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Results: 1-25 | 26-30
Results: 1-25/30
Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination
Authors: Brown, LY Odent, S David, V Blayau, M Dubourg, C Apacik, C Delgado, MA Ha, BD Reynolds, JF Sommer, A Wieczorek, D Brown, SA Muenke, M
Citation: Ly. Brown et al., Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination, HUM MOL GEN, 10(8), 2001, pp. 791-796
Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly
Authors: Orioli, IM Castilla, EE Ming, JE Nazer, J de Aguiar, MJB Llerena, JC Muenke, M
Citation: Im. Orioli et al., Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly, HUM GENET, 109(1), 2001, pp. 1-6
Midline and laterality defects: left and right meet in the middle
Authors: Roessler, E Muenke, M
Citation: E. Roessler et M. Muenke, Midline and laterality defects: left and right meet in the middle, BIOESSAYS, 23(10), 2001, pp. 888-900
Semilobar holoprosencephaly in a 46,XY female fetus
Authors: Witters, I Moerman, P Muenke, M Van Assche, FA Devriendt, K Legius, E Van Schoubroeck, D Fryns, JP
Citation: I. Witters et al., Semilobar holoprosencephaly in a 46,XY female fetus, PRENAT DIAG, 21(10), 2001, pp. 839-841
Novel SNP at the common primer site of exon IIIa of FGFR2 gene causes error in molecular diagnosis of craniosynostosis syndrome
Authors: Wong, LJC Chen, TJ Dai, P Bird, L Muenke, M
Citation: Ljc. Wong et al., Novel SNP at the common primer site of exon IIIa of FGFR2 gene causes error in molecular diagnosis of craniosynostosis syndrome, AM J MED G, 102(3), 2001, pp. 282-285
SHH mutation is associated with solitary median maxillary central incisor:A study of 13 patients and review of the literature
Authors: Nanni, L Ming, JE Du, YZ Hall, RK Aldred, M Bankier, A Muenke, M
Citation: L. Nanni et al., SHH mutation is associated with solitary median maxillary central incisor:A study of 13 patients and review of the literature, AM J MED G, 102(1), 2001, pp. 1-10
Reciprocal mouse and human limb phenotypes caused by gain- and loss-of-function mutations affecting Lmbr1
Authors: Clark, RM Marker, PC Roessler, E Dutra, A Schimenti, JC Muenke, M Kingsley, DM
Citation: Rm. Clark et al., Reciprocal mouse and human limb phenotypes caused by gain- and loss-of-function mutations affecting Lmbr1, GENETICS, 159(2), 2001, pp. 715-726
Molecular genetics of holoprosencephaly
Authors: Nanni, L Schelper, RL Muenke, M
Citation: L. Nanni et al., Molecular genetics of holoprosencephaly, PEDIAT PATH, 19(1), 2000, pp. 1-19
Molecular genetics of holoprosencephaly
Authors: Nanni, L Schelper, RL Muenke, M
Citation: L. Nanni et al., Molecular genetics of holoprosencephaly, FRONT BIOSC, 5, 2000, pp. D334-D342
Genetic approaches to understanding brain development: Holoprosencephaly as a model
Authors: Muenke, M Cohen, MM
Citation: M. Muenke et Mm. Cohen, Genetic approaches to understanding brain development: Holoprosencephaly as a model, MENT RET D, 6(1), 2000, pp. 15-21
Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects (vol 26, pg 365, 2000)
Authors: Bamford, RN Roessler, E Burdine, RD Saplakoglu, U dela Cruz, J Splitt, M Goodship, JA Towbin, J Bowers, P Ferrero, GB Marino, B Schier, AF Shen, MM Muenke, M Casey, B
Citation: Rn. Bamford et al., Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects (vol 26, pg 365, 2000), NAT GENET, 26(4), 2000, pp. 501-501
Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects
Authors: Bamford, RN Roessler, E Burdine, RD Saplakoglu, U dela Cruz, J Splitt, M Towbin, J Bowers, P Marino, B Schier, AF Shen, MM Muenke, M Casey, B
Citation: Rn. Bamford et al., Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects, NAT GENET, 26(3), 2000, pp. 365-369
Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination
Authors: Gripp, KW Wotton, D Edwards, MC Roessler, E Ades, L Meinecke, P Richieri-Costa, A Zackai, EH Massague, J Muenke, M Elledge, SJ
Citation: Kw. Gripp et al., Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination, NAT GENET, 25(2), 2000, pp. 205-208
Mutations in holoprosencephaly
