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Achondroplasia Natural History Study (CLARITY): 60-year experience with hydrocephalus in achondroplasia from four skeletal dysplasia centers.
Published in:
Journal of Neurosurgery: Pediatrics, 2023, v. 32, n. 6, p. 649, doi. 10.3171/2023.7.PEDS2354
By:
- Campbell, Jeffrey;
- Legare, Janet M.;
- Piatt, Joseph;
- Gough, Ethan;
- Pauli, Richard M.;
- Hashmi, S. Shahrukh;
- Rodriguez-Buritica, David F.;
- Modaff, Peggy;
- Little, Mary Ellen;
- Serna, Maria Elena;
- Smid, Cory J.;
- Dujmusic, Lorena;
- Hecht, Jacqueline T.;
- Hoover-Fong, Julie E.;
- Bober, Michael B.
Publication type:
Article
Achondroplasia Natural History Study (CLARITY): 60-year experience in cervicomedullary decompression in achondroplasia from four skeletal dysplasia centers.
Published in:
Journal of Neurosurgery: Pediatrics, 2021, v. 28, n. 2, p. 229, doi. 10.3171/2020.12.PEDS20715
By:
- Legare, Janet M.;
- Chengxin Liu;
- Pauli, Richard M.;
- Alade, Adekemi Yewande;
- Hashmi, S. Shahrukh;
- Campbell, Jeffrey W.;
- Smid, Cory J.;
- Modaff, Peggy;
- Little, Mary Ellen;
- Rodriguez-Buritica, David F.;
- Serna, Maria Elena;
- Hecht, Jaqueline T.;
- Hoover-Fong, Julie E.;
- Bober, Michael B.
Publication type:
Article
Overlapping and Distinct Features of Cardiac Pathology in Inherited Human and Murine Ether Lipid Deficiency.
Published in:
International Journal of Molecular Sciences, 2023, v. 24, n. 3, p. 1884, doi. 10.3390/ijms24031884
By:
- Dorninger, Fabian;
- Kiss, Attila;
- Rothauer, Peter;
- Stiglbauer-Tscholakoff, Alexander;
- Kummer, Stefan;
- Fallatah, Wedad;
- Perera-Gonzalez, Mireia;
- Hamza, Ouafa;
- König, Theresa;
- Bober, Michael B.;
- Cavallé-Garrido, Tiscar;
- Braverman, Nancy E.;
- Forss-Petter, Sonja;
- Pifl, Christian;
- Bauer, Jan;
- Bittner, Reginald E.;
- Helbich, Thomas H.;
- Podesser, Bruno K.;
- Todt, Hannes;
- Berger, Johannes
Publication type:
Article
CLARITY: Co-occurrences in achondroplasia—craniosynostosis, seizures, and decreased risk of diabetes mellitus.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1168, doi. 10.1002/ajmg.a.62096
By:
- Legare, Janet M.;
- Pauli, Richard M.;
- Hecht, Jacqueline T.;
- Bober, Michael B.;
- Smid, Cory J.;
- Modaff, Peggy;
- Little, Mary Ellen;
- Rodriguez-Buritica, David F.;
- Serna, Maria Elena;
- Alade, Adekemi Yewande;
- Liu, Chengxin;
- Hoover-Fong, Julie E.;
- Shahrukh Hashmi, S.
Publication type:
Article
Growth in individuals with Saul–Wilson syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2110, doi. 10.1002/ajmg.a.61754
By:
- Ferreira, Carlos R.;
- Niiler, Timothy;
- Duker, Angela L.;
- Jackson, Andrew P.;
- Bober, Michael B.
Publication type:
Article
Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 697, doi. 10.1002/ajmg.a.61464
By:
- Machol, Keren;
- Hadley, Trevor D.;
- Schmidt, Jake;
- Cuthbertson, David;
- Traboulsi, Henri;
- Silva, Rodrigo C.;
- Citron, Chloe;
- Khan, Sobiah;
- Citron, Kate;
- Carter, Erin;
- Brookler, Kenneth;
- Shapiro, Jay R.;
- Steiner, Robert D.;
- Byers, Peter H.;
- Glorieux, Francis H.;
- Durigova, Michaela;
- Smith, Peter;
- Bober, Michael B.;
- Sutton, Vernon R.;
- Lee, Brendan H.
