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Three novel homozygous ITGB2 mutations among two patients with leukocyte adhesion defect type-1: Two case reports

World journal of clinical pediatrics, 2022, Vol.11 (5), p.429-436

2022

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A Novel Homozygous Frameshift Mutation in ITGB3 Causes Glanzmann's Thrombasthenia

Acta haematologica, 2022, Vol.145 (1), p.78-83

2022

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Novel missense p.R252L mutation of ITGB4 compounded with known 3793+1G>A mutation associated with nonlethal epidermolysis bullosa-pyloric atresia with obstructive uropathy

JAAD case reports, 2021, Vol.11, p.63-68

2021

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Case Report: A Boy From a Consanguineous Family Diagnosed With Congenital Muscular Dystrophy Caused by Integrin Alpha 7 (ITGA7) Mutation

Frontiers in genetics, 2021, Vol.12, p.706823-706823

2021

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Case Report: Uncommon Association of ITGB4 and KRT10 Gene Mutation in a Case of Epidermolysis Bullosa With Pyloric Atresia and Aplasia Cutis Congenita

Frontiers in genetics, 2021, Vol.12, p.641977-641977

2021

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Leukocyte Adhesion Deficiency Type 1 Due to Novel ITGB2 Mutation

Irish medical journal, 2020, Vol.113 (7), p.129-129

2020

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Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn

Acta dermato-venereologica, 2020, Vol.100 (1), p.adv00041-adv00041

2020

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Junctional epidermolysis bullosa without pyloric atresia due to a homozygous missense mutation in ITGB4

The Journal of dermatology, 2019, Vol.46 (2), p.e61-e63

2019

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ITGB (Integrin subunit beta) 3 mutation involved in pulmonary hemorrhage and osteopetrosis

Respiratory medicine case reports, 2019, Vol.26, p.270-272

2019

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A novel variant Glanzmann thrombasthenia due to co-inheritance of a loss- and a gain-of-function mutation of ITGB3: evidence of a dominant effect of gain-of-function mutations

Haematologica, 2018, Vol.103 (6), p.e259-e263

2018

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Epidermolysis Bullosa with Pyloric Atresia and Aplasia Cutis in a Newborn Due to Homozygous Mutation in ITGB4

Fetal and Pediatric Pathology, 2017, Vol.36 (4), p.332-339

2017

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Reporting on Two Novel Fusions, DYSF-ALK and ITGAV-ALK, Coexisting in One Patient with Adenocarcinoma of Lung, Sensitive to Crizotinib

Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer, 2018, Vol.13 (3), p.e43-e45

2018

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Two novel ITGA2B mutations in a Glanzmann thrombasthaenia family associated with different platelet phenotypic expression

Blood transfusion = Trasfusione del sangue, 2017, Vol.15 (5), p.487-488

2017

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Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4)

The Turkish journal of pediatrics, 2015, Vol.57 (4), p.385-387

2015

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ITGB4-associated non-Herlitz junctional epidermolysis bullosa: report of two new cases carrying two novel ITGB4 mutations

The British journal of dermatology, 2013, Vol.168 (2), p.432-434

2013

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Long-term follow-up of a spontaneously improving patient with junctional epidermolysis bullosa associated with ITGB4 c.3977-19T>A splicing mutation

Acta dermato-venereologica, 2013, Vol.93 (1), p.116-118

2013

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Severe pulmonary emphysema in a girl with interstitial deletion of 2q24.2q24.3 including ITGB6

American Journal of Medical Genetics Part A, 2010, Vol.152A (4), p.1020-1025

2010

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In situ antibody phage display yields optimal inhibitors of integrin α11/β1

mAbs, 2020, Vol.12 (1)

2020

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Tanja ITGENSHORST, Tota illa pompa. Der Triumph in der römischen Republik

