shwachman syndrome
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Dysplasias with Predominant Metaphyseal Involvement

2018 ◽  
pp. 33-64
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Christine Hall ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
...  
Keyword(s):  
Clinical Findings ◽  
Differential Diagnoses ◽  
Radiographic Features ◽  
Metaphyseal Dysplasia ◽  
Metaphyseal Chondrodysplasia ◽  
Cartilage Hair Hypoplasia ◽  
Shwachman Syndrome

This chapter discusses metaphyseal eysplasias and explores metaphyseal chondrodysplasia (Schmid type), cartilage-hair hypoplasia, metaphyseal dysplasia (Spahr type), metaphyseal anadysplasia, Shwachman syndrome, metaphyseal chondrodysplasia (Jansen type), Eiken dysplasia, and chronic infantile neurologic cutaneous and articular syndrome (CINCA). Each discussion includes major clinical findings, major radiographic features, genetics, major differential diagnoses, and a bibliography.

Shwachman Syndrome (Mim 260400)

2012 ◽  
pp. 25-26
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger
Keyword(s):  
Clinical Findings ◽  
Differential Diagnoses ◽  
Laboratory Findings ◽  
Radiographic Features ◽  
Shwachman Syndrome

Chapter 5 covers Shwachman Syndrom (MIM 260400), including major clinical findings, laboratory findings, radiographic features, and differential diagnoses.

Shwachman syndrome

2011 ◽  
Keyword(s):  
Shwachman Syndrome

scholarly journals The isochromosome i(7)(q10) carrying c.258+2t>c mutation of the SBDS gene does not promote development of myeloid malignancies in patients with Shwachman syndrome

Leukemia ◽  
2009 ◽  
Vol 23 (4) ◽  
pp. 708-711 ◽  
Author(s):  
A Minelli ◽  
E Maserati ◽  
E Nicolis ◽  
M Zecca ◽  
L Sainati ◽  
...  
Keyword(s):  
Myeloid Malignancies ◽  
Shwachman Syndrome

Monitoring the Isochromosome i(7)(q10) in the Bone Marrow of Patients With Shwachman Syndrome by Real-time Quantitative PCR

2007 ◽  
Vol 29 (3) ◽  
pp. 163-165 ◽  
Author(s):  
Giovanni Porta ◽  
Elia Mattarucchi ◽  
Emanuela Maserati ◽  
Barbara Pressato ◽  
Roberto Valli ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Real Time ◽  
Quantitative Pcr ◽  
Real Time Quantitative Pcr ◽  
Shwachman Syndrome

Shwachman syndrome

2006 ◽  
pp. 799-799
Keyword(s):  
Shwachman Syndrome

Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies

2005 ◽  
Vol 45 (4) ◽  
pp. 375-382 ◽  
Author(s):  
Emanuela Maserati ◽  
Antonella Minelli ◽  
Barbara Pressato ◽  
Roberto Valli ◽  
Barbara Crescenzi ◽  
...  
Keyword(s):  
Mutator Phenotype ◽  
Karyotype Instability ◽  
Shwachman Syndrome

P0818 SHWACHMAN SYNDROME AND BONE MARROW TRANSPLANTATION

2004 ◽  
Vol 39 (Supplement 1) ◽  
pp. S368
Author(s):  
M. Larchet ◽  
L. Bourrigan ◽  
M. Peter ◽  
J. Sarles ◽  
J. Schmitz ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Transplantation ◽  
Marrow Transplantation ◽  
Shwachman Syndrome

scholarly journals Treatment of Shwachman Syndrome by Japanese Herbal Medicine (Juzen-Taiho-To): Stimulatory Effects of Its Fatty Acids on Hemopoiesis in Patients

Stem Cells ◽  
2002 ◽  
Vol 20 (4) ◽  
pp. 311-319 ◽  
Author(s):  
Hiroko Hisha ◽  
Urara Kohdera ◽  
Masahiro Hirayama ◽  
Haruki Yamada ◽  
Tomoko Iguchi-Uehira ◽  
...  
Keyword(s):  
Fatty Acids ◽  
Herbal Medicine ◽  
Japanese Herbal Medicine ◽  
Shwachman Syndrome
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