Publication type:
Article
Rhizomelic chondrodysplasia punctata morbidity and mortality, an update.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 579, doi. 10.1002/ajmg.a.61413
By:
- Duker, Angela L.;
- Niiler, Timothy;
- Kinderman, Dagmar;
- Schouten, Monica;
- Poll‐The, Bwee Tien;
- Braverman, Nancy;
- Bober, Michael B.
Publication type:
Article
Multicenter study of mortality in achondroplasia.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2359, doi. 10.1002/ajmg.a.40528
By:
- Hashmi, S. Shahrukh;
- Gamble, Candace;
- Hoover‐Fong, Julie;
- Alade, Adekemi Yewande;
- Pauli, Richard M.;
- Modaff, Peggy;
- Carney, Meagan;
- Brown, Cassondra;
- Bober, Michael B.;
- Hecht, Jacqueline T.
Publication type:
Article
Aneurysmal bone cysts and pathologic fracture associated with supernumerary ring chromosome 6 in two unrelated patients.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3205, doi. 10.1002/ajmg.a.38498
By:
- Hurd, Lauren M.;
- Thacker, Mihir M.;
- Okenfuss, Ericka;
- Duker, Angela L.;
- Lou, Yang;
- Harty, Mary P.;
- Conard, Katrina;
- Lian, Jane B.;
- Bober, Michael B.
Publication type:
Article
Expected weight gain for children with microcephalic osteodysplastic primordial dwarfism type II.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 3067, doi. 10.1002/ajmg.a.38467
By:
- Duker, Angela L.;
- Niiler, Timothy;
- Bober, Michael B.
Publication type:
Article
Best practices in peri-operative management of patients with skeletal dysplasias.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2584, doi. 10.1002/ajmg.a.38357
By:
- White, Klane K.;
- Bompadre, Viviana;
- Goldberg, Michael J.;
- Bober, Michael B.;
- Cho, Tae‐Joon;
- Hoover‐Fong, Julie E.;
- Irving, Melita;
- Mackenzie, William G.;
- Kamps, Shawn E.;
- Raggio, Cathleen;
- Redding, Gregory J.;
- Spencer, Samantha S.;
- Savarirayan, Ravi;
- Theroux, Mary C.
Publication type:
Article
Growth charts for individuals with rhizomelic chondrodysplasia punctata.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 108, doi. 10.1002/ajmg.a.37961
By:
- Duker, Angela L.;
- Niiler, Tim;
- Eldridge, Grant;
- Brereton, Nga H.;
- Braverman, Nancy E.;
- Bober, Michael B.
Publication type:
Article
Metatropic dysplasia is associated with increased fracture risk.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1373, doi. 10.1002/ajmg.a.37576
By:
- Bober, Michael B.;
- Duker, Angela L.;
- Carney, Megan;
- Ditro, Colleen P.;
- Rogers, Kenneth;
- Mackenzie, William G.
Publication type:
Article
Response: 'Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy' and 'is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia?'.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 1101, doi. 10.1002/ajmg.a.37546
By:
- White, Klane K.;
- Savarirayan, Ravi;
- Goldberg, Michael J.;
- MacKenzie, William;
- Bompadre, Viviana;
- Bober, Michael B.;
- Cho, Tae‐Joon;
- Hoover‐Fong, Julie;
- Parnell, Shawn E.;
- Raggio, Cathleen;
- Spencer, Samantha A.;
- Campbell, Jeffery W.;
- Rapoport, David M.;
- Kifle, Yemiserach;
- Blackledge, Marcella
Publication type:
Article
Congenital Heart Defects Common in Rhizomelic Chondrodysplasia Punctata.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 270, doi. 10.1002/ajmg.a.37404
By:
- Duker, Angela L.;
- Eldridge, Grant;
- Braverman, Nancy E.;
- Bober, Michael B.
