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Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1975 1
1977 2
1996 1
1997 1
2000 1
2001 1
2002 2
2006 2
2007 1
2009 4
2010 2
2011 7
2012 7
2013 5
2014 2
2015 4
2016 5
2017 11
2018 3
2019 1
2020 2
2022 1
2023 0

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PubMed (Bookshelf cited) for id: 462224

56 results

Results by year

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Page 1
Nosology and classification of genetic skeletal disorders: 2019 revision.
Mortier GR, Cohn DH, Cormier-Daire V, Hall C, Krakow D, Mundlos S, Nishimura G, Robertson S, Sangiorgi L, Savarirayan R, Sillence D, Superti-Furga A, Unger S, Warman ML. Mortier GR, et al. Am J Med Genet A. 2019 Dec;179(12):2393-2419. doi: 10.1002/ajmg.a.61366. Epub 2019 Oct 21. Am J Med Genet A. 2019. PMID: 31633310
Uncommon runs of homozygosity disclose homozygous missense mutations in two ciliopathy-related genes (SPAG17 and WDR35) in a patient with multiple brain and skeletal anomalies.
Córdova-Fletes C, Becerra-Solano LE, Rangel-Sosa MM, Rivas-Estilla AM, Alberto Galán-Huerta K, Ortiz-López R, Rojas-Martínez A, Juárez-Vázquez CI, García-Ortiz JE. Córdova-Fletes C, et al. Eur J Med Genet. 2018 Mar;61(3):161-167. doi: 10.1016/j.ejmg.2017.11.011. Epub 2017 Nov 23. Eur J Med Genet. 2018. PMID: 29174089
Orthotopic liver transplantation for Sensenbrenner syndrome.
Ackah RL, Yoeli D, Kueht M, Galván NTN, Cotton RT, Rana A, O'Mahony CA, Goss JA. Ackah RL, et al. Pediatr Transplant. 2018 Feb;22(1). doi: 10.1111/petr.13077. Epub 2017 Oct 26. Pediatr Transplant. 2018. PMID: 29076289
Parental influence on human germline de novo mutations in 1,548 trios from Iceland.
Jónsson H, Sulem P, Kehr B, Kristmundsdottir S, Zink F, Hjartarson E, Hardarson MT, Hjorleifsson KE, Eggertsson HP, Gudjonsson SA, Ward LD, Arnadottir GA, Helgason EA, Helgason H, Gylfason A, Jonasdottir A, Jonasdottir A, Rafnar T, Frigge M, Stacey SN, Th Magnusson O, Thorsteinsdottir U, Masson G, Kong A, Halldorsson BV, Helgason A, Gudbjartsson DF, Stefansson K. Jónsson H, et al. Nature. 2017 Sep 28;549(7673):519-522. doi: 10.1038/nature24018. Epub 2017 Sep 20. Nature. 2017. PMID: 28959963
Diversity of renal phenotypes in patients with WDR19 mutations: Two case reports.
Yoshikawa T, Kamei K, Nagata H, Saida K, Sato M, Ogura M, Ito S, Miyazaki O, Urushihara M, Kondo S, Sugawara N, Ishizuka K, Hamasaki Y, Shishido S, Morisada N, Iijima K, Nagata M, Yoshioka T, Ogata K, Ishikura K. Yoshikawa T, et al. Nephrology (Carlton). 2017 Jul;22(7):566-571. doi: 10.1111/nep.12996. Nephrology (Carlton). 2017. PMID: 28621010
56 results