Disease: Acromesomelic dysplasia Hunter Thompson type
- <em>NPR2</em> gene variants in familial short stature: a single-center study
- A case report of Arnold Chiari type 1 malformation in acromesomelic dwarf infant
- A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia
- A mild case of acromesomelic dysplasia, type Maroteaux with novel natriuretic peptide receptor B (<em>NPR2</em>) variants
- A mild case of acromesomelic dysplasia, type Maroteaux with novel natriuretic peptide receptor B (NPR2) variants
- A novel <em>NPR2</em> mutation (p.Arg388Gln) in a patient with acromesomelic dysplasia, type Maroteaux
- A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter-Thompson type
- A novel loss-of-function mutation in Npr2 clarifies primary role in female reproduction and reveals a potential therapy for acromesomelic dysplasia, Maroteaux type
- A novel member of the STOMATIN/EPB72/mec-2 family, stomatin-like 2 (STOML2), is ubiquitously expressed and localizes to HSA chromosome 9p13.1
- A NOVEL MUTATION IN NPR2 GENE IN A PATIENT WITH ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
- A novel nonsense mutation in NPR2 gene causing Acromesomelic dysplasia, type Maroteaux in a consanguineous family in Southern Punjab (Pakistan)
- A novel NPR2 mutation (p.Arg388Gln) in a patient with acromesomelic dysplasia, type Maroteaux
- A novel variant in BMPR1B causes acromesomelic dysplasia Grebe type in a consanguineous Moroccan family: Expanding the phenotypic and mutational spectrum of acromesomelic dysplasias
- Accommodating difference in the prehistoric past: Revisiting the case of Romito 2 from a bioarchaeology of care perspective
- Acromesomelic dysplasia
- Acromesomelic dysplasia associated with mild lumbar spine stenosis
- Acromesomelic dysplasia Maroteaux type maps to human chromosome 9
- Acromesomelic dysplasia Maroteaux-type in patients from Vietnam
- Acromesomelic dysplasia of the Maroteaux type
- Acromesomelic dysplasia with bronchiectasis
- Acromesomelic dysplasia with cardiac and neurologic abnormalities: an association by chance, new features of maroteaux type or a new syndrome?
- Acromesomelic dysplasia-Maroteaux type, nine patients with two novel <em>NPR2</em> variants
- Acromesomelic dysplasia-Maroteaux type, nine patients with two novel NPR2 variants
- Acromesomelic dysplasia, type maroteaux caused by novel loss-of-function mutations of the NPR2 gene: Three case reports
- Acromesomelic Dysplasia, Type Maroteaux: Impact of Long-Term (8 Years) High-Dose Growth Hormone Treatment on Growth Velocity and Final Height in 2 Siblings
- Acromesomelic dysplasia. Report of case
- Acromesomelic-spondyloepiphyseal dysplasia associated with congenital optic atrophy: report of a family
- An Iranian Patient with Maroteaux Type Acromesomelic Dysplasia, Showing no Involvement of Distal Lower Limbs
- Anaesthetic challenges in a patient with acromesomelic dysplasia posted for vitreoretinal surgery - A case study
- Anesthesia for a patient of acromesomelic dysplasia with associated hydrocephalus, Arnold Chiari malformation and syringomyelia
- Biallelic cGMP-dependent type II protein kinase gene (<em>PRKG2</em>) variants cause a novel acromesomelic dysplasia
- Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia
- Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia
- Bone morphogenetic protein receptor signal transduction in human disease
- C-natriuretic peptide: an important regulator of cartilage
- C-type natriuretic peptide in growth: a new paradigm
- C-type natriuretic peptide plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia
- Case report: hypomagnesaemia in a patient with acromesomelic dysplasia
- Characterization of an acromesomelic dysplasia, Grebe type case: novel mutation affecting the recognition motif at the processing site of GDF5
- Clinical and molecular analysis of Grebe acromesomelic dysplasia in an Omani family
- Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature
- Coexistence of craniovertebral junction stenosis with pancake kidney in an adolescent with acromesomelic dysplasia
- Congenital hallux valgus occurs in Fibrodysplasia Ossificans Progressiva and BMPR1B-associated dysplasia: an important distinction
- Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type Maroteaux
- Diagnostic test for mucopolysaccharidosis. II. Rapid quantification of glycosaminoglycan in urine samples collected on a paper matrix
- Distinctive tomographic features of atlantoaxial dislocation in a boy with acromesomelic dysplasia du Pan syndrome
- Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene
- Evaluation of polysomnography findings in children with genetic skeletal disorders
- Exclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type
- Extending the clinical spectrum of pain channelopathies
- Fibular Agenesis and Ball-Like Toes Mimicking Preaxial Polydactyly: Prenatal Presentation of Du Pan Syndrome
- Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience
