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Page 1
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.
Klopocki E, Lohan S, Doelken SC, Stricker S, Ockeloen CW, Soares Thiele de Aguiar R, Lezirovitz K, Mingroni Netto RC, Jamsheer A, Shah H, Kurth I, Habenicht R, Warman M, Devriendt K, Kordass U, Hempel M, Rajab A, Mäkitie O, Naveed M, Radhakrishna U, Antonarakis SE, Horn D, Mundlos S. Klopocki E, et al. Among authors: warman m. J Med Genet. 2012 Feb;49(2):119-25. doi: 10.1136/jmedgenet-2011-100409. Epub 2011 Dec 6. J Med Genet. 2012. PMID: 22147889
Clinical and locus heterogeneity in brachydactyly type C.
Robin NH, Gunay-Aygun M, Polinkovsky A, Warman ML, Morrison S. Robin NH, et al. Among authors: warman ml. Am J Med Genet. 1997 Jan 31;68(3):369-77. doi: 10.1002/(sici)1096-8628(19970131)68:3<369::aid-ajmg23>3.0.co;2-q. Am J Med Genet. 1997. PMID: 9024575
Acromesomelic dysplasia Maroteaux type maps to human chromosome 9.
Kant SG, Polinkovsky A, Mundlos S, Zabel B, Thomeer RT, Zonderland HM, Shih L, van Haeringen A, Warman ML. Kant SG, et al. Among authors: warman ml. Am J Hum Genet. 1998 Jul;63(1):155-62. doi: 10.1086/301917. Am J Hum Genet. 1998. PMID: 9634515 Free PMC article.
Clinical and molecular studies of brachydactyly type D.
Robin NH, Hurvitz J, Warman ML, Morrison S. Robin NH, et al. Among authors: warman ml. Am J Med Genet. 1999 Aug 6;85(4):413-8. doi: 10.1002/(sici)1096-8628(19990806)85:4<413::aid-ajmg20>3.0.co;2-c. Am J Med Genet. 1999. PMID: 10398270
Nosology and classification of genetic skeletal disorders: 2015 revision.
Bonafe L, Cormier-Daire V, Hall C, Lachman R, Mortier G, Mundlos S, Nishimura G, Sangiorgi L, Savarirayan R, Sillence D, Spranger J, Superti-Furga A, Warman M, Unger S. Bonafe L, et al. Among authors: warman m. Am J Med Genet A. 2015 Dec;167A(12):2869-92. doi: 10.1002/ajmg.a.37365. Epub 2015 Sep 23. Am J Med Genet A. 2015. PMID: 26394607
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
249 results