Results 1 to 11 of 11
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TypeTitleAuthor(s)YearViews
Population differences in the polyalanine domain and 6 new mutations in HLXB9 in patients with Currarino syndrome
Journal:
Clinical Chemistry
Publisher:
American Association for Clinical Chemistry, Inc. The Journal's web site is located at http://www.clinchem.org
GarciaBarceló, M; So, MT; Lau, DKC; Leon, TYY; Yuan, ZW; Cai, WS; Lui, VCH; Fu, M; Herbrick, JA; Gutter, E; Proud, V; Li, L; PierreLouis, J; Aleck, K; Van Heurn, E; Belloni, E; Scherer, SW; Tam, PKH2006215
 
Human chromosome 7: DNA sequence and biology
Journal:
Science
Publisher:
American Association for the Advancement of Science. The Journal's web site is located at http://sciencemag.org
Scherer, SW; Cheung, J; MacDonald, JR; Osborne, LR; Nakabayashi, K; Herbrick, JA; Carson, AR; ParkerKatiraee, L; Skaug, J; Khaja, R; Zhang, J; Hudek, AK; Li, M; Haddad, M; Duggan, GE; Fernandez, BA; Kanematsu, E; Gentles, S; Christopoulos, CC; Choufani, S; Kwasnicka, D; Zheng, XH; Lai, Z; Nusskern, D; Zhang, Q; Gu, Z; Lu, F; Zeesman, S; Nowaczyk, MJ; Teshima, I; Chitayat, D; Shuman, C; Weksberg, R; Zackai, EH; Grebe, TA; Cox, SR; Kirkpatrick, SJ; Rahman, N; Friedman, JM; Heng, HHQ; Pelicci, PG; LoCoco, F; Belloni, E; Shaffer, LG; Pober, B; Morton, CC; Gusella, JF; Bruns, GAP; Korf, BR; Quade, BJ; Ligon, AH; Ferguson, H; Higgins, AW; Leach, NT; Herrick, SR; Lemyre, E; Farra, CG; Kim, HG; Summers, AM; Gripp, KW; Roberts, W; Szatmari, P; Winsor, EJT; Grzeschik, KH; Teebi, A; Minassian, BA; Kere, J; Armengol, L; Pujana, MA; Estivill, X; Wilson, MD; Koop, BF; Tosi, S; Moore, GE; Boright, AP; Zlotorynski, E; Kerem, B; Kroisel, PM; Petek, E; Oscier, DG; Mould, SJ; Döhner, H; Döhner, K; Rommens, JM; Vincent, JB; Venter, JC; Li, PW; Mural, RJ; Adams, MD; Tsui, LC2003763
 
Involvement of the HLXB9 homeobox gene in Currarino syndrome [2]
Journal:
American Journal of Human Genetics
Publisher:
Cell Press. The Journal's web site is located at http://www.cell.com/AJHG/
Belloni, E; Martucciello, G; Verderio, D; Ponti, E; Seri, M; Jasonni, V; Torre, M; Ferrari, M; Tsui, LC; Scherer, SW2000509
 
Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly
Journal:
Human Genetics
Publisher:
Springer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htm
Vargas, FR; Roessler, E; Gaudenz, K; Belloni, E; Whitehead, AS; Kirke, PN; Mills, JL; Hooper, G; Stevenson, RE; Cordeiro, I; Correia, P; Felix, T; Gereige, R; Cunningham, ML; Canún, S; Antonarakis, SE; Strachan, T; Tsui, LC; Scherer, SW; Muenke, M1998511
 
Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly
Journal:
Human Genetics
Publisher:
Springer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htm
Roessler, E; Ward, DE; Gaudenz, K; Belloni, E; Scherer, SW; Donnai, D; SiegelBartelt, J; Tsui, LC; Muenke, M1997356
 
Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly
Journal:
Human Molecular Genetics
Publisher:
Oxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/
Roessler, E; Belloni, E; Gaudenz, K; Vargas, F; Scherer, SW; Tsui, LC; Muenke, M1997490
 
Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.
Journal:
Nature genetics
Publisher:
Nature Publishing Group. The Journal's web site is located at http://www.genetics.nature.com
Belloni, E; Muenke, M; Roessler, E; Traverso, G; SiegelBartelt, J; Frumkin, A; Mitchell, HF; DonisKeller, H; Helms, C; Hing, AV; Heng, HH; Koop, B; Martindale, D; Rommens, JM; Tsui, LC; Scherer, SW1996441
 
Chromosomal localization in mouse and human of the vasoactive intestinal peptide receptor type 2 gene: A possible contributor to the holoprosencephaly 3 phenotype
Journal:
Genomics
Publisher:
Academic Press. The Journal's web site is located at http://www.elsevier.com/locate/ygeno
Mackay, M; Fantes, J; Scherer, S; Boyle, S; West, K; Tsui, LC; Belloni, E; Lutz, E; Van Heyningen, V; Harmar, AJ1996367
 
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.
Journal:
Nature genetics
Publisher:
Nature Publishing Group. The Journal's web site is located at http://www.genetics.nature.com
Roessler, E; Belloni, E; Gaudenz, K; Jay, P; Berta, P; Scherer, SW; Tsui, LC; Muenke, M1996460
 
Localization of two metabotropic glutamate receptor genes, GRM3 and GRM8, to human chromosome 7q
Journal:
Genomics
Publisher:
Academic Press. The Journal's web site is located at http://www.elsevier.com/locate/ygeno
Scherer, SW; Duvoisin, RM; Kuhn, R; Heng, HHQ; Belloni, E; Tsui, LC1996207
 
Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly
Publisher:
Oxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/
Scherer, SW; Poorkaj, P; Massa, H; Soder, S; Allen, T; Nunes, M; Geshuri, D; Wong, E; Belloni, E; Little, S; Zhou, L; Becker, D; Kere, J; Ignatius, J; Niikawa, N; Fukushima, Y; Hasegawa, T; Weissenbach, J; Boncinelli, E; Trask, B; Tsui, L-C; Evans, JP1994380
 
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