Results 141 to 150 of about 406,691 (285)

Skeletal Dysplasia (Thanatophoric Dysplasia)

Pediatric Oncall, 2012
Siva Saranappa S B, Madhu G N, Lakshmi V
openaire   +1 more source

A novel deep intronic EIF2AK3 variant disrupts splicing and causes Wolcott–Rallison syndrome

Diabetic Medicine, EarlyView.
Abstract Aim Deep intronic variants can disrupt splicing and cause monogenic disease but are missed by routine genetic testing. This study assessed the contribution of deep intronic variants to Wolcott–Rallison syndrome (WRS), a recessive disorder characterized by early‐onset diabetes and progressive multisystem disease caused by loss‐of‐function ...
Alaa Al Assi, Georgia Bonfield, James Russ‐Silsby, Suhel Ahmed, Thomas W. Laver, Kadri Karaer, Bayram Özhan, Ayca Altincik, Kashyap A. Patel, Jayne A. L. Houghton, Sarah E. Flanagan, Matthew B. Johnson, Elisa De Franco   +12 more
wiley   +1 more source

A homozygous lamin B receptor variant resulting in Pelger-Huët anomaly without skeletal dysplasia. [PDF]

Nucleus
Hoffmann K, Vayá A, Ricart Vayá JM, Küchler O, Schmidt A, von Kügelgen N, Fischer-Zirnsak B, Sperling K.   +7 more
europepmc   +1 more source

Type-i Thanatophoric Dysplasia: Unraveling A Lethal Skeletal Disorder

, 2015
Type-I Thanatophoric Dysplasia is an uncommon and severe skeletal disorder characterized by abnormal bone development, leading to a lethal outcome shortly after birth.
Hariprasad, A. (A)
core  

Eosinophilia and Hypereosinophilia: A Practical Approach to Navigating a Broad Differential Diagnosis

European Journal of Haematology, EarlyView.
ABSTRACT Eosinophilia, defined as an absolute eosinophil count (AEC) of ≥ 0.5 × 109/L, is a frequently encountered finding with a vast spectrum of potential underlying etiologies. Hypereosinophilia (HE) is defined as AEC > 1.5 × 109/L and may become life‐threatening when eosinophil‐induced organ damage occurs, defining the hypereosinophilic syndrome ...
Stijn Wigerinck, Peter Vandenberghe
wiley   +1 more source

Clinical and genetic profiles of postnatal patients with skeletal dysplasia in Guangxi during 8 years: a single-center experience. [PDF]

Orphanet J Rare Dis
Yi S, Yang Q, Wang L, Zhou X, Zhang S, Qian J, Yi S, Huang J, Chen J, Zhang Q, Chen F, Li J, Wei S, Zhang X, Zhang Q, Pan P, Qin Z, Luo J.   +17 more
europepmc   +1 more source

Sclerostin regulates bone morphogenetic protein (BMP) bioavailability through interactions with BMP complexes and fibrillin microfibrils

The FEBS Journal, EarlyView.
Sclerostin (SOST) is a multifunctional extracellular modulator of BMP and Wnt signaling. SOST binds with high affinity to fibrillin‐1 and fibrillin‐2, localizing it to fibrillin microfibrils and regulating its extracellular bioavailability. Fibrillin‐bound SOST cannot engage BMP‐7 prodomain (PD) complexes, revealing a competitive mechanism that ...
Annkatrin Correns, Fady Marcous, Steffen Lütke, Matthias Mörgelin, Philipp Barnowski, Ariane G. Furlan, Nathalie H. Schröder, Bodo Levkau, Sarah Riek, Martin Mollenhauer, Manuel Koch, Gerhard Sengle   +11 more
wiley   +1 more source

Histopathology of skeletal dysplasia in a Japanese Black calf with marked epiphyseal enlargement. [PDF]

J Vet Med Sci
Nakamura T, Iwata A, Ikezawa M, Tsuji R, Takamura Y, Inagaki K, Masuda T, Hishikawa S, Sunden Y.   +8 more
europepmc   +1 more source

ICSH Guidance on Bone Marrow Examination and Reporting

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Examination of the bone marrow (BM) remains fundamental to the diagnosis, classification, prognostication, and monitoring of hematolymphoid and other disorders affecting blood cell production. Since publication of the International Council for Standardization in Haematology (ICSH) guideline in 2008, advances in diagnostic technologies, disease
Wendy N. Erber, Alexandar Tzankov, Olga Pozdnyakova, Hiromichi Matsushita, Gina Zini, Leonie Saft, on behalf of the International Council for Standardization in Haematology   +6 more
wiley   +1 more source

Delayed diagnosis of skeletal dysplasia in a girl with cartilage-hair hypoplasia. [PDF]

JCEM Case Rep
Loid P, Kotanidou EP, Tsinopoulou VR, Galli-Tsinopoulou A, Mäkitie O.   +4 more
europepmc   +1 more source