Publication type:
Article
Best Practices in the Evaluation and Treatment of Foramen Magnum Stenosis in Achondroplasia during Infancy.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 42, doi. 10.1002/ajmg.a.37394
By:
- White, Klane K.;
- Bompadre, Viviana;
- Goldberg, Michael J.;
- Bober, Michael B.;
- Campbell, Jeffrey W.;
- Cho, Tae‐Joon;
- Hoover‐Fong, Julie;
- Mackenzie, William;
- Parnell, Shawn E.;
- Raggio, Cathleen;
- Rapoport, David M.;
- Spencer, Samantha A.;
- Savarirayan, Ravi
Publication type:
Article
A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2286, doi. 10.1002/ajmg.a.37182
By:
- Hurd, Lauren;
- Kirwin, Susan M.;
- Boggs, Mary;
- Mackenzie, William G.;
- Bober, Michael B.;
- Funanage, Vicky L.;
- Duncan, Randall L.
Publication type:
Article
Keutel syndrome: Report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 1062, doi. 10.1002/ajmg.a.36390
By:
- Weaver, K. Nicole;
- El Hallek, Moussa;
- Hopkin, Robert J.;
- Sund, Kristen L.;
- Henrickson, Michael;
- del Gaudio, Daniela;
- Yuksel, Adnan;
- Acar, Gül Ozbilen;
- Bober, Michael B.;
- Kim, Jinoh;
- Boyadjiev, Simeon A.
Publication type:
Article
Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2733, doi. 10.1002/ajmg.a.35681
By:
- de Munnik, Sonja A.;
- Otten, Barto J.;
- Schoots, Jeroen;
- Bicknell, Louise S.;
- Aftimos, Salim;
- Al-Aama, Jumana Y.;
- van Bever, Yolande;
- Bober, Michael B.;
- Borm, George F.;
- Clayton-Smith, Jill;
- Deal, Cheri L.;
- Edrees, Alaa Y.;
- Feingold, Murray;
- Fryer, Alan;
- van Hagen, Johanna M.;
- Hennekam, Raoul C.;
- Jansweijer, Maaike C.E.;
- Johnson, Diana;
- Kant, Sarina G.;
- Opitz, John M.
Publication type:
Article
Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2719, doi. 10.1002/ajmg.a.35447
By:
- Bober, Michael B.;
- Niiler, Tim;
- Duker, Angela L.;
- Murray, Jennie E.;
- Ketterer, Tara;
- Harley, Margaret E.;
- Alvi, Sabah;
- Flora, Christina;
- Rustad, Cecilie;
- Bongers, Ernie M.H.F.;
- Bicknell, Louise S.;
- Wise, Carol;
- Jackson, Andrew P.
Publication type:
Article
Achondroplasia-hypochondroplasia complex and abnormal pulmonary anatomy.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2336, doi. 10.1002/ajmg.a.35530
By:
- Bober, Michael B.;
- Taylor, Megan;
- Heinle, Robert;
- Mackenzie, William
Publication type:
Article
A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay.
Published in:
2012
By:
- Baratela, Wagner A.R.;
- Bober, Michael B.;
- Tiller, George E.;
- Okenfuss, Ericka;
- Ditro, Colleen;
- Duker, Angela;
- Krakow, Deborah;
- Stabley, Deborah L.;
- Sol-Church, Katia;
- Mackenzie, William;
- Lachman, Ralph;
- Scott, Charles I.
Publication type:
Other
C-type natriuretic Peptide plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia.
Published in:
2015
By:
- Olney, Robert C;
- Prickett, Timothy C R;
- Espiner, Eric A;
- Mackenzie, William G;
- Duker, Angela L;
- Ditro, Colleen;
- Zabel, Bernhard;
- Hasegawa, Tomonobu;
- Kitoh, Hiroshi;
- Aylsworth, Arthur S;
- Bober, Michael B
Publication type:
Journal Article
Respiratory mechanics in an infant with perinatal lethal hypophosphatasia treated with human recombinant enzyme replacement therapy.
