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

Human mutation, 2009-03, Vol.30 (3), p.379-390

2009

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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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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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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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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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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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Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia

Nature genetics, 1999-09, Vol.23 (1), p.94-98

1999

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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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Majewski osteodysplastic primordial dwarfism type II (MOPD II): Natural history and clinical findings

American journal of medical genetics. Part A, 2004-09, Vol.130A (1), p.55-72

2004

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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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The natural histories of bone dysplasias in adults-Vignettes, fables and just-so stories

American journal of medical genetics. Part C, Seminars in medical genetics, 2007-08, Vol.145C (3), p.309-321

Pauli, Richard M.

2007

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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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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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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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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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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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Chondrodysplasia punctata associated with malabsorption from bariatric procedures

Surgery for obesity and related diseases, 2010, Vol.6 (1), p.99-101

2010

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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.649-8

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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Achondroplasia: a comprehensive clinical review

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

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

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

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

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

Multicenter study of mortality in achondroplasia

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

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

Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia

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

Craniocervical junction issues after infancy in achondroplasia

Majewski osteodysplastic primordial dwarfism type II (MOPD II): Natural history and clinical findings

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

The natural histories of bone dysplasias in adults-Vignettes, fables and just-so stories

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

Weight gain velocity in infants with achondroplasia

Acanthosis nigricans in achondroplasia

Progression of Mineral Ion Abnormalities in Patients With Jansen Metaphyseal Chondrodysplasia

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

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

Chondrodysplasia punctata associated with malabsorption from bariatric procedures

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

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