Archivio della categoria: Bibliografia

Bibliografia

Adam MP, Schelley S, Gallagher R, Brady AN, Barr K, Blumberg B, Shieh JTC, Graham J, Slavotinek A, Martin M, Keppler-Noreuil K, Storm AL, Hudgins L. 2006. Clinical features and management issues in Mowat-Wilson syndrome. Am J Med Genet 140A: 2730-2741.

Adam MP, Bean LJH, Ranger Miller V. Mowat-Wilson sindrome. Genereviews
www.genetests.org

Adam M, Justice AN, Bean LJH, Fernhoff PM Mowat-Wilson syndrome with craniosynostosis. 2008. Am J Med Genet 146A: 245-246.

Amiel J, Espinosa-Parrilla Y, Steffann J, Pelet A, Gosset P, Choiset A, Tanaka H, Prieur M, Vekemans M, Munnich A, Lyonnet S. 2001. Large scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures. Am J Hum Genet 69: 1370-1377.

Cacheux V, Dastot-Le Moal F, Kääriäinen H, Bondurand N, Rintala R, Boissier B, Wilson M, Mowat D, Goossens M. 2001. Loss-of-function mutations in SIP1 Smad interacting protein 1 results in a syndromic Hirschsprung disease. Hum Mol Genet 10: 1503-1510.

Cecconi M, Forzano F, Garavelli L, Pantaleoni C, Grasso M, Dagna Bricarelli F, Perroni L, Di Maria E, Faravelli F Recurrence of Mowat-Wilson sindrome in siblings with novel mutation of the ZEB2 gene Am J Med Genet A. Dec 1;146A(23): 3095-9, 2008.

Cerruti-Mainardi P, Garavelli L, Pastore G, Virdis R, Pedori S, Godi M, Provera S, Rauch A, Zweier C, Castronovo C, Zollino M, Banchini G, Bernasconi S, Neri G: Mowat-Wilson syndrome and mutation in the Zinc Finger Homeo Box 1B Gene: a new syndrome probably under-diagnosed. Italian J Pediatr 2005, 31: 116-125.

Cerruti-Mainardi P, Pastore G, Zweier C, Rauch A. 2004. Mowat-Wilson sindrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity J Med Genet 41: e16(http: //www. jmedgenet. com/cgi/content/full/41/2/e16) doi: 10. 1136/img2003. 009548

Cerruti-Mainardi P, Garavelli L, Pastore G, Virdis R, Pedori S, Godi M, Provera S, Rauch A, Zweier C, Castronovo C, Zollino M, Banchini G, Bernasconi S, Neri G. 2005. Mowat-Wilson syndrome and mutation in the Zinc Finger Homeo Box 1B Gene: a new syndrome probably under-diagnosed. Italian J Pediatr 31: 116-125.

 

Dastot-Le Moal F, Wilson M, Mowat D, Collot N, Niel F, Goosens M. 2007. ZFHX1B mutations in patients with Mowat-Wilson syndrome. Hum Mutat 0: 1-9.

Garavelli L, Donadio A, Zanacca C, Della Giustina E, Bertani G, Albertini G, Zollino M, Rauch A, Banchini G, Neri G. 2003. Hirschsprung disease, mental retardation, characteristic facial features and mutation in the gene ZFHX1B (SIP1): confirmation of the Mowat-Wilson syndrome. Am J Med Genet 116A: 385-388.

Garavelli L, Cerruti-Mainardi P, Virdis R, Pedori S, Pastore G, Godi M, Provera S, Rauch A, Zweier C, Zollino M, Banchini G, Neri G, Bernasconi S. 2005. Genitourinary anomalies are frequent in Mowat-Wilson sindrome with deletion/mutation in ZFHX1B (SIP1): report of 3 italian cases with hypospadias and review. Hormone Research 63 (4): 187-192.

