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Results: 1-19 |
Results: 19
The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia
Authors: Braybrook, C Doudney, K Marcano, ACB Arnason, A Bjornsson, A Patton, MA Goodfellow, PJ Moore, GE Stanier, P
Citation: C. Braybrook et al., The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia, NAT GENET, 29(2), 2001, pp. 179-183
Maternal repression of the human GRB10 gene in the developing central nervous system; evaluation of the role for GRB70 in Silver-Russell syndrome
Authors: Hitchins, MP Monk, D Bell, GM Ali, Z Preece, MA Stanier, P Moore, GE
Citation: Mp. Hitchins et al., Maternal repression of the human GRB10 gene in the developing central nervous system; evaluation of the role for GRB70 in Silver-Russell syndrome, EUR J HUM G, 9(2), 2001, pp. 82-90
Severe neural tube defects in the loop-tail mouse result from mutation of Lpp1, a novel gene involved in floor plate specification
Authors: Murdoch, JN Doudney, K Paternotte, C Copp, AJ Stanier, P
Citation: Jn. Murdoch et al., Severe neural tube defects in the loop-tail mouse result from mutation of Lpp1, a novel gene involved in floor plate specification, HUM MOL GEN, 10(22), 2001, pp. 2593-2601
Circletail, a new mouse mutant with severe neural tube defects: Chromosomal localization and interaction with the loop-tail mutation
Authors: Murdoch, JN Rachel, RA Shah, S Beermann, F Stanier, P Mason, CA Copp, AJ
Citation: Jn. Murdoch et al., Circletail, a new mouse mutant with severe neural tube defects: Chromosomal localization and interaction with the loop-tail mutation, GENOMICS, 78(1-2), 2001, pp. 55-63
Identification and characterization of KLHL4, a novel human homologue of the Drosophila Kelch gene that maps within the X-linked cleft palate and ankyloglossia (CPX) critical region
Authors: Braybrook, C Warry, G Howell, G Arnason, A Bjornsson, A Moore, GE Ross, MT Stanier, P
Citation: C. Braybrook et al., Identification and characterization of KLHL4, a novel human homologue of the Drosophila Kelch gene that maps within the X-linked cleft palate and ankyloglossia (CPX) critical region, GENOMICS, 72(2), 2001, pp. 128-136
Comparative physical and transcript maps of similar to 1 Mb around loop-tail, a gene for severe neural tube defects on distal mouse chromosome 1 and human chromosome 1q22-q23
Authors: Doudney, K Murdoch, JN Paternotte, C Bentley, L Gregory, S Copp, AJ Stanier, P
Citation: K. Doudney et al., Comparative physical and transcript maps of similar to 1 Mb around loop-tail, a gene for severe neural tube defects on distal mouse chromosome 1 and human chromosome 1q22-q23, GENOMICS, 72(2), 2001, pp. 180-192
Physical and transcriptional mapping of the X-linked cleft palate and ankyloglossia (CPX) critical region
Authors: Braybrook, C Warry, G Howell, G Mandryko, V Arnason, A Bjornsson, A Ross, MT Moore, GE Stanier, P
Citation: C. Braybrook et al., Physical and transcriptional mapping of the X-linked cleft palate and ankyloglossia (CPX) critical region, HUM GENET, 108(6), 2001, pp. 537-545
Lack of mutations in ZIC3 in three families with neural tube defects
Authors: Carrel, T Herman, GE Moore, GE Stanier, P
Citation: T. Carrel et al., Lack of mutations in ZIC3 in three families with neural tube defects, AM J MED G, 98(3), 2001, pp. 283-285
Evidence that insulin is imprinted in the human yolk sac
Authors: Moore, GE Abu-Amero, SN Bell, G Wakeling, EL Kingsnorth, A Stanier, P Jauniaux, E Bennett, ST
Citation: Ge. Moore et al., Evidence that insulin is imprinted in the human yolk sac, DIABETES, 50(1), 2001, pp. 199-203
Conflicting reports of imprinting status of human GRB10 in developing brain: How reliable are somatic cell hybrids for predicting allelic origin of expression?