Authors: Wallis, D Muenke, M
Citation: D. Wallis et M. Muenke, Mutations in holoprosencephaly, HUM MUTAT, 16(2), 2000, pp. 99-108
Genetics of ventral forebrain development and holoprosencephaly
Authors: Muenke, M Beachy, PA
Citation: M. Muenke et Pa. Beachy, Genetics of ventral forebrain development and holoprosencephaly, CUR OP GEN, 10(3), 2000, pp. 262-269
The genomic structure, chromosome location, and analysis of the human DKK1head inducer gene as a candidate for holoprosencephaly
Authors: Roessler, E Du, Y Glinka, A Dutra, A Niehrs, C Muenke, M
Citation: E. Roessler et al., The genomic structure, chromosome location, and analysis of the human DKK1head inducer gene as a candidate for holoprosencephaly, CYTOG C GEN, 89(3-4), 2000, pp. 220-224
Lobar holoprosencephaly in an infant born to a mother with classic phenylketonuria
Authors: Keller, K McCune, H Williams, C Muenke, M
Citation: K. Keller et al., Lobar holoprosencephaly in an infant born to a mother with classic phenylketonuria, AM J MED G, 95(2), 2000, pp. 187-188
Holoprosencephaly: Molecular study of a California population
Authors: Nanni, L Croen, LA Lammer, EJ Muenke, M
Citation: L. Nanni et al., Holoprosencephaly: Molecular study of a California population, AM J MED G, 90(4), 2000, pp. 315-319
ARP3 beta, the gene encoding a new human actin-related protein, is alternatively spliced and predominantly expressed in brain neuronal cells
Authors: Jay, P Berge-Lefranc, JL Massacrier, A Roessler, E Wallis, D Muenke, M Gastaldi, M Taviaux, S Cau, P Berta, P
Citation: P. Jay et al., ARP3 beta, the gene encoding a new human actin-related protein, is alternatively spliced and predominantly expressed in brain neuronal cells, EUR J BIOCH, 267(10), 2000, pp. 2921-2928
Mutation analysis and embryonic expression of the HLXB9 Currarino syndromegene
Authors: Hagan, DM Ross, AJ Strachan, T Lynch, SA Ruiz-Perez, V Wang, YM Scambler, P Custard, E Reardon, W Hassan, S Muenke, M Nixon, P Papapetrou, C Winter, RM Edwards, Y Morrison, K Barrow, M Cordier-Alex, MP Correia, P Galvin-Parton, PA Gaskill, S Gaskin, KJ Garcia-Minaur, S Gereige, R Hayward, R Homfray, T McKeown, C Murday, V Plauchu, H Shannon, N Spitz, L Lindsay, S
Citation: Dm. Hagan et al., Mutation analysis and embryonic expression of the HLXB9 Currarino syndromegene, AM J HU GEN, 66(5), 2000, pp. 1504-1515
Fibrodysplasia ossificans progressiva, a heritable disorder of severe heterotopic ossification, maps to human chromosome 4q27-31
Authors: Feldman, G Li, M Martin, S Urbanek, M Urtizberea, JA Fardeau, M LeMerrer, M Connor, JM Triffitt, J Smith, R Muenke, M Kaplan, FS Shore, EM
Citation: G. Feldman et al., Fibrodysplasia ossificans progressiva, a heritable disorder of severe heterotopic ossification, maps to human chromosome 4q27-31, AM J HU GEN, 66(1), 2000, pp. 128-135
Molecular mechanisms of holoprosencephaly
Authors: Wallis, DE Muenke, M
Citation: De. Wallis et M. Muenke, Molecular mechanisms of holoprosencephaly, MOL GEN MET, 68(2), 1999, pp. 126-138
Craniosynostosis syndromes: From genes to premature fusion of skull bones
Authors: Hehr, U Muenke, M
Citation: U. Hehr et M. Muenke, Craniosynostosis syndromes: From genes to premature fusion of skull bones, MOL GEN MET, 68(2), 1999, pp. 139-151
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly
Authors: Wallis, DE Roessler, E Hehr, U Nanni, L Wiltshire, T Richieri-Costa, A Gillessen-Kaesbach, G Zackai, EH Rommens, J Muenke, M
Citation: De. Wallis et al., Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly, NAT GENET, 22(2), 1999, pp. 196-198
The mutational spectrum of the Sonic Hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly
Authors: Nanni, L Ming, JE Bocian, M Steinhaus, K Bianchi, DW de Die-Smulders, C Giannotti, A Imaizumi, K Jones, KL Del Campo, M Martin, RA Meinecke, P Pierpont, MEM Robin, NH Young, ID Roessler, E Muenke, M
Citation: L. Nanni et al., The mutational spectrum of the Sonic Hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly, HUM MOL GEN, 8(13), 1999, pp. 2479-2488
Risultati: 1-25 | 26-30