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Page 1
Further delineation of Malan syndrome.
Priolo M, Schanze D, Tatton-Brown K, Mulder PA, Tenorio J, Kooblall K, Acero IH, Alkuraya FS, Arias P, Bernardini L, Bijlsma EK, Cole T, Coubes C, Dapia I, Davies S, Di Donato N, Elcioglu NH, Fahrner JA, Foster A, González NG, Huber I, Iascone M, Kaiser AS, Kamath A, Liebelt J, Lynch SA, Maas SM, Mammì C, Mathijssen IB, McKee S, Menke LA, Mirzaa GM, Montgomery T, Neubauer D, Neumann TE, Pintomalli L, Pisanti MA, Plomp AS, Price S, Salter C, Santos-Simarro F, Sarda P, Segovia M, Shaw-Smith C, Smithson S, Suri M, Valdez RM, Van Haeringen A, Van Hagen JM, Zollino M, Lapunzina P, Thakker RV, Zenker M, Hennekam RC. Priolo M, et al. Among authors: maas sm. Hum Mutat. 2018 Sep;39(9):1226-1237. doi: 10.1002/humu.23563. Epub 2018 Jun 25. Hum Mutat. 2018. PMID: 29897170 Free PMC article.
EEC syndrome and genitourinary anomalies: an update.
Maas SM, de Jong TP, Buss P, Hennekam RC. Maas SM, et al. Am J Med Genet. 1996 Jun 14;63(3):472-8. doi: 10.1002/(SICI)1096-8628(19960614)63:3<472::AID-AJMG11>3.0.CO;2-J. Am J Med Genet. 1996. PMID: 8737655 Review.
[Genes and genetics in Hirschsprung's disease].
Maas SM, Brooks AS, Hennekam RC, Heydendael VM, Wijburg FA, Hofstra RM. Maas SM, et al. Ned Tijdschr Geneeskd. 1999 Jun 26;143(26):1352-6. Ned Tijdschr Geneeskd. 1999. PMID: 10416491 Review. Dutch.
Further delineation of Frank-ter Haar syndrome.
Maas SM, Kayserili H, Lam J, Apak MY, Hennekam RC. Maas SM, et al. Am J Med Genet A. 2004 Dec 1;131(2):127-33. doi: 10.1002/ajmg.a.30244. Am J Med Genet A. 2004. PMID: 15523657 Review.
Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome.
Maas SM, Lombardi MP, van Essen AJ, Wakeling EL, Castle B, Temple IK, Kumar VK, Writzl K, Hennekam RC. Maas SM, et al. J Med Genet. 2009 Oct;46(10):716-20. doi: 10.1136/jmg.2009.068403. Epub 2009 Jul 7. J Med Genet. 2009. PMID: 19586929
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.
Van Houdt JK, Nowakowska BA, Sousa SB, van Schaik BD, Seuntjens E, Avonce N, Sifrim A, Abdul-Rahman OA, van den Boogaard MJ, Bottani A, Castori M, Cormier-Daire V, Deardorff MA, Filges I, Fryer A, Fryns JP, Gana S, Garavelli L, Gillessen-Kaesbach G, Hall BD, Horn D, Huylebroeck D, Klapecki J, Krajewska-Walasek M, Kuechler A, Lines MA, Maas S, Macdermot KD, McKee S, Magee A, de Man SA, Moreau Y, Morice-Picard F, Obersztyn E, Pilch J, Rosser E, Shannon N, Stolte-Dijkstra I, Van Dijck P, Vilain C, Vogels A, Wakeling E, Wieczorek D, Wilson L, Zuffardi O, van Kampen AH, Devriendt K, Hennekam R, Vermeesch JR. Van Houdt JK, et al. Nat Genet. 2012 Feb 26;44(4):445-9, S1. doi: 10.1038/ng.1105. Nat Genet. 2012. PMID: 22366787
115 results