L'Antiquité Classique, 2007, Vol.76 (1), p.536-538

Vervaet, Frederik Juliaan

2007

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The TGF-β inhibitory activity of antibody 37E1B5 depends on its H-CDR2 glycan

mAbs, 2017, Vol.9 (1), p.104-113

2017

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Perineural spread of rhino-orbitocerebral mucormycosis caused by Apophysomyces elegans

Annals of Indian Academy of Neurology, 2013, Vol.16 (3), p.414-417

2013

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Extracellular Vesicles as Next-Generation Biomarkers in Lung Cancer Patients: A Case Report on Adenocarcinoma and Squamous Cell Carcinoma

Life (Basel, Switzerland), 2024, Vol.14 (3)

2024

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Infertility revealing intratubular germinal cell neoplasia of the testis: Case report and review of the literature

International journal of surgery case reports, 2023, Vol.109, p.108609-108609

2023

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Immunotactoid Glomerulopathy: A Rare Glomerular Disease Case Study

Indian journal of nephrology, 2023, Vol.33 (2), p.140-143

2023

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Three novel homozygous ITGB2 mutations among two patients with leukocyte adhesion defect type-1: Two case reports

A Novel Homozygous Frameshift Mutation in ITGB3 Causes Glanzmann's Thrombasthenia

Novel missense p.R252L mutation of ITGB4 compounded with known 3793+1G>A mutation associated with nonlethal epidermolysis bullosa-pyloric atresia with obstructive uropathy

Case Report: A Boy From a Consanguineous Family Diagnosed With Congenital Muscular Dystrophy Caused by Integrin Alpha 7 (ITGA7) Mutation

Case Report: Uncommon Association of ITGB4 and KRT10 Gene Mutation in a Case of Epidermolysis Bullosa With Pyloric Atresia and Aplasia Cutis Congenita

Leukocyte Adhesion Deficiency Type 1 Due to Novel ITGB2 Mutation

Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn

Junctional epidermolysis bullosa without pyloric atresia due to a homozygous missense mutation in ITGB4

ITGB (Integrin subunit beta) 3 mutation involved in pulmonary hemorrhage and osteopetrosis

A novel variant Glanzmann thrombasthenia due to co-inheritance of a loss- and a gain-of-function mutation of ITGB3: evidence of a dominant effect of gain-of-function mutations

Epidermolysis Bullosa with Pyloric Atresia and Aplasia Cutis in a Newborn Due to Homozygous Mutation in ITGB4

Reporting on Two Novel Fusions, DYSF-ALK and ITGAV-ALK, Coexisting in One Patient with Adenocarcinoma of Lung, Sensitive to Crizotinib

Two novel ITGA2B mutations in a Glanzmann thrombasthaenia family associated with different platelet phenotypic expression

Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4)

ITGB4-associated non-Herlitz junctional epidermolysis bullosa: report of two new cases carrying two novel ITGB4 mutations

Long-term follow-up of a spontaneously improving patient with junctional epidermolysis bullosa associated with ITGB4 c.3977-19T>A splicing mutation

Severe pulmonary emphysema in a girl with interstitial deletion of 2q24.2q24.3 including ITGB6

In situ antibody phage display yields optimal inhibitors of integrin α11/β1

Tanja ITGENSHORST, Tota illa pompa. Der Triumph in der römischen Republik

The TGF-β inhibitory activity of antibody 37E1B5 depends on its H-CDR2 glycan

Perineural spread of rhino-orbitocerebral mucormycosis caused by Apophysomyces elegans

Extracellular Vesicles as Next-Generation Biomarkers in Lung Cancer Patients: A Case Report on Adenocarcinoma and Squamous Cell Carcinoma

Variable CD18 expression in a 22-year-old female with leukocyte adhesion deficiency I: Clinical case and literature review

Infertility revealing intratubular germinal cell neoplasia of the testis: Case report and review of the literature

Immunotactoid Glomerulopathy: A Rare Glomerular Disease Case Study

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