Disease: Bone marrow failure neurologic abnormalities
- <em>CDK5RAP2</em> primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects
- 1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius-like phenotypes
- A family with Hoyeraal-Hreidarsson syndrome and four variants in two genes of the telomerase core complex
- A homozygous telomerase T-motif variant resulting in markedly reduced repeat addition processivity in siblings with Hoyeraal Hreidarsson syndrome
- A Narrative Review on Fanconi Anemia: Genetic and Diagnostic Considerations
- A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly
- A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome
- A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism
- A unique case of coats plus syndrome and dyskeratosis congenita in a patient with CTC1 mutations
- Aberrant splicing due to a novel RPS7 variant causes Diamond-Blackfan Anemia associated with spontaneous remission and meningocele
- An atypical patient with bone marrow failure syndrome-2 without microcephaly and learning disability in a Chinese family
- Aplastic anemia and Hoyeraal-Hreidarsson syndrome
- Application potential of bone marrow mesenchymal stem cell (BMSCs) based tissue-engineering for spinal cord defect repair in rat fetuses with spina bifida aperta
- Association between Chiari malformation and bone marrow failure/myelodysplastic syndrome
- Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood
- Biallelic mutations in WRAP53 result in dysfunctional telomeres, Cajal bodies and DNA repair, thereby causing Hoyeraal-Hreidarsson syndrome
- Biallelic TERT variant leads to Hoyeraal-Hreidarsson syndrome with additional dyskeratosis congenita findings
- Bilateral Proliferative Retinopathy Associated With Hoyeraal-Hreidarsson Syndrome, a Severe Form of Dyskeratosis Congenita
- Bispectral index monitoring in a patient with combination of congenital insensitivity to pain with anhidrosis (CIPA) and Shwachman-Diamond syndrome
- Bone marrow failure syndrome caused by homozygous frameshift mutation in the ERCC6L2 gene
- Brain imaging features of children with Hoyeraal-Hreidarsson syndrome
- Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population
- Central nervous system lesions in Fanconi anemia: Experience from a research center for Fanconi anemia patients
- Characteristic phenotypes of ADH5/ALDH2 deficiency during childhood
- Clinical and genetic features of dyskeratosis congenita, cryptic dyskeratosis congenita, and Hoyeraal-Hreidarsson syndrome in Japan
- Coats plus syndrome (cerebroretinal microangiopathy with calcifications and cysts-1): A case report
- Comparison of the clinical phenotype and haematological course of siblings with Fanconi anaemia
- Complications for a Hoyeraal-Hreidarsson Syndrome Patient with a Germline <em>DKC1</em> A353V Variant Undergoing Unrelated Peripheral Blood Stem Cell Transplantation
- Compound heterozygous mutations in the helicase RTEL1 causing Hoyeraal-Hreidarsson syndrome with Blake`s pouch cyst: a case report
- Congenital Amegakaryocytic Thrombocytopenia Type II Presenting with Multiple Central Nervous System Anomalies
- Constitutional mutations in RTEL1 cause severe dyskeratosis congenita
- De novo NUF2 variant in a novel inherited bone marrow failure syndrome including microcephaly and renal hypoplasia
- Different Presentations of Patients with Transcobalamin II Deficiency: A Single-Center Experience from Turkey
- Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings
- Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders
- Dyskeratosis Congenita and Related Telomere Biology Disorders
- Endocrinological features of a patient with 14q microdeletion and Dubowitz phenotype
- ERCC6L2-associated inherited bone marrow failure syndrome
- Expanding the FANCO/RAD51C associated phenotype: Cleft lip and palate and lobar holoprosencephaly, two rare findings in Fanconi anemia
- Extreme growth failure is a common presentation of ligase IV deficiency
- Fanconi Anemia Neuroinflammatory Syndrome (FANS): Brain Lesions and Neurologic Injury in Fanconi Anemia
- Fanconi anemia neuroinflammatory syndrome: brain lesions and neurologic injury in Fanconi anemia
- Fanconi anemia: correlating central nervous system malformations and genetic complementation groups
- First-trimester diagnosis of thrombocytopenia-absent radius syndrome using virtual reality
- From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants
- Full length RTEL1 is required for the elongation of the single-stranded telomeric overhang by telomerase
- Further Evidence for <em>RFWD3</em> Gene Causing Fanconi Anemia Complementation Group W: Detailed Clinical Report of the Second Case in the Literature
- Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders
- Genotype-phenotype and outcome associations in patients with Fanconi anemia: the National Cancer Institute cohort
- Helicase-inactivating <em>BRIP1</em> mutation yields Fanconi anemia with microcephaly and other congenital abnormalities
- Helicase-inactivating BRIP1 mutation yields Fanconi anemia with microcephaly and other congenital abnormalities
- High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders
- Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1
- Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up
- Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing
- Hoyeraal-Hreidarsson syndrome with combined immunodeficiency and enterocolitis caused by a DCK1 gene variant
- Hoyeraal-Hreidarsson Syndrome: An Extremely Rare Dyskeratosis Congenita Phenotype
- Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability
- Hypo- and Hyper-Assembly Diseases of RNA-Protein Complexes
- Impaired telomere integrity and rRNA biogenesis in PARN-deficient patients and knock-out models
- Inflammatory manifestations in patients with Shwachman-Diamond syndrome: A novel phenotype
- Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects
- Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome
- Ligase IV syndrome can present with microcephaly and radial ray anomalies similar to Fanconi anaemia plus fatal kidney malformations
- Long-Term Outcome of Adenosine Deaminase-Deficient Patients-a Single-Center Experience
- Massive Splenomegaly with Pancytopenia in an Adult: Gaucher's Disease
- Mcph1, mutated in primary microcephaly, is also crucial for erythropoiesis
- Molecular basis of telomere syndrome caused by CTC1 mutations
- Mutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypes
- Mutations in the NHEJ component XRCC4 cause primordial dwarfism
- Mutations of the RTEL1 Helicase in a Hoyeraal-Hreidarsson Syndrome Patient Highlight the Importance of the ARCH Domain
- Neonatal intestinal obstruction in Hoyeraal-Hreidarsson syndrome with novel RTEL1 variants
- New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome
- NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome
- Novel Compound Heterozygous RTEL1 Gene Mutations in a Patient With Hoyeraal-Hreidarsson Syndrome
- Novel Mutation in the DKC1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome As a Rare Differential Diagnosis in Pontocerebellar Hypoplasia, Primary Microcephaly, and Progressive Bone Marrow Failure
- Ocular manifestations of genetic skin disorders
- Oral mucosal manifestations in some genodermatoses: correlation with cutaneous lesions
- Paget's Disease of Bone
- Periodontal diseases in children and adolescents: a clinician's perspective part 2
- Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report
- Progressive reticulate skin pigmentation and anonychia in a patient with bone marrow failure
- Radiation-free reduced-intensity hematopoietic stem cell transplantation with in vivo T-cell depletion from matched related and unrelated donors for Fanconi anemia: prognostic factor analysis
- Resonance assignment and secondary structure of the tandem harmonin homology domains of human RTEL1
- Retinopathy and bone marrow failure revealing Coats plus syndrome
- RTEL1 (regulator of telomere elongation helicase 1), a DNA helicase essential for genome stability
- RTEL1: functions of a disease-associated helicase
- Septo-optic dysplasia and hemophagocytic lymphohistiocytosis in an infant
- SLX4 interacts with RTEL1 to prevent transcription-mediated DNA replication perturbations
- Successful outcome of allogeneic stem cell transplantation in Seckel syndrome
- Targeted therapy for genetic cancer syndromes: Fanconi anemia, medullary thyroid cancer, tuberous sclerosis, and RASopathies
- TCR αβ and CD19-depleted haploidentical stem cell transplant with reduced intensity conditioning for Hoyeraal-Hreidarsson syndrome with RTEL1 mutation
- Telomere shortening by mutations in the RTEL1 helicase cause severe form of dyskeratosis congenita, Hoyerall-Hreidarsson syndrome
- Telomere-driven diseases and telomere-targeting therapies
- The C-terminal extension of human RTEL1, mutated in Hoyeraal-Hreidarsson syndrome, contains harmonin-N-like domains
- Tread carefully: A functional variant in the human NADPH oxidase 4 (NOX4) is not disease causing
- Treatment of telomeropathies
- Unilateral Coats'-like disease and an intragenic deletion in the TERC gene: A case report
- Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder
- When Telomerase Causes Telomere Loss