| 2020 |
Yorgan TA, Sari H, Rolvien T, Windhorst S, Failla AV, Kornak U, Oheim R, Amling M, Schinke T. Mice lacking plastin-3 display a specific defect of cortical bone acquisition. Bone. January 2020;130:115062. |
3 |
2 |
| 2020 |
Ehmke N, Cusmano-Ozog K, Koenig R, Holtgrewe M, Nur B, Mihci E, Babcock H, Gonzaga-Jauregui C, Overton JD, Xiao J, Martinez AF, Muenke M, Balzer A, Jochim J, El Choubassi N, Fischer-Zirnsak B, Huber C, Kornak U, Elsea SH, Cormier-Daire V, Ferreira CR. Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism. Bone. April 2020;133:115219. |
0 |
0 |
| 2021 |
Butscheidt S, Tsourdi E, Rolvien T, Delsmann A, Stürznickel J, Barvencik F, Jakob F, Hofbauer LC, Mundlos S, Kornak U, Seefried L, Oheim R. Relevant genetic variants are common in women with pregnancy and lactation-associated osteoporosis (PLO) and predispose to more severe clinical manifestations. Bone. June 2021;147:115911. |
2 |
1 |
| 2023 |
Stauber T, Wartosch L, Vishnolia S, Schulz A, Kornak U. CLCN7, a gene shared by autosomal recessive and autosomal dominant osteopetrosis. Bone. March 2023;168:116639. |
1 |
1 |
| 2018 |
Rolvien T, Stürznickel J, Schmidt FN, Butscheidt S, Schmidt T, Busse B, Mundlos S, Schinke T, Kornak U, Amling M, Oheim R. Comparison of bone microarchitecture between adult osteogenesis imperfecta and early-onset osteoporosis. Calcif Tiss Int. November 2018;103(5):512-521. |
13 |
5 |
| 2020 |
Rolvien T, Kornak U, Linke SJ, Amling M, Oheim R. Whole-exome sequencing identifies novel compound heterozygous ZNF469 mutations in two siblings with mild brittle cornea syndrome. Calcif Tiss Int. September 2020;107(3):294-299. |
0 |
0 |
| 2020 |
Oheim R, Zimmerman K, Maulding ND, Stürznickel J, von Kroge S, Kavanagh D, Stabach PR, Kornak U, Tommasini SM, Horowitz MC, Amling M, Thompson D, Schinke T, Busse B, Carpenter TO, Braddock DT. Human heterozygous ENPP1 deficiency is associated with early onset osteoporosis, a phenotype recapitulated in a mouse model of Enpp1 deficiency. J Bone Miner Res. March 2020;35(3):528-539. |
9 |
2 |
| 2020 |
Howaldt A, Hennig AF, Rolvien T, Rössler U, Stelzer N, Knaus A, Böttger S, Zustin J, Geißler S, Oheim R, Amling M, Howaldt H, Kornak U. Adult osteosclerotic metaphyseal dysplasia with progressive osteonecrosis of the jaws and abnormal bone resorption pattern due to a LRRK1 splice site mutation. J Bone Miner Res. July 2020;35(7):1322-1332. |
1 |
1 |
| 2021 |
Stürznickel J, Rolvien T, Delsmann A, Butscheidt S, Barvencik F, Mundlos S, Schinke T, Kornak U, Amling M, Oheim R. Clinical phenotype and relevance of LRP5 and LRP6 variants in patients with early‐onset osteoporosis (EOOP). J Bone Miner Res. 2021;36(2):271-282. |
5 |
2 |
| 2021 |
Stürznickel J, Jähn-Rickert K, Zustin J, Hennig F, Delsmann MM, Schoner K, Rehder H, Kreczy A, Schinke T, Amling M, Kornak U, Oheim R. Compound heterozygous frameshift mutations in MESD cause a lethal syndrome suggestive of osteogenesis imperfecta type XX. J Bone Miner Res. June 2021;36(6):1077-1087. |
1 |
1 |
| 2022 |
Stürznickel J, Heider F, Delsmann A, Gödel M, Grünhagen J, Huber TB, Kornak U, Amling M, Oheim R. Clinical spectrum of hereditary hypophosphatemic rickets with hypercalciuria (HHRH). J Bone Miner Res. August 2022;37(8):1580-1591. |
0 |
0 |
| 2022 |
Costantini A, Mäkitie RE, Hartmann MA, Fratzl-Zelman N, Zillikens MC, Kornak U, Søe K, Mäkitie O. Early-onset osteoporosis: rare monogenic forms elucidate the complexity of disease pathogenesis beyond type I collagen. J Bone Miner Res. September 2022;37(9):1623-1641. |
1 |
0 |