A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family. [electronic resource]

By:

Khayat, Morad

Contributor(s):

Tilghman, Joseph Mark
Chervinsky, Ilana
Zalman, Lucia
Chakravarti, Aravinda
Shalev, Stavit A

Producer: 20161019Description: 176-82 p. digitalISSN:

1552-4833

Subject(s):

Abnormalities, Multiple -- genetics
Arabs -- genetics
Base Sequence
CD24 Antigen -- biosynthesis
Child
Developmental Disabilities -- genetics
Exome -- genetics
Female
Glycosylphosphatidylinositols -- biosynthesis
Humans
Israel
Muscle Hypotonia -- genetics
Mutation -- genetics
Pedigree
Phosphotransferases -- genetics
Seizures -- genetics
Sequence Analysis, DNA

Online resources:

Available from publisher's website

In: American journal of medical genetics. Part A vol. 170A

Tags from this library: No tags from this library for this title. Log in to add tags.

Star ratings

Cancel rating. Average rating: 0.0 (0 votes)

Holdings ( 0 )
Title notes ( 1 )
Comments ( 0 )

No physical items for this record

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

There are no comments on this title.

Browse results Close

Back to results

1 Platelet adhesion to the subendothelium under flow.
by de Groot, P G
2 Role of the fibrinogen gamma-chain sequence gamma316-322 in platelet-mediated clot retraction.
by Remijn, J A
3 Platelet adhesion to fibronectin in flow: dependence on surface concentration and shear rate, role of platelet membrane glycoproteins GP IIb/IIIa and VLA-5, and inhibition by heparin.
by Beumer, S
4 Quantification of fibrin deposition in flowing blood with peroxidase-labeled fibrinogen. High shear rates induce decreased fibrin deposition and appearance of fibrin monomers.
by Tijburg, P N
5 Platelet adhesion to laminin: role of Ca2+ and Mg2+ ions, shear rate, and platelet membrane glycoproteins.
by Hindriks, G
6 Platelet adhesion to fibronectin in flow: the importance of von Willebrand factor and glycoprotein Ib.
by Beumer, S
7 High von Willebrand factor concentration compensates a relative adhesion defect in uremic blood.
by Zwaginga, J J
8 The platelet adhesion capacity to subendothelial matrix and collagen in a flow model during storage of platelet concentrates for 7 days.
by Boomgaard, M N
9 Type I von Willebrand disease, subtype 'platelet low': decreased platelet adhesion can be explained by low synthesis of von Willebrand factor in endothelial cells.
by Federici, A B
10 Absence of fibrinogen in afibrinogenemia results in large but loosely packed thrombi under flow conditions.
by Remijn, J A
11 Platelet thrombus formation on collagen at high shear rates is mediated by von Willebrand factor-glycoprotein Ib interaction and inhibited by von Willebrand factor-glycoprotein IIb/IIIa interaction.
by Wu, Y P
12 Defects in platelet adhesion and aggregate formation in uremic bleeding disorder can be attributed to factors in plasma.
by Zwaginga, J J
13 Functional studies on platelet adhesion with recombinant von Willebrand factor type 2B mutants R543Q and R543W under conditions of flow.
by Lankhof, H
14 Thrombogenicity of vascular cells. Comparison between endothelial cells isolated from different sources and smooth muscle cells and fibroblasts.
by Zwaginga, J J
15 Adhesion of blood platelets is inhibited by VCL, a recombinant fragment (leucine504 to lysine728) of von Willebrand factor.
by Sixma, J J
16 Recombinant vWF type 2A mutants R834Q and R834W show a defect in mediating platelet adhesion to collagen, independent of enhanced sensitivity to a plasma protease.
by Lankhof, H
17 Treatment of uremic anemia with recombinant erythropoietin also reduces the defects in platelet adhesion and aggregation caused by uremic plasma.
by Zwaginga, J J
18 Platelet adhesion to collagen in healthy volunteers is influenced by variation of both alpha(2)beta(1) density and von Willebrand factor.
by Roest, M
19 A3 domain is essential for interaction of von Willebrand factor with collagen type III.
by Lankhof, H
20 A tripeptide mimetic of von Willebrand factor residues 981-983 enhances platelet adhesion to fibrinogen by signaling through integrin alpha(IIb)beta3.
by Litjens, P E M H

A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family.

APA

Khayat M., Tilghman J. M., Chervinsky I., Zalman L., Chakravarti A. & Shalev S. A. (20161019). A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family. : American journal of medical genetics. Part A.

Chicago

Khayat Morad, Tilghman Joseph Mark, Chervinsky Ilana, Zalman Lucia, Chakravarti Aravinda and Shalev Stavit A. 20161019. A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family. : American journal of medical genetics. Part A.

Harvard

Khayat M., Tilghman J. M., Chervinsky I., Zalman L., Chakravarti A. and Shalev S. A. (20161019). A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family. : American journal of medical genetics. Part A.

MLA

Khayat Morad, Tilghman Joseph Mark, Chervinsky Ilana, Zalman Lucia, Chakravarti Aravinda and Shalev Stavit A. A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family. : American journal of medical genetics. Part A. 20161019.

Print
Cite
Add to your cart (remove)
Save record
BIBTEX Dublin Core MARCXML MARC (non-Unicode/MARC-8) MARC (Unicode/UTF-8) MARC (Unicode/UTF-8, Standard) MODS (XML) RIS ISBD
More searches

Search for this title in:
Other Libraries (WorldCat) Other Databases (Google Scholar) Online Stores (Bookfinder.com) Open Library (openlibrary.org)

Exporting to Dublin Core...

Simple DC-RDF

OAI-DC

SRW-DC