Published in:
Pediatric Pulmonology, 2012, v. 47, n. 9, p. 917, doi. 10.1002/ppul.22527
By:
- Rodriguez, Elena;
- Bober, Michael B.;
- Davey, Lauren;
- Zamora, Arlene;
- Li Puma, Annelise B.;
- Chidekel, Aaron;
- Shaffer, Thomas H.
Publication type:
Article
Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia.
Published in:
Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-41651-6
By:
- Gourgas, Ophélie;
- Lemire, Gabrielle;
- Eaton, Alison L.;
- Alshahrani, Sultanah;
- Duker, Angela L.;
- Li, Jingjing;
- Carroll, Ricki S.;
- Mackenzie, Stuart;
- Nikkel, Sarah M.;
- Bober, Michael B.;
- Boycott, Kym M.;
- Murshed, Monzur
Publication type:
Article
Metatropic dysplasia-a skeletal dysplasia with challenging airway and other anesthetic concerns.
Published in:
Pediatric Anesthesia, 2017, v. 27, n. 6, p. 596, doi. 10.1111/pan.13101
By:
- Theroux, Mary C.;
- Lopez, Martha;
- Olszewsky, Patricia J.;
- DiCindio, Sabina;
- Arai, Lynda;
- Ditro, Colleen;
- Bober, Michael B.;
- Olla, Olubukola Opeyemi;
- Uejima, Tetsu;
- West, David W.;
- Mackenzie, William G.;
- Veyckemans, Francis
Publication type:
Article
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 6, p. 598, doi. 10.1038/ejhg.2011.269
By:
- de Munnik, Sonja A;
- Bicknell, Louise S;
- Aftimos, Salim;
- Al-Aama, Jumana Y;
- van Bever, Yolande;
- Bober, Michael B;
- Clayton-Smith, Jill;
- Edrees, Alaa Y;
- Feingold, Murray;
- Fryer, Alan;
- van Hagen, Johanna M;
- Hennekam, Raoul C;
- Jansweijer, Maaike C E;
- Johnson, Diana;
- Kant, Sarina G;
- Opitz, John M;
- Ramadevi, A Radha;
- Reardon, Willie;
- Ross, Alison;
- Sarda, Pierre
Publication type:
Article
The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03126-9
By:
- Westerheim, Ingunn;
- Hart, Tracy;
- van Welzenis, Taco;
- Wekre, Lena Lande;
- Semler, Oliver;
- Raggio, Cathleen;
- Bober, Michael B.;
- Rapoport, Maria;
- Prince, Samantha;
- Rauch, Frank
Publication type:
Article
Achondroplasia natural history study (CLARITY): 60-year experience in orthopedic surgery from four skeletal dysplasia centers.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02738-x
By:
- Nahm, Nickolas J.;
- Mackenzie, W. G. Stuart;
- Mackenzie, William G.;
- Gough, Ethan;
- Hashmi, S. Shahrukh;
- Hecht, Jacqueline T.;
- Legare, Janet M.;
- Little, Mary Ellen;
- Modaff, Peggy;
- Pauli, Richard M.;
- Rodriguez-Buritica, David F.;
- Serna, Maria Elena;
- Smid, Cory J.;
- Hoover-Fong, Julie;
- Bober, Michael B.
Publication type:
Article
The Concept of Shoulder Protrusio in the Setting of Osteogenesis Imperfecta.
Published in:
Delaware Medical Journal, 2018, v. 90, n. 7, p. 258
By:
- Franzone, Jeanne M.;
- Rogers, Kenneth J.;
- Bober, Michael B.;
- Kruse, Richard W.
Publication type:
Article
Otolaryngology Utilization in Patients With Achondroplasia: Results From the CLARITY Study.
