Seidel J - Search Results

1

DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.

O'Driscoll M, Cerosaletti KM, Girard PM, Dai Y, Stumm M, Kysela B, Hirsch B, Gennery A, Palmer SE, Seidel J, Gatti RA, Varon R, Oettinger MA, Neitzel H, Jeggo PA, Concannon P. O'Driscoll M, et al. Among authors: seidel j. Mol Cell. 2001 Dec;8(6):1175-85. doi: 10.1016/s1097-2765(01)00408-7. Mol Cell. 2001. PMID: 11779494 Free article.

2

An overview of three new disorders associated with genetic instability: LIG4 syndrome, RS-SCID and ATR-Seckel syndrome.

O'Driscoll M, Gennery AR, Seidel J, Concannon P, Jeggo PA. O'Driscoll M, et al. Among authors: seidel j. DNA Repair (Amst). 2004 Aug-Sep;3(8-9):1227-35. doi: 10.1016/j.dnarep.2004.03.025. DNA Repair (Amst). 2004. PMID: 15279811 Review.

3

Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure.

Gruhn B, Seidel J, Zintl F, Varon R, Tönnies H, Neitzel H, Bechtold A, Hoehn H, Schindler D. Gruhn B, et al. Among authors: seidel j. Orphanet J Rare Dis. 2007 Jan 15;2:5. doi: 10.1186/1750-1172-2-5. Orphanet J Rare Dis. 2007. PMID: 17224058 Free PMC article.

4

Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients.

Gao HZ, Kobayashi K, Tabata A, Tsuge H, Iijima M, Yasuda T, Kalkanoglu HS, Dursun A, Tokatli A, Coskun T, Trefz FK, Skladal D, Mandel H