Combined de-novo mutation and non-random X-chromosome inactivation causing Wiskott-Aldrich syndrome in a female with thrombocytopenia. (Q33409768)

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7 March 2020

title

Combined de-novo mutation and non-random X-chromosome inactivation causing Wiskott-Aldrich syndrome in a female with thrombocytopenia (English)

1 reference

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7 March 2020

main subject

Wiskott-Aldrich syndrome

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1 reference

8

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7 March 2020

Stephen W. Scherer

10

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15

Hans D Ochs

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Yigal Dror

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9

Victor Blanchette

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14

Troy R Torgerson

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13

Qili Zhu

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7 March 2020

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author name string

Boonchai Boonyawat

1

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7 March 2020

Santhosh Dhanraj

2

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7 March 2020

Fahad Al Abbas

3

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7 March 2020

Bozana Zlateska

4

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7 March 2020

Eyal Grunenbaum

5

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7 March 2020

Chaim M Roifman

6

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Leslie Steele

7

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Sabina Swierczek

11

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7 March 2020

Josef Prchal

12

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publication date

14 August 2013

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Journal of Clinical Immunology

7 March 2020

published in

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7 March 2020

volume

33

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issue

7

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page(s)

1150-1155

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Wiskott-Aldrich syndrome: diagnosis, clinical and laboratory manifestations, and treatment

7 March 2020

cites work

1 reference

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Isolation of a novel gene mutated in Wiskott-Aldrich syndrome

21 January 2018

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Wiskott-Aldrich syndrome protein, a novel effector for the GTPase CDC42Hs, is implicated in actin polymerization

21 January 2018

1 reference

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The Wiskott-Aldrich syndrome protein (WASP): roles in signaling and cytoskeletal organization

21 January 2018

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X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene

21 January 2018

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Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation

21 January 2018

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Hematopoiesis is not clonal in healthy elderly women.

21 January 2018

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Polycythemia vera is not initiated by JAK2V617F mutation.

21 January 2018

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Global variation in copy number in the human genome

21 January 2018

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Bone marrow transplantation for severe combined immune deficiency

21 January 2018

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Mutations of the Wiskott-Aldrich Syndrome Protein affect protein expression and dictate the clinical phenotypes

21 January 2018

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A multiinstitutional survey of the Wiskott-Aldrich syndrome.

21 January 2018

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Early deficit of lymphocytes in Wiskott-Aldrich syndrome: possible role of WASP in human lymphocyte maturation

21 January 2018

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Analysis of T-cell repertoire diversity in Wiskott-Aldrich syndrome

21 January 2018

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Gene action in the X-chromosome of the mouse (Mus musculus L.)

21 January 2018

1 reference

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A defect in hematopoietic stem cell migration explains the nonrandom X-chromosome inactivation in carriers of Wiskott-Aldrich syndrome

21 January 2018

1 reference

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Wiskott-Aldrich syndrome in a female with skewed X-chromosome inactivation

21 January 2018

1 reference

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A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP

21 January 2018

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Functional disomy of Xp: prenatal findings and postnatal outcome

21 January 2018

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Nonrandom inactivation of the X chromosome in early lineage hematopoietic cells in carriers of Wiskott-Aldrich syndrome

21 January 2018

1 reference

12 December 2020

Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea.

1 reference

12 December 2020

Detection of lymphocytes and granulocytes expressing the mutant WASP message in carriers of Wiskott-Aldrich syndrome

1 reference

12 December 2020

The Wiskott-Aldrich syndrome: studies of lymphocytes, granulocytes, and platelets

1 reference

12 December 2020

The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene

1 reference

12 December 2020

X-linked Wiskott-Aldrich syndrome in a girl

1 reference

12 December 2020

Wiskott-Aldrich syndrome

1 reference

12 December 2020

Defects in Wiskott-Aldrich syndrome blood cells

1 reference

12 December 2020

Malignant myeloid transformation with isochromosome 7q in Shwachman-Diamond syndrome

1 reference

12 December 2020