Published in:
Laryngoscope, 2022, v. 132, n. 8, p. 1548, doi. 10.1002/lary.29915
By:
- Tunkel, David E.;
- Gough, Ethan;
- Bober, Michael B.;
- Hashmi, S. Shahrukh;
- Hecht, Jacqueline T.;
- Legare, Janet M.;
- Little, Mary Ellen;
- Modaff, Peggy;
- Pauli, Richard M.;
- Rodriguez‐Buritica, David;
- Serna, Maria Elena;
- Smid, Cory J.;
- Hoover‐Fong, Julie E.
Publication type:
Article
Comprehensive pain management strategy for infants with moderate to severe osteogenesis imperfecta in the perinatal period.
Published in:
Paediatric & Neonatal Pain, 2021, v. 3, n. 4, p. 156, doi. 10.1002/pne2.12066
By:
- Carroll, Ricki S.;
- Donenfeld, Perri;
- McGreal, Cristina;
- Franzone, Jeanne M.;
- Kruse, Richard W.;
- Preedy, Catherine;
- Costa, Joanna;
- Dirnberger, Daniel R.;
- Bober, Michael B.
Publication type:
Article
The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02627-3
By:
- Rapoport, Maria;
- Bober, Michael B.;
- Raggio, Cathleen;
- Wekre, Lena Lande;
- Rauch, Frank;
- Westerheim, Ingunn;
- Hart, Tracy;
- van Welzenis, Taco;
- Mistry, Arun;
- Clancy, James;
- Booth, Lucy;
- Prince, Samantha;
- Semler, Oliver
Publication type:
Article
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.
Published in:
2021
By:
- Hoover-Fong, Julie E.;
- Schulze, Kerry J.;
- Alade, Adekemi Y.;
- Bober, Michael B.;
- Gough, Ethan;
- Hashmi, S. Shahrukh;
- Hecht, Jacqueline T.;
- Legare, Janet M.;
- Little, Mary Ellen;
- Modaff, Peggy;
- Pauli, Richard M.;
- Rodriguez-Buritica, David F.;
- Serna, Maria E.;
- Smid, Cory;
- Liu, Chengxin;
- McGready, John
Publication type:
journal article
A multicenter study to evaluate pulmonary function in osteogenesis imperfecta.
Published in:
Clinical Genetics, 2018, v. 94, n. 6, p. 502, doi. 10.1111/cge.13440
By:
- Tam, Allison;
- Chen, Shan;
- Schauer, Evan;
- Grafe, Ingo;
- Bandi, Venkata;
- Shapiro, Jay R.;
- Steiner, Robert D.;
- Smith, Peter A.;
- Bober, Michael B.;
- Hart, Tracy;
- Cuthbertson, David;
- Krischer, Jeffrey;
- Mullins, Mary;
- Byers, Peter H.;
- Sandhaus, Robert A.;
- Durigova, Michaela;
- Glorieux, Francis H.;
- Rauch, Frank;
- Reid Sutton, Vernon;
- Lee, Brendan
Publication type:
Article
Immune Deficiency in Microcephalic Osteodysplastic Primordial Dwarfism Type I/III.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 5, p. 895, doi. 10.1007/s10875-023-01447-1
By:
- Sirohi, Neha;
- Duker, Angela L.;
- Bober, Michael B.;
- DeFelice, Magee L.
Publication type:
Article
Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease.
Published in:
2021
By:
- Duker, Angela L.;
- Kinderman, Dagmar;
- Jordan, Christy;
- Niiler, Tim;
- Baker-Smith, Carissa M.;
- Thompson, Louise;
- Parry, David A.;
- Carroll, Ricki S.;
- Bober, Michael B.
Publication type:
journal article
Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia.
