UniSa - IRIS Institutional Research Information System

Sfoglia per Autore  

Opzioni
Mostrati risultati da 1 a 20 di 65
Titolo Data di pubblicazione Autore(i) File
Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus 1-gen-1992 Scambler, Pj; Kelly, D; Illingworth, E; Williamson, R; Goldberg, R; Shprintzen, R; Wilson, Di; Goodship, Ja; Cross, Ie; Burn, J
Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congential heart disease 1-gen-1993 Halford, S; Wadey, R; Roberts, C; Daw, Scm; Whiting, Ja; O’Donnell, H; Dunham, I; Bently, D; Illingworth, E; Baldini, A; Francis, F; Lehrach, H; Williamson, R; Wilson, Di; Goodship, J; Burn, J; Scambler, Pj
Low-copy number repeat sequences flank the DiGeorge/Velocardiofacial syndrome loci at 22q11 1-gen-1993 Halford, S; Illingworth, E; Nayudu, M; Carey, Ah; Baldini, A and Scambler PJ
The microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic and molecular characterization 1-gen-1994 Illingworth, E; Grillo, A; Ferrero, Gb; Roth, Ej; Magenis, E; Grompe, M; Hulten, M; Gould, C; Baldini, A; Zoghbi, Hy; Ballabio, A
Schizophrenia and Chromosomal Deletions within 22q11.2 1-gen-1995 Illingworth, E; Morris, M; Goes, A; Nestadt, G; Wolyniec, Ps; Lasseter, Vk; Shprintzen, R; Antonarakis, S; Baldini, A; Pulver, Ae
A de novo tandem duplication of chromosome segment 22q11-q12: clinical, cytogenetic and molecular characterization 1-gen-1995 Illingworth, E; Shaffer, Lg; Carrozzo, R; Greenberg, F; Baldini, A
Velocardiofacial syndrome: frequency and extent of 22q11 deletions 1-gen-1995 Illingworth, E; Goldberg, R; Jurecic, V; Morrow, B; Carlson, C; Kucherlapati, Rs; Shprintzen, Rj; Baldini, A.
Submicroscopic deletions at 22q11.2: Variability of the clinical picture and delineation of a commonly deleted region 1-gen-1995 Illingworth, E; Greenberg, F; Shaffer, Lg; Shapira, Sk; Scambler, Pj; Baldini, A
A transcription map in the CATCH-22 critical region: identification, mapping and ordering of 4 novel transcripts expressed in heart 1-gen-1996 Illingworth, E; Rizzu, P; Antonacci, R; Jurecic, V; Delmas-Mata, J; Kim, U-J; Scambler, P; Baldini, A
A mouse gene related to Drosphila gonadal is expressed in early embryogenesis and is the homolog of a human gene deleted in DiGeorge syndrome 1-gen-1997 Illingworth, Elizabeth Anne
A genetic etiology for interruption of the aortic arch type B 1-gen-1997 Illingworth, Elizabeth
Functional analysis of Gscl in the pathogenesis of the DiGeorge and Velocardiofacial syndromes 1-gen-1998 Wakamiya, M; Illingworth, ELISABETH ANNE; RIVERA PEREZ, Ja; Baldini, A; Behringer, R.
ES2, a gene deleted in DiGeorge syndrome, encodes a nuclear protein and is expressed during early mouse development, where it shares an expression domain with a Goosecoid-like gene 1-gen-1998 Illingworth, ELISABETH ANNE; Harvey, El; Scambler, Pj; Baldini, A.
Congenital heart defects and 22q11 deletions: Which genes count? 1-gen-1998 Illingworth, ELISABETH ANNE; Baldini, A.
Congenital heart disease in mice deficient for the DiGeorge syndrome region 1-gen-1999 Illingworth, ELISABETH ANNE; Jurecic, V; CARATTINI RIVERA, S; Cheah, Y. C.; Rosenblatt, Hm; Bradley, A; Baldini,
Recovey from arterial growth delay reduces penetrance of cardiovascular defects in mice deleted for the DiGeorge syndrome region 1-gen-2001 Illingworth, ELISABETH ANNE
Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice. 1-gen-2001 Illingworth, ELISABETH ANNE; Vitelli, F; Su, H; Morishima, M; Huynh, T; Pramparo, T; Jurecic, V; Ogunrinu, G; Sutherland, Hf; Scambler, Pj; Bradley, A; Baldini, A.
Genetic factors are major determinants of phenotypic variability in a mouse model of DiGeorge syndrome 1-gen-2001 Taddei, I; Morishima, M; Huynh, T; Illingworth, ELISABETH ANNE
Mice deleted for the DiGeorge/velocardiofacial syndrome region show abnormal sensorimotor gating and learning and memory impairments. 1-gen-2001 Paylor, R; Mcilwain, Kl; Mcaninch, R; Nellis, A; YUVA PAYLOR, La; Baldini, A; Illingworth, ELISABETH ANNE
Chromosomal microdeletions: dissecting del22q11 syndrome. 1-gen-2001 Illingworth, ELISABETH ANNE
Mostrati risultati da 1 a 20 di 65
Legenda icone

  •  file ad accesso aperto
  •  file disponibili sulla rete interna
  •  file disponibili agli utenti autorizzati
  •  file disponibili solo agli amministratori
  •  file sotto embargo
  •  nessun file disponibile