Authors: Mergenthaler, S Hitchins, MP Blagitko-Dorfs, N Monk, D Wollmann, HA Ranke, MB Ropers, HH Apostolidou, S Stanier, P Preece, MA Eggermann, T Kalscheuer, VM Moore, GE
Citation: S. Mergenthaler et al., Conflicting reports of imprinting status of human GRB10 in developing brain: How reliable are somatic cell hybrids for predicting allelic origin of expression?, AM J HU GEN, 68(2), 2001, pp. 543-544
Silver-Russell syndrome and ring chromosome 7
Authors: Wakeling, EL Hitchins, M Stanier, P Monk, D Moore, GE Preece, MA
Citation: El. Wakeling et al., Silver-Russell syndrome and ring chromosome 7, J MED GENET, 37(5), 2000, pp. 380-380
Biallelic expression of IGFBP1 and IGFBP3, two candidate genes for the Silver-Russell syndrome
Authors: Wakeling, EL Hitchins, MP Abu-Amero, SN Stanier, P Moore, GE Preece, MA
Citation: El. Wakeling et al., Biallelic expression of IGFBP1 and IGFBP3, two candidate genes for the Silver-Russell syndrome, J MED GENET, 37(1), 2000, pp. 65-67
Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome
Authors: Monk, D Wakeling, EL Proud, V Hitchins, M Abu-Amero, SN Stanier, P Preece, MA Moore, GE
Citation: D. Monk et al., Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome, AM J HU GEN, 66(1), 2000, pp. 36-46
New PCR primers for the sensitive detection and specific identification ofGroup B beta-hemolytic streptococci in cerebrospinal fluid
Authors: Ahmet, Z Stanier, P Harvey, D Holt, D
Citation: Z. Ahmet et al., New PCR primers for the sensitive detection and specific identification ofGroup B beta-hemolytic streptococci in cerebrospinal fluid, MOL CELL PR, 13(5), 1999, pp. 349-357
Physical and transcriptional map of a 3-Mb region of mouse chromosome 1 containing the gene for the neural tube defect mutant loop-tail (Lp)
Authors: Eddleston, J Murdoch, JN Copp, AJ Stanier, P
Citation: J. Eddleston et al., Physical and transcriptional map of a 3-Mb region of mouse chromosome 1 containing the gene for the neural tube defect mutant loop-tail (Lp), GENOMICS, 56(2), 1999, pp. 149-159
The search for the gene for Silver-Russell syndrome
Authors: Moore, GE Abu-Amero, S Wakeling, E Hitchins, M Monk, D Stanier, P Preece, M
Citation: Ge. Moore et al., The search for the gene for Silver-Russell syndrome, ACT PAEDIAT, 88, 1999, pp. 42-48
Sequence and expression analysis of Nhlh1: A basic helix-loop-helix gene implicated in neurogenesis
Authors: Murdoch, JN Eddleston, J Leblond-Bourget, N Stanier, P Copp, AJ
Citation: Jn. Murdoch et al., Sequence and expression analysis of Nhlh1: A basic helix-loop-helix gene implicated in neurogenesis, DEV GENET, 24(1-2), 1999, pp. 165-177
An analysis of the distribution of hetero- and isodisomic regions of chromosome 7 in five mUPD7 Silver-Russell syndrome probands
Authors: Preece, MA Abu-Amero, SN Ali, Z Abu-Amero, KK Wakeling, EL Stanier, P Moore, GE
Citation: Ma. Preece et al., An analysis of the distribution of hetero- and isodisomic regions of chromosome 7 in five mUPD7 Silver-Russell syndrome probands, J MED GENET, 36(6), 1999, pp. 457-460
An analysis of common isodisomic regions in five mUPD 16 probands
Authors: Abu-Amero, SN Ali, Z Abu-Amero, KK Stanier, P Moore, GE
Citation: Sn. Abu-amero et al., An analysis of common isodisomic regions in five mUPD 16 probands, J MED GENET, 36(3), 1999, pp. 204-207
Risultati: 1-19 |