Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias. (Q34355778)

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English	Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias.	scientific article

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4 March 2020

Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias (English)

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combined immunodeficiency

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Jennifer Gallagher

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Fabio Facchetti

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Michael P. Snyder

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Michael Snyder

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Luigi D Notarangelo

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Luigi D Notarangelo

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Kari C Nadeau

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Rui Chen

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Silvia Giliani

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Gaetana Lanzi

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Silvia Lonardi

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John Manis

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Hogune Im

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Douglas H Phanstiel

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Ghia Euskirchen

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Philippe Lacroute

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Keith Bettinger

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Daniele Moratto

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Katja Weinacht

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Eleonora Gallo

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Giovanna Mangili

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Fulvio Porta

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Lucia D Notarangelo

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Stefania Pedretti

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Waleed Al-Herz

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Wasmi Alfahdli

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Anne Marie Comeau

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Russell S Traister

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Sung-Yun Pai

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4 July 2013

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The Journal of Allergy and Clinical Immunology

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656-664.e17

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4 March 2020

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6 July 2018

Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia

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6 July 2018

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6 July 2018

Hereditary multiple intestinal atresia (HMIA) with severe combined immunodeficiency (SCID): a case report of two siblings and review of the literature on MIA, HMIA and HMIA with immunodeficiency over the last 50 years

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6 July 2018

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6 July 2018

Signatures of murine B-cell development implicate Yy1 as a regulator of the germinal center-specific program

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6 July 2018

Hereditary multiple intestinal atresias: 2 new cases and review of the literature

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Fast and accurate short read alignment with Burrows-Wheeler transform

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6 July 2018

Hereditary multiple intestinal atresia: thirty years later

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6 July 2018

Donor immune reconstitution after liver-small bowel transplantation for multiple intestinal atresia with immunodeficiency.

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6 July 2018

Atresias of the gastrointestinal tract in an inbred, previously unstudied population

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6 July 2018

The tetratricopeptide repeat: a structural motif mediating protein-protein interactions

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Graft-versus-host disease after liver and small bowel transplantation in a child

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6 July 2018

Multiple areas of intestinal atresia associated with immunodeficiency and posttransfusion graft-versus-host disease

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6 July 2018

Hereditary multiple intestinal atresia

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6 July 2018

Familial multiple-level intestinal atresias: Report of two siblings

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28 July 2018

Age-related loss of bone marrow pre-B- and immature B-lymphocytes in the autoimmune-prone flaky skin mutant mice.

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27 October 2018

Multiple gastrointestinal atresias in two consecutive siblings

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27 October 2018

Two subsets of naive T helper cells with distinct T cell receptor excision circle content in human adult peripheral blood

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27 October 2018

The peripheral lymphoid compartment is disrupted in flaky skin mice.

1 reference

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27 October 2018

Multiple hereditary gastrointestinal atresias: study of a family

1 reference

https://pubmed.ncbi.nlm.nih.gov/23830146

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Tetratricopeptide repeat domain 7 gene is mutated in flaky skin mice: a model for psoriasis, autoimmunity, and anemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/23830146

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Positional cloning of the Ttc7 gene required for normal iron homeostasis and mutated in hea and fsn anemia mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/23830146

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hyperactivation and proliferation of lymphocytes from the spleens of flaky skin (fsn) mutant mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/23830146

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of an infant with severe combined immunodeficiency by newborn screening.

1 reference

https://pubmed.ncbi.nlm.nih.gov/23830146

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The novel tetratricopeptide repeat domain 7 mutation, Ttc7fsn-Jic, with deletion of the TPR-2B repeat causes severe flaky skin phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/23830146

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial intestinal polyatresia syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/23830146

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Immune deficiency in familial duodenal atresia

1 reference

https://pubmed.ncbi.nlm.nih.gov/23830146

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Severe combined immunodeficiency syndrome associated with autosomal recessive familial multiple gastrointestinal atresias: study of a family

1 reference

https://pubmed.ncbi.nlm.nih.gov/23830146

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lymphadenopathy, elevated serum IgE levels, autoimmunity, and mast cell accumulation in flaky skin mutant mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/23830146

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A syndrome involving immunodeficiency and multiple intestinal atresias

1 reference

https://pubmed.ncbi.nlm.nih.gov/23830146

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mutant mouse with severe anemia and skin abnormalities controlled by a new allele of the flaky skin (fsn) locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/23830146

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expansion of CD22lo B cells in the spleen of autoimmune-prone flaky skin mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/23830146

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary erythroblastic anaemia in the laboratory mouse

1 reference

https://pubmed.ncbi.nlm.nih.gov/23830146

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple atresias and a new syndrome of hereditary multiple atresias involving the gastrointestinal tract from stomach to rectum

1 reference

https://pubmed.ncbi.nlm.nih.gov/23830146

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.JACI.2013.06.013

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4 March 2020

1 reference

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4 March 2020

1 reference

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4 March 2020

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