Investigation of the Candidate Region for Trigonocephaly in a Patient With Monosomy 9p Syndrome Using Array-CGH

[1] Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome:: paternal deletion of the epsilon-sarcoglycan (SGCE) gene [J]. JOURNAL OF HUMAN GENETICS, 2008, 53 (10) : 876 - 885

[2] Opitz trigonocephaly C syndrome in a boy with a de novo balanced reciprocal translocation t(3;18)(q13.13;q12.1) [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2006, 140A (15) : 1655 - 1657

[3] Chromosome breakage hotspots and delineation of the critical region for the 9p-deletion syndrome [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (05) : 1387 - 1395

[4] Further refinement of the candidate region for monosomy 9p syndrome [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2007, 143A (19) : 2353 - 2356

[5] Hauge XY, 2008, GENET MED, V10, P599, DOI 10.1097GIM.0b013e31817e2bde

[6] Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients [J]. CLEFT PALATE-CRANIOFACIAL JOURNAL, 2006, 43 (02) : 148 - 151

[7] Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2007, 81 (04) : 835 - 841

[8] Narrowing candidate region for monosomy 9p syndrome to a 4.7-Mb segment at 9p22.2-p23 [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2006, 140A (04) : 373 - 377

[9] PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome [J]. NATURE GENETICS, 2008, 40 (08) : 946 - 948

[10] Shapira SK, 1997, AM J MED GENET, V69, P360, DOI 10.1002/(SICI)1096-8628(19970414)69:4<360::AID-AJMG5>3.0.CO

[1] Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome:: paternal deletion of the epsilon-sarcoglycan (SGCE) gene [J]. JOURNAL OF HUMAN GENETICS, 2008, 53 (10) : 876 - 885

[2] Opitz trigonocephaly C syndrome in a boy with a de novo balanced reciprocal translocation t(3;18)(q13.13;q12.1) [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2006, 140A (15) : 1655 - 1657

[3] Chromosome breakage hotspots and delineation of the critical region for the 9p-deletion syndrome [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (05) : 1387 - 1395

[4] Further refinement of the candidate region for monosomy 9p syndrome [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2007, 143A (19) : 2353 - 2356

[5] Hauge XY, 2008, GENET MED, V10, P599, DOI 10.1097GIM.0b013e31817e2bde

[6] Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients [J]. CLEFT PALATE-CRANIOFACIAL JOURNAL, 2006, 43 (02) : 148 - 151

[7] Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2007, 81 (04) : 835 - 841

[8] Narrowing candidate region for monosomy 9p syndrome to a 4.7-Mb segment at 9p22.2-p23 [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2006, 140A (04) : 373 - 377

[9] PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome [J]. NATURE GENETICS, 2008, 40 (08) : 946 - 948

[10] Shapira SK, 1997, AM J MED GENET, V69, P360, DOI 10.1002/(SICI)1096-8628(19970414)69:4<360::AID-AJMG5>3.0.CO