  1. Garavelli, M. Zollino, P. Cerruti Mainardi, F. Gurrieri, F. Rivieri, F. Soli, R. Verri, E. Albertini, E. Favaron, M. Zignani, D. Orteschi, P. Bianchi, F. Faravelli, F. Forzano, M. Seri, A. Wischemeijer, D. Turchetti, E. Pompilii, M. Gnoli, G. Cocchi, E. Mazzanti, R. Bergamaschi, D. De Brasi, M. P. Sperandeo, F. Mari, V. Uliana R. Mostardini, M. Cecconi, M Grasso, S. Sassi, G. Sebastio, A. Renieri, M. Silengo, S. Bernasconi, N. Wakamatsu, And G. Neri Mowat-Wilson Syndrome: Facial Phenotype Changing With Age In 19 Italian Patients and review of the literature Am J Med Genet 149A(3): 417-26, 2009

Gregory-Evans CY, Vieira H, Dalton R, Adams GG, Sal A, Gregory-Evans K. 2004. Ocular coloboma and high myopia with Hirschsprung disease associated a novel ZFHX1B missense mutation and trisomy 21. Am J Med Genet 131: 86-90.

Heinritz W, Zweier C, Froster UG, Strenge S, Kujat A, Syrbe S, Rauch A, Schuster V. 2006. A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype. Am J Med Genet 140A: 1223-1227.

Hoffer MJV, Hilhorst-Hofstee Y, Knijnenburg J, Hansson KB, Engelberts AC, Laan LAEM, Bakker E, Rosenberg C. 2007. A 6 Mb deletion in band 2q22 due to a complex chromosome rearrangement associated with severe psychomotor retardation, microcephaly and distinctive dysmorphic facial features. Eur J Med Genet 50: 149-154.

Horn D, Weschke B, Zweier C, Rauch A. 2004. Facial phenotype allows diagnosis of Mowat-Wilson syndrome in the absence of Hirschsprung disease. Am J Med Genet 124A: 102-4

Ishihara N, Yamada K, Yamada Y, Miura K, Kato J, Kuwabara N, Hara Y, Kabayashi Y, Hoshino K, Nomura Y, Mimaki M, Ohya K, Matsushima M, Nitta H, Tanaka K, Segawa M, Ohki T, Ezoe T, Kumagai T, Onuma A, Kurada T, Yoneda M, Yamanaka T, Saeki M, Segawa M, Saji T, Nagaya M, Wakamatsu N. 2004. Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFH1B mutations and deletions at 2q22-24. 1 J Med Genet 41: 387-393.

Kääriäinen H, Wallgren-Pettersson C, Clarke A, Pihko H, Taskinen H, Rintala R. 2001. Hirschsprung disease, mental retardation and dysmorphic facial features in five unrelated children. Clin Dysmorphol 10: 157-163.

Lurie IW, Supovitz KR, Rosenblum-Vos LS, Wulfsberg EA. 1994. Phenotypic variability of del(2)(q22-q23): report of a case and review of the literature. Genet Counsel 5: 11-14.

McGaughran J, Sinnott S, Dastot-Le Moal F, Wilson M, Mowat D, Sutton B, Goossens. 2005. Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation. Am J Med Genet 137A: 302-304.

Mowat DR, Croaker GDH, Cass DT, Kerr BA, Chaitow J, Adès LC, Chia NL, Wilson M. 1998. Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23. J Med Genet 35: 617-623.

Mowat DR, Wilson MJ, Goossens M. 2003. Mowat-Wilson syndrome. J Med Genet 40: 305-310.

Nagaya M, Kato J, Niimi N. 2002. Clinical features of a form of Hirschsprung’s disease caused by a novel genetic abnormality. J Pediatr Surg 37: 1117-1122

Ohtsuka M, Oguni H, Ito Y, Nakayama T, Matsuo M, Osawa M, Saito K, Yamada Y, Wakamatsu N. 2008. Mowat-Wilson Syndrome Affecting 3 Siblings. J Child Neurol, 10. 1177/0883073807309231 [doi] PST – aheadofprint

Electronic Database Information: Online Mendelian Inheritance in Man (OMIM), http: //www. ncbi. nlm. nih. gov/Omim/

Rauch A, Schellmoser S, Kraus C, Dörr HG, Trautmann U, Altherr MR, Pfeiffer RA, Reis A. 2001. First known microdeletion within the Wolf-Hirschhorn-syndrome critical region refines genotype-phenotype correlation. Am J Med Genet 99: 338-42.

Sasongko TH, Hamim A, Gunadi S, Lee MJ, Koterazawa K, Nishio H. 2007. Nonsense mutations of the ZFHX1B gene in two Japanese girls with Mowat-Wilson syndrome. Kobe J Med Sci 53(4): 152-62.