Published in:
2021
By:
- Savarirayan, Ravi;
- Tunkel, David E.;
- Sterni, Laura M.;
- Bober, Michael B.;
- Cho, Tae-Joon;
- Goldberg, Michael J.;
- Hoover-Fong, Julie;
- Irving, Melita;
- Kamps, Shawn E.;
- Mackenzie, William G.;
- Raggio, Cathleen;
- Spencer, Samantha A.;
- Bompadre, Viviana;
- White, Klane K.;
- on behalf of the Skeletal Dysplasia Management Consortium;
- on behalfof the Skeletal Dysplasia Management Consortium
Publication type:
journal article
Best practice guidelines for management of spinal disorders in skeletal dysplasia.
Published in:
2020
By:
- White, Klane K.;
- Bober, Michael B.;
- Cho, Tae-Joon;
- Goldberg, Michael J.;
- Hoover-Fong, Julie;
- Irving, Melita;
- Kamps, Shawn E.;
- Mackenzie, William G.;
- Raggio, Cathleen;
- Spencer, Samantha A.;
- Bompadre, Viviana;
- Savarirayan, Ravi;
- Skeletal Dysplasia Management Consortium
Publication type:
journal article
Long-term vascular access for infants with moderate to severe osteogenesis imperfecta.
Published in:
2021
By:
- Devin, Courtney L.;
- Sagalow, Emily;
- Penikis, Annalise;
- McGreal, Cristina M.;
- Bober, Michael B.;
- Berman, Loren
Publication type:
journal article
impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with Morquio A syndrome.
Published in:
Drug Design, Development & Therapy, 2015, v. 9, p. 1937, doi. 10.2147/DDDT.S68562
By:
- Shunji Tomatsu;
- Kazuki Sawamoto;
- Alméciga-Díaz, Carlos J.;
- Shimada, Tsutomu;
- Bober, Michael B.;
- Yasutsugu Chinen;
- Hiromasa Yabe;
- Montaño, Adriana M.;
- Giugliani, Roberto;
- Kubaski, Francyne;
- Yasuda, Eriko;
- Rodríguez-López, Alexander;
- Espejo-Mojica, Angela J.;
- Sánchez, Oscar F.;
- Mason, Robert W.;
- Barrera, Luis A.;
- Mackenzie, William G.;
- Tadao Orii
Publication type:
Article
Development of a Weight-Band Dosing Approach for Vosoritide in Children with Achondroplasia Using a Population Pharmacokinetic Model.
Published in:
Clinical Pharmacokinetics, 2024, v. 63, n. 5, p. 707, doi. 10.1007/s40262-024-01371-6
By:
- Qi, Yulan;
- Chan, Ming Liang;
- Mould, Diane R.;
- Larimore, Kevin;
- Fisheleva, Elena;
- Cherukuri, Anu;
- Day, Jonathan;
- Savarirayan, Ravi;
- Irving, Melita;
- Bacino, Carlos A.;
- Hoover-Fong, Julie;
- Ozono, Keiichi;
- Mohnike, Klaus;
- Wilcox, William R.;
- Bober, Michael B.;
- Henshaw, Joshua
Publication type:
Article
Biallelic variants in DNA2 cause microcephalic primordial dwarfism.
Published in:
Human Mutation, 2019, v. 40, n. 8, p. 1063, doi. 10.1002/humu.23776
By:
- Tarnauskaitė, Žygimantė;
- Bicknell, Louise S.;
- Marsh, Joseph A.;
- Murray, Jennie E.;
- Parry, David A.;
- Logan, Clare V.;
- Bober, Michael B.;
- Silva, Deepthi C.;
- Duker, Angela L.;
- Sillence, David;
- Wise, Carol;
- Jackson, Andrew P.;
- Murina, Olga;
- Reijns, Martin A. M.
Publication type:
Article
Collagen X Marker Levels are Decreased in Individuals with Achondroplasia.
Published in:
Calcified Tissue International, 2022, v. 111, n. 1, p. 66, doi. 10.1007/s00223-022-00966-0
By:
- Carroll, Ricki S.;
- Olney, Robert C.;
- Duker, Angela L.;
- Coghlan, Ryan F.;
- Mackenzie, William G.;
- Ditro, Colleen P.;
- Brown, Cassondra J.;
- O'Connell, David A.;
- Horton, William A.;
- Johnstone, Brian;
- Espiner, Eric A.;
- Prickett, Timothy C. R.;
- Bober, Michael B.
