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Page 1
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.
Kumble S, Levy AM, Punetha J, Gao H, Ah Mew N, Anyane-Yeboa K, Benke PJ, Berger SM, Bjerglund L, Campos-Xavier B, Ciliberto M, Cohen JS, Comi AM, Curry C, Damaj L, Denommé-Pichon AS, Emrick L, Faivre L, Fasano MB, Fiévet A, Finkel RS, García-Miñaúr S, Gerard A, Gomez-Puertas P, Guillen Sacoto MJ, Hoffman TL, Howard L, Iglesias AD, Izumi K, Larson A, Leiber A, Lozano R, Marcos-Alcalde I, Mintz CS, Mullegama SV, Møller RS, Odent S, Oppermann H, Ostergaard E, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Paulson AM, Platzer K, Posey JE, Potocki L, Revah-Politi A, Rio M, Ritter AL, Robinson S, Rosenfeld JA, Santos-Simarro F, Sousa SB; Undiagnosed Diseases Network; Wéber M, Xie Y, Chung WK, Brown NJ, Tümer Z. Kumble S, et al. Hum Mutat. 2022 Feb;43(2):266-282. doi: 10.1002/humu.24308. Epub 2021 Dec 11. Hum Mutat. 2022. PMID: 34859529 Free article.
Customized high resolution CGH-array for clinical diagnosis reveals additional genomic imbalances in previous well-defined pathological samples.
Vallespín E, Palomares Bralo M, Mori MÁ, Martín R, García-Miñaúr S, Fernández L, de Torres ML, García-Santiago F, Mansilla E, Santos F, M-Montaño VE, Crespo MC, Martín S, Martínez-Glez V, Delicado A, Lapunzina P, Nevado J. Vallespín E, et al. Am J Med Genet A. 2013 Aug;161A(8):1950-60. doi: 10.1002/ajmg.a.35960. Epub 2013 Jun 24. Am J Med Genet A. 2013. PMID: 23798500
A new overgrowth syndrome is due to mutations in RNF125.
Tenorio J, Mansilla A, Valencia M, Martínez-Glez V, Romanelli V, Arias P, Castrejón N, Poletta F, Guillén-Navarro E, Gordo G, Mansilla E, García-Santiago F, González-Casado I, Vallespín E, Palomares M, Mori MA, Santos-Simarro F, García-Miñaur S, Fernández L, Mena R, Benito-Sanz S, del Pozo Á, Silla JC, Ibañez K, López-Granados E, Martín-Trujillo A, Montaner D; SOGRI Consortium; Heath KE, Campos-Barros Á, Dopazo J, Nevado J, Monk D, Ruiz-Pérez VL, Lapunzina P. Tenorio J, et al. Hum Mutat. 2014 Dec;35(12):1436-41. doi: 10.1002/humu.22689. Hum Mutat. 2014. PMID: 25196541
PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.
Nevado J, Rosenfeld JA, Mena R, Palomares-Bralo M, Vallespín E, Ángeles Mori M, Tenorio JA, Gripp KW, Denenberg E, Del Campo M, Plaja A, Martín-Arenas R, Santos-Simarro F, Armengol L, Gowans G, Orera M, Sanchez-Hombre MC, Corbacho-Fernández E, Fernández-Jaén A, Haldeman-Englert C, Saitta S, Dubbs H, Bénédicte DB, Li X, Devaney L, Dinulos MB, Vallee S, Crespo MC, Fernández B, Fernández-Montaño VE, Rueda-Arenas I, de Torres ML, Ellison JW, Raskin S, Venegas-Vega CA, Fernández-Ramírez F, Delicado A, García-Miñaúr S, Lapunzina P. Nevado J, et al. Eur J Hum Genet. 2015 Dec;23(12):1615-26. doi: 10.1038/ejhg.2015.51. Epub 2015 Apr 8. Eur J Hum Genet. 2015. PMID: 25853300 Free PMC article.
Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations.
Barraza-García J, Iván Rivera-Pedroza C, Salamanca L, Belinchón A, López-González V, Sentchordi-Montané L, del Pozo Á, Santos-Simarro F, Campos-Barros Á, Lapunzina P, Guillén-Navarro E, González-Casado I, García-Miñaur S, Heath KE. Barraza-García J, et al. Am J Med Genet A. 2016 Jan;170A(1):210-6. doi: 10.1002/ajmg.a.37393. Epub 2015 Sep 16. Am J Med Genet A. 2016. PMID: 26374189
Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.
Yaoita M, Niihori T, Mizuno S, Okamoto N, Hayashi S, Watanabe A, Yokozawa M, Suzumura H, Nakahara A, Nakano Y, Hokosaki T, Ohmori A, Sawada H, Migita O, Mima A, Lapunzina P, Santos-Simarro F, García-Miñaúr S, Ogata T, Kawame H, Kurosawa K, Ohashi H, Inoue S, Matsubara Y, Kure S, Aoki Y. Yaoita M, et al. Hum Genet. 2016 Feb;135(2):209-22. doi: 10.1007/s00439-015-1627-5. Epub 2015 Dec 29. Hum Genet. 2016. PMID: 26714497
Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants.
Santos-Simarro F, Vallespin E, Del Pozo A, Ibañez K, Silla JC, Fernandez L, Nevado J, González-Pecellín H, Montaño VEF, Martin R, Alba Valdivia LI, García-Miñaúr S, Lapunzina P, Palomares-Bralo M. Santos-Simarro F, et al. Clin Genet. 2017 Sep;92(3):350-351. doi: 10.1111/cge.12965. Epub 2017 Mar 30. Clin Genet. 2017. PMID: 28074499 No abstract available.
Mutations in PIK3R1 can lead to APDS2, SHORT syndrome or a combination of the two.
Bravo García-Morato M, García-Miñaúr S, Molina Garicano J, Santos Simarro F, Del Pino Molina L, López-Granados E, Ferreira Cerdán A, Rodríguez Pena R. Bravo García-Morato M, et al. Clin Immunol. 2017 Jun;179:77-80. doi: 10.1016/j.clim.2017.03.004. Epub 2017 Mar 14. Clin Immunol. 2017. PMID: 28302518
134 results