Sasso A, Paucic-Kirincic E, Kamber-Makek S, Sindicic N, Brajnovic-Zaputovic S, Brajenovic-Milic B. 2008. Mowat-Wilson syndrome: the clinical report with the novel mutation in ZFHX1B (exon 8: c. 2372delC;p. T791fsX816) Childs Nerv Syst DOI 10. 1007/s00381-007-0557-5

Silengo M, Ferrero GB, Cortese MG, Canavese F, D’Alonzo G, Papalia F. 2003. Pachygyria and cerebellar hypoplasia in Goldberg-Shprintzen syndrome. Am J Med Genet 118A: 388-390.

Silengo M, Ferrero GB, Wakamatsu. 2004. Pachygyria and cerebellar hypoplasia in a patient with a 2q22-q23 deletion that includes the ZFHX1B gene. Am J Med Genet 127A: 109.

Strenge S, Heinritz w, Zweier C, Rauch A, Rolle U, Merkenschlanger A, Froster UG. 2007. Pulmonary artery sling and congenital tracheal stenosis in another patient with Mowat-Wilson syndrome. Am J Med Genet 143(13): 1528-30.

Sztriha L, Espinosa-Parrilla Y, Gururaj A, Amiel J, Lyonnet S, Gerarni S, Johansen JG. 2003. Frameshift mutation of the Zinc Finger Homeo Box 1 B gene in syndromic corpus callosum agenesis (Mowat-Wilson syndrome). Neuropediatrics 34: 322-235.

Yamada K, Yamada Y, Nomura N, Miura K, Wakako R, Hayakawa C, Matsumoto A, KUmagai T, Yoshimura I, Miyazaki S, Kato K, Sonta S, Ono H, Yamanaka T, Nagaya N, Wakamatsu N. 2001. Nonsense and frameshift mutations in ZFHX1B, encoding Smad interacting protein 1, cause a complex developmental disorder with a great variety of clinical features. Am J Hum Genet 69: 1178-1185.

Yoneda M, Fujita T, Yamada Y, Yamada K, Fujii A, Inagaki T, Nakagawa H, Shimada A, Kishikawa M, Nagaya M, Azuma T, Kuriyama M, Wakamatsu N. 2002. Late infantile Hirschsprung disease-mental retardation syndrome with a 3-bp deletion in ZFHX1B. Neurology 59: 1637-40.

Wakamatsu N, Yasukazu Y, Kenichiro Y, Takao O, Nomura N, Taniguchi H, Kitoh H, Mutoh N, Yamanaka T, Mushiake K, Kato K, Sonta S, Nagaya M. 2001. Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease. Nat Genet 27: 369-370.

Wilson M, Mowat D, Dastot-LeMood F. 2003. Further delineation of the phenotype associated with heterozygous mutation in ZFHX1B. Am J Med Genet 119A: 257-265.

Zweier C, Albrecht B, Mitulla B, Behrens R, Beese M, Gillessen-Kaesbach G, Rott HD, Rauch A. 2002. “Mowat-Wilson” Syndrome with and without Hirschsprung Disease is a distinct, recognizable Multiple Congenital Anomalies-Mental Retardation Syndrome caused by Mutations in the Zinc finger homeobox 1 B gene (ZFHX1B). Am J Med Genet 108 (3): 177-181.

Zweier C, Temple IK, Beemer F, Zackai E, Lerman-Sagie T, Weschke B, Anderson CE, Rauch A. 2003. Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome. J Med Genet 40: 601-605.

Zweier C, Thiel CT, Dufke A, Crow YJ, Meinecke P, Suri M, Ala-Mello S, Beemer F, Bernasconi S, Bianchi P, Bier A, Devriendt K, Dimitrov B, Firth H, Gallagher RC, Garavelli L, Gillessen-Kaesbach G, Kääriäinen H, Karstens S, Mannhardt A, Mücke J, Kibaek M, Nylandsted Krogh L, Peippo M, Rittinger O, Schulz S, Schelley S, Temple K, Van der Knaap MS, Wheeler P, Yerushalmi B, Zenker M, Lowry RB Rauch A 2005. Clinical and Mutational Spectrum of Mowat-Wilson Sindrome. Eur J Med Genet 48: 97-111.

Zweier C, Horn D, Kraus C, Rauch A. 2006. Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotype. Am J Med Genet 140A: 869-872.