Publication type:
Article
Tracheal narrowing in children and adults with mucopolysaccharidosis type IVA: evaluation with computed tomography angiography.
Published in:
Pediatric Radiology, 2021, v. 51, n. 7, p. 1202, doi. 10.1007/s00247-020-04946-0
By:
- Averill, Lauren W.;
- Kecskemethy, Heidi H.;
- Theroux, Mary C.;
- Mackenzie, William G.;
- Pizarro, Christian;
- Bober, Michael B.;
- Ditro, Colleen P.;
- Tomatsu, Shunji
Publication type:
Article
Prevalence of mental health conditions and pain in adults with skeletal dysplasia.
Published in:
2019
By:
- Jennings, Sarah E.;
- Ditro, Colleen P.;
- Bober, Michael B.;
- Mackenzie, William G.;
- Rogers, Kenneth J.;
- Conway, Laura;
- Duker, Angela L.
Publication type:
journal article
Author Correction: Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia.
Published in:
Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-023-41651-6
By:
- Gourgas, Ophélie;
- Lemire, Gabrielle;
- Eaton, Alison J.;
- Alshahrani, Sultanah;
- Duker, Angela L.;
- Jingjing Li;
- Carroll, Ricki S.;
- Mackenzie, Stuart;
- Nikkel, Sarah M.;
- Bober, Michael B.;
- Boycott, Kym M.;
- Murshed, Monzur
Publication type:
Article
Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies.
Published in:
Therapeutic Advances in Musculoskeletal Disease, 2022, p. 1, doi. 10.1177/1759720X221084848
By:
- Savarirayan, Ravi;
- De Bergua, Josep Maria;
- Arundel, Paul;
- McDevitt, Helen;
- Cormier-Daire, Valerie;
- Saraff, Vrinda;
- Skae, Mars;
- Delgado, Borja;
- Leiva-Gea, Antonio;
- Santos-Simarro, Fernando;
- Salles, Jean Pierre;
- Nicolino, Marc;
- Rossi, Massimiliano;
- Kannu, Peter;
- Bober, Michael B.;
- Phillips III, John;
- Saal, Howard;
- Harmatz, Paul;
- Burren, Christine;
- Gotway, Garrett
Publication type:
Article
Midterm Outcomes of Multimodal Approach to Treating Severe Scoliosis in Patients With Osteogenesis Imperfecta.
Published in:
Journal of the American Academy of Orthopaedic Surgeons, 2024, v. 32, n. 18, p. e951, doi. 10.5435/JAAOS-D-23-00889
By:
- Yusuke Hori;
- McDonald, Tyler C.;
- Thornley, Patrick;
- Almeida da Silva, Luiz Carlos;
- Kaymaz, Burak;
- Rogers, Kenneth J.;
- Yorgova, Petya K.;
- Bober, Michael B.;
- Carroll, Ricki;
- Kruse, Richard W.;
- Franzone, Jeanne M.;
- Shah, Suken A.
Publication type:
Article
Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice.
Published in:
Advances in Therapy, 2024, v. 41, n. 1, p. 198, doi. 10.1007/s12325-023-02705-9
By:
- Semler, Oliver;
- Cormier-Daire, Valérie;
- Lausch, Ekkehart;
- Bober, Michael B.;
- Carroll, Ricki;
- Sousa, Sérgio B.;
- Deyle, David;
- Faden, Maha;
- Hartmann, Gabriele;
- Huser, Aaron J.;
- Legare, Janet M.;
- Mohnike, Klaus;
- Rohrer, Tilman R.;
- Rutsch, Frank;
- Smith, Pamela;
- Travessa, Andre M.;
- Verardo, Angela;
- White, Klane K.;
- Wilcox, William R.;
- Hoover-Fong, Julie
Publication type:
Article

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