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Achondroplasia: a comprehensive clinical review

Orphanet journal of rare diseases, 2019-01, Vol.14 (1), p.1-1, Article 1

Pauli, Richard M

2019

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Achondroplasia natural history study (CLARITY): 60-year experience in orthopedic surgery from four skeletal dysplasia centers

Orphanet journal of rare diseases, 2023-06, Vol.18 (1), p.139-139, Article 139

2023

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Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States

Genetics in medicine, 2021-08, Vol.23 (8), p.1498-1505

2021

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Achondroplasia is associated with increased occurrence of apparent life‐threatening events

Acta Paediatrica, 2021-06, Vol.110 (6), p.1842-1846

2021

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Apparently benign craniocervical signs in achondroplasia: "neurologic leftovers" identified through a retrospective dataset

Orphanet journal of rare diseases, 2020-10, Vol.15 (1), p.301-301, Article 301

2020

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Letter to the editor: Response to two recent articles regarding achondroplasia

American journal of medical genetics. Part A, 2016-04, Vol.170A (4), p.1099-1100

Pauli, Richard M.

2016

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Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

Nature genetics, 2011-04, Vol.43 (4), p.303-305

2011

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Craniocervical junction issues after infancy in achondroplasia

American journal of medical genetics. Part A, 2021-01, Vol.185 (1), p.182-189

2021

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Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

American journal of human genetics, 2014-01, Vol.94 (1), p.105-112

2014

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Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study-a multi-center retrospective cohort study of achondroplasia in the US

Orphanet journal of rare diseases, 2021-12, Vol.16 (1), p.522-522, Article 522

2021

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Multicenter study of mortality in achondroplasia

American journal of medical genetics. Part A, 2018-11, Vol.176 (11), p.2359-2364

2018

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Otolaryngology Utilization in Patients With Achondroplasia: Results From the CLARITY Study

The Laryngoscope, 2022-08, Vol.132 (8), p.1548-1554

2022

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Route of delivery does not impact postnatal surgical morbidity in pregnancies affected by fetal achondroplasia

Genetics in medicine, 2023-07, Vol.25 (7), p.100845, Article 100845

2023

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Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a TRPV4 Pathogenic Variant

Molecular syndromology, 2019-05, Vol.10 (3), p.154-160

2019

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Weight gain velocity in infants with achondroplasia

American journal of medical genetics. Part A, 2020-01, Vol.182 (1), p.146-149

2020

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Acanthosis nigricans in achondroplasia

American journal of medical genetics. Part A, 2018-12, Vol.176 (12), p.2630-2636

2018

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Typical achondroplasia secondary to a unique insertional variant of FGFR3 with in vitro demonstration of its effect on FGFR3 function

American journal of medical genetics. Part A, 2021-03, Vol.185 (3), p.798-805

2021

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Geleophysic dysplasia: 48 year clinical update with emphasis on cardiac care

American journal of medical genetics. Part A, 2018-11, Vol.176 (11), p.2237-2242

2018

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Progression of Mineral Ion Abnormalities in Patients With Jansen Metaphyseal Chondrodysplasia

The journal of clinical endocrinology and metabolism, 2018-07, Vol.103 (7), p.2660-2669

2018

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Achondroplasia Natural History Study (CLARITY): 60-year experience with hydrocephalus in achondroplasia from four skeletal dysplasia centers

Journal of neurosurgery. Pediatrics, 2023-12, Vol.32 (6), p.649

2023

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CLARITY: Co‐occurrences in achondroplasia—craniosynostosis, seizures, and decreased risk of diabetes mellitus

American journal of medical genetics. Part A, 2021-04, Vol.185 (4), p.1168-1174

2021

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Airway malacia in children with achondroplasia

American journal of medical genetics. Part A, 2014-02, Vol.164A (2), p.407-414

2014

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Stillbirth Classification—Developing an International Consensus for Research: Executive Summary of a National Institute of Child Health and Human Development Workshop

Obstetrics and gynecology, 2009-10, Vol.114 (4), p.901-914

2009

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Novel COL2A1 Variant (c.619G>A, p.Gly207Arg) Manifesting as a Phenotype Similar to Progressive Pseudorheumatoid Dysplasia and Spondyloepiphyseal Dysplasia, Stanescu Type

Human mutation, 2015-10, Vol.36 (10), p.1004-1008

2015

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Achondroplasia: a comprehensive clinical review

Achondroplasia natural history study (CLARITY): 60-year experience in orthopedic surgery from four skeletal dysplasia centers

Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States

Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1

Achondroplasia is associated with increased occurrence of apparent life‐threatening events

Apparently benign craniocervical signs in achondroplasia: "neurologic leftovers" identified through a retrospective dataset

Letter to the editor: Response to two recent articles regarding achondroplasia

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

Craniocervical junction issues after infancy in achondroplasia

Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study-a multi-center retrospective cohort study of achondroplasia in the US

Multicenter study of mortality in achondroplasia

Otolaryngology Utilization in Patients With Achondroplasia: Results From the CLARITY Study

Route of delivery does not impact postnatal surgical morbidity in pregnancies affected by fetal achondroplasia

Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a TRPV4 Pathogenic Variant

Weight gain velocity in infants with achondroplasia

Acanthosis nigricans in achondroplasia

Typical achondroplasia secondary to a unique insertional variant of FGFR3 with in vitro demonstration of its effect on FGFR3 function

Geleophysic dysplasia: 48 year clinical update with emphasis on cardiac care

Progression of Mineral Ion Abnormalities in Patients With Jansen Metaphyseal Chondrodysplasia

Achondroplasia Natural History Study (CLARITY): 60-year experience with hydrocephalus in achondroplasia from four skeletal dysplasia centers

CLARITY: Co‐occurrences in achondroplasia—craniosynostosis, seizures, and decreased risk of diabetes mellitus

Airway malacia in children with achondroplasia

Stillbirth Classification—Developing an International Consensus for Research: Executive Summary of a National Institute of Child Health and Human Development Workshop

Novel COL2A1 Variant (c.619G>A, p.Gly207Arg) Manifesting as a Phenotype Similar to Progressive Pseudorheumatoid Dysplasia and Spondyloepiphyseal Dysplasia, Stanescu Type

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