. Shin, L. Ellis, S. Goobie, J. Morrison, M. Corey, P. R. Durie, J. M. Rommens

Am J Hum Genet. 2000 Apr; 66(4): 1413–1416. Published online 2000 Mar 14. doi: 10.1086/302856

PMCID:: PMC1288206

Article PDF–129K

Select item 12756248.

Shwachman-Diamond Syndrome with Exocrine Pancreatic Dysfunction and Bone Marrow Failure Maps to the Centromeric Region of Chromosome 7

Sharan Goobie, Maja Popovic, Jodi Morrison, Lynda Ellis, Hedy Ginzberg, Graeme R. B. Boocock, Nadia Ehtesham, Christine Bétard, Carl G. Brewer, Nicole M. Roslin, Thomas J. Hudson, Kenneth Morgan, T. Mary Fujiwara, Peter R. Durie, Johanna M. Rommens

Am J Hum Genet. 2001 Apr; 68(4): 1048–1054. Published online 2001 Mar 15. doi: 10.1086/319505

PMCID:: PMC1275624

Article PDF–186K

Select item 10517449.

Shwachman syndrome associated with de novo reciprocal translocation t(6;12)(q16.2;q21.2).

M Masuno, K Imaizumi, G Nishimura, M Nakamura, I Saito, K Akagi, Y Kuroki

J Med Genet. 1995 Nov; 32(11): 894–895. doi: 10.1136/jmg.32.11.894

PMCID:: PMC1051744

Summary Page Browse PDF–418K

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