- GDF-5 deficiency in mice alters the ultrastructure, mechanical properties and composition of the Achilles tendon
- Generation of induced pluripotent stem cell line (IGIBi007-A) from a patient with a novel acromesomelic dysplasia, PRKG2 type (AMDP)
- Genetics of human isolated acromesomelic dysplasia
- Grebe syndrome: clinical and radiographic findings in affected individuals and heterozygous carriers
- Heterozygous <em>NPR2</em> Mutation in Two Family Members with Short Stature and Skeletal Dysplasia
- Heterozygous mutations in natriuretic peptide receptor-B (NPR2) are associated with short stature
- Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature
- Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short stature
- Homozygous sequence variants in the NPR2 gene underlying Acromesomelic dysplasia Maroteaux type (AMDM) in consanguineous families
- Hormones and osteoporosis update. Effects of natriuretic peptides on endochondral bone growth
- Identification and functional characterization of two novel NPR2 mutations in Japanese patients with short stature
- Identification of Diagnostic Variants in <em>FGFR2</em> and <em>NPR2</em> Genes in a Chinese Family Affected by Crouzon Syndrome and Acromesomelic Dysplasia, Type Maroteaux
- Identification of Diagnostic Variants in FGFR2 and NPR2 Genes in a Chinese Family Affected by Crouzon Syndrome and Acromesomelic Dysplasia, Type Maroteaux
- Identification of one novel homozygous mutation in the NPR2 gene in a patient from Taiwan with acromesomelic dysplasia Maroteaux type
- Intact kinase homology domain of natriuretic peptide receptor-B is essential for skeletal development
- Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility
- Localization of an acromesomelic dysplasia on chromosome 9 by homozygosity mapping
- Management of general anesthesia for a patient with Maroteaux type acromesomelic dysplasia complicated with obstructive sleep apnea syndrome and hereditary myopathy
- Molecular and in silico analyses validates pathogenicity of homozygous mutations in the NPR2 gene underlying variable phenotypes of Acromesomelic dysplasia, type Maroteaux
- Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux
- Natriuretic peptides, their receptors, and cyclic guanosine monophosphate-dependent signaling functions
- Natural history of clinical features in two brothers with acromesomelic dysplasia related to PRKG2
- New insights into the structure, assembly and biological roles of 10-12 nm connective tissue microfibrils from fibrillin-1 studies
- New pathogenic variant in the NPR2 gene: Etiology of low size, macrocephaly and bone dysplasia in a male with acromesomelic dysplasia Maroteaux-type
- Novel homozygous sequence variants in the GDF5 gene underlie acromesomelic dysplasia type-grebe in consanguineous families
- Novel Loss-of-Function Mutations in <em>NPR2</em> Cause Acromesomelic Dysplasia, Maroteaux Type
- Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type
- Novel mutations in natriuretic peptide receptor-2 gene underlie acromesomelic dysplasia, type maroteaux
- Novel mutations in the transmembrane natriuretic peptide receptor NPR-B gene in four Indian families with acromesomelic dysplasia, type Maroteaux
- Novel NPR2 Gene Mutations Affect Chondrocytes Function via ER Stress in Short Stature
- Novel variants in natriuretic peptide receptor 2 in unrelated patients with acromesomelic dysplasia type Maroteaux
- Ocular findings in acromesomelic dysplasia
- Ocular manifestations of genetic and development diseases
- Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene
- Phosphatase inhibition by LB-100 enhances BMN-111 stimulation of bone growth
- Rare case of dual diagnosis in consanguineous family: a case report
- Recurrent mutation in CDMP1 in a family with Grebe chondrodysplasia: broadening the phenotypic manifestation of syndrome in Pakistani population
- Regulation and therapeutic targeting of peptide-activated receptor guanylyl cyclases
- Role of the natriuretic peptide system in normal growth and growth disorders
- Short Stature is Progressive in Patients with Heterozygous NPR2 Mutations
- Skeletal ciliopathies: a pattern recognition approach
- Small nerve fibres, small hands and small feet: a new syndrome of pain, dysautonomia and acromesomelia in a kindred with a novel NaV1.7 mutation
- The cn/cn dwarf mouse. Histomorphometric, ultrastructural, and radiographic study in mutants corresponding to human acromesomelic dysplasia Maroteaux type (AMDM)
- The privileged burial of the Pava Pieve (Siena, 8th Century AD)
- Translational research of C-type natriuretic peptide (CNP) into skeletal dysplasias
- Two new patients with acromesomelic dysplasia, PRKG2 type-identification and characterization of the first missense variant
- Unveiling the pathogenic mechanisms of NPR2 missense variants: insights into the genotype-associated severity in acromesomelic dysplasia and short stature
- WDR35 variants in a cranioectodermal dysplasia patient with early onset end-stage renal disease and retinal dystrophy