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Items: 16

Select item 94793171.

Cushing syndrome as a failed cardiac screen in a patient with McCune–Albright syndrome: a case report

Christy Foster, Hiba Al Zubeidi, Alicia Diaz-Thomas

J Med Case Rep. 2022; 16: 342. Published online 2022 Sep 15. doi: 10.1186/s13256-022-03533-1

PMCID:: PMC9479317

Abstract Article PDF–872K

Select item 90167792.

Growth in individuals with Saul–Wilson syndrome

Carlos R. Ferreira, Timothy Niiler, Angela L. Duker, Andrew P. Jackson, Michael B. Bober

Am J Med Genet A. Author manuscript; available in PMC 2022 Apr 19.

Published in final edited form as: Am J Med Genet A. 2020 Sep; 182(9): 2110–2116. Published online 2020 Jul 11. doi: 10.1002/ajmg.a.61754

PMCID:: PMC9016779

Abstract Article PDF–1.0M

Select item 87753363.

Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I

Tatyana Markova, Vladimir Kenis, Evgeniy Melchenko, Darya Osipova, Tatyana Nagornova, Anna Orlova, Ekaterina Zakharova, Elena Dadali, Sergey Kutsev

Genes (Basel) 2022 Jan; 13(1): 137. Published online 2022 Jan 13. doi: 10.3390/genes13010137

PMCID:: PMC8775336

Abstract Article PDF–1.9M

Select item 82761564.

Neonatal Schwartz-Jampel syndrome type II: a rare case of peripheral origin of neonatal hypertonia

Arjun Verma, Nishant Banait, Pradeep Suryawanshi, Reema Garegrat

BMJ Case Rep. 2021; 14(7): e240397. Published online 2021 Jul 12. doi: 10.1136/bcr-2020-240397

PMCID:: PMC8276156

Abstract Article PDF–612K

Select item 76542235.

Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry

Dorothy K. Grange, Helen I. Roessler, Conor McClenaghan, Karen Duran, Kathleen Shields, Maria S. Remedi, Nine V. A. M. Knoers, Jin-Moo Lee, Edwin P. Kirk, Ingrid Scurr, Sarah F. Smithson, Gautam K. Singh, Mieke M. van Haelst, Colin G. Nichols, Gijs van Haaften

Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2020 Nov 10.

Published in final edited form as: Am J Med Genet C Semin Med Genet. 2019 Dec; 181(4): 658–681. doi: 10.1002/ajmg.c.31753

PMCID:: PMC7654223

Abstract Article PDF–2.2M

Select item 65949166.

Oro-dental and cranio-facial characteristics of osteogenesis imperfecta type V

Jean-Marc Retrouvey, Doaa Taqi, Faleh Tamimi, Didem Dagdeviren, Francis H. Glorieux, Brendan Lee, Renna Hazboun, Deborah Krakow, V. Reid Sutton, Members of the BBD Consortium, Frank Rauch

Eur J Med Genet. Author manuscript; available in PMC 2020 Dec 1.

Published in final edited form as: Eur J Med Genet. 2019 Dec; 62(12): 103606. Published online 2018 Dec 26. doi: 10.1016/j.ejmg.2018.12.011

PMCID:: PMC6594916

Abstract Article PDF–1.5M

Select item 65856447.

Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB‐related skeletal disorders in three fetuses and a 106‐year‐old exhibit

Helga Rehder, Franco Laccone, Susanne G. Kircher, Ralf L. Schild, Christiane Rapp, Rainer Bald, Bernt Schulze, Jana Behunova, Juergen Neesen, Katharina Schoner

Am J Med Genet A. 2018 Jul; 176(7): 1559–1568. Published online 2018 May 23. doi: 10.1002/ajmg.a.38828

PMCID:: PMC6585644

Abstract Article PDF–1.1M

Select item 62921308.

Non-ossifying fibroma with a pathologic fracture in a 12-year-old girl with tricho-rhino-phalangeal syndrome: a case report

Weijuan Su, Xiulin Shi, Mingzhu Lin, Caoxin Huang, Liying Wang, Haiqu Song, Yanzhen Zhuang, Haifang Zhang, Nanzhu Li, Xuejun Li

BMC Med Genet. 2018; 19: 211. Published online 2018 Dec 12. doi: 10.1186/s12881-018-0732-4

PMCID:: PMC6292130

Abstract Article PDF–4.7M

Select item 61487819.

Molecular and cellular characterizations of human cherubism: disease aggressiveness depends on osteoclast differentiation

Natacha Kadlub, Quentin Sessiecq, Marion Mandavit, Aurore Coulomb L’Hermine, Cecile Badoual, Louise Galmiche, Ariane Berdal, Vianney Descroix, Arnaud Picard, Amélie E. Coudert

Orphanet J Rare Dis. 2018; 13: 166. Published online 2018 Sep 20. doi: 10.1186/s13023-018-0907-2

PMCID:: PMC6148781

Abstract Article PDF–4.9M

Select item 553813810.

Clinical and Radiographic Delineation of Bent Bone Dysplasia-FGFR2 Type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-Shaped Phalanges

Deborah Krakow, Daniel H. Cohn, William R. Wilcox, Grace J. Noh, Leslie J. Raffel, Anna Sarukhanov, Margarita H. Ivanova, Moise Danielpour, Dorothy K. Grange, Alison M. Elliott, Jonathan A. Bernstein, David L. Rimoin, Amy E. Merrill, Ralph S. Lachman

Am J Med Genet A. Author manuscript; available in PMC 2017 Aug 1.

Published in final edited form as: Am J Med Genet A. 2016 Oct; 170(10): 2652–2661. Published online 2016 May 30. doi: 10.1002/ajmg.a.37772