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Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up

Haematologica (Roma), 2018-01, Vol.103 (1), p.30-39

2018

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Danazol: An Effective and Underutilised Treatment Option in Diamond-Blackfan Anaemia

Case reports in hematology, 2019-01, Vol.2019, p.4684156-5

2019

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Flow Cytometric Test with Eosin-5-Maleimide for a Diagnosis of Hereditary Spherocytosis in a Newborn

Case reports in hematology, 2019-01, Vol.2019, p.5925731-5

2019

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Cancer in dyskeratosis congenita

Blood, 2009-06, Vol.113 (26), p.6549-6557

2009

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Thinking of VACTERL-H? Rule out Fanconi Anemia according to PHENOS

American journal of medical genetics. Part A, 2016-06, Vol.170A (6), p.1520-1524

2016

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Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita

Human genetics, 2013-04, Vol.132 (4), p.473-480

2013

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Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita

Genes & development, 2011-01, Vol.25 (1), p.11-16

2011

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Telomere length is associated with disease severity and declines with age in dyskeratosis congenita

Haematologica (Roma), 2012-03, Vol.97 (3), p.353-359

2012

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TINF2, a Component of the Shelterin Telomere Protection Complex, Is Mutated in Dyskeratosis Congenita

American journal of human genetics, 2008-02, Vol.82 (2), p.501-509

2008

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Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders

The European respiratory journal, 2017-01, Vol.49 (1), p.1601640-1601640

2017

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Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study

British journal of haematology, 2010-07, Vol.150 (2), p.179-188

2010

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Variable Clinical Features in a Large Family With Diamond Blackfan Anemia Caused by a Pathogenic Missense Mutation in RPS19

Frontiers in genetics, 2022-07, Vol.13

2022

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Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1

Genes & development, 2014-10, Vol.28 (19), p.2090-2102

2014

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Germline biallelic BRCA2 pathogenic variants and medulloblastoma: an international cohort study

Journal of hematology and oncology, 2024-04, Vol.17 (1), p.26-26

2024

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Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in RPL35A

Haematologica (Roma), 2021-05, Vol.106 (5), p.1303-1310

2021

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Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families

Blood, 2014-07, Vol.124 (1), p.24-32

2014

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Correlation of Leukocyte Telomere Length Measurement Methods in Patients with Dyskeratosis Congenita and in Their Unaffected Relatives

International journal of molecular sciences, 2017-08, Vol.18 (8), p.1765

2017

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Ocular and Orbital Manifestations of the Inherited Bone Marrow Failure Syndromes: Fanconi Anemia and Dyskeratosis Congenita

Ophthalmology (Rochester, Minn.), 2010-03, Vol.117 (3), p.615-622

2010

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Constraining the Emission of Particulate Matter From Indonesian Peatland Burning Using Continuous Observation Data

Journal of geophysical research. Atmospheres, 2018-09, Vol.123 (17), p.9828-9842

2018

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Are non-fracture vertebral deformities more prevalent in patients with osteoporotic vertebral fractures?

Bone Reports, 2021-04, Vol.14, p.101050, Article 101050

2021

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Lipoprotein particle alterations due to androgen therapy in individuals with dyskeratosis congenita

EBioMedicine, 2022-01, Vol.75, p.103760-103760, Article 103760

2022

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Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up

Pediatric neurology, 2016-03, Vol.56, p.62-68.e1

2016

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Prognostic significance of pulmonary function tests in dyskeratosis congenita, a telomere biology disorder

ERJ open research, 2019-10, Vol.5 (4), p.209

2019

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Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up

GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity

Danazol: An Effective and Underutilised Treatment Option in Diamond-Blackfan Anaemia

Flow Cytometric Test with Eosin-5-Maleimide for a Diagnosis of Hereditary Spherocytosis in a Newborn

Cancer in dyskeratosis congenita

Thinking of VACTERL-H? Rule out Fanconi Anemia according to PHENOS

Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita

Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita

Telomere length is associated with disease severity and declines with age in dyskeratosis congenita

TINF2, a Component of the Shelterin Telomere Protection Complex, Is Mutated in Dyskeratosis Congenita

Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders

Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study

Variable Clinical Features in a Large Family With Diamond Blackfan Anemia Caused by a Pathogenic Missense Mutation in RPS19

Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1

Germline biallelic BRCA2 pathogenic variants and medulloblastoma: an international cohort study

A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome

Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in RPL35A

Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families

Correlation of Leukocyte Telomere Length Measurement Methods in Patients with Dyskeratosis Congenita and in Their Unaffected Relatives

Ocular and Orbital Manifestations of the Inherited Bone Marrow Failure Syndromes: Fanconi Anemia and Dyskeratosis Congenita

Constraining the Emission of Particulate Matter From Indonesian Peatland Burning Using Continuous Observation Data

Are non-fracture vertebral deformities more prevalent in patients with osteoporotic vertebral fractures?

Lipoprotein particle alterations due to androgen therapy in individuals with dyskeratosis congenita

Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up

Prognostic significance of pulmonary function tests in dyskeratosis congenita, a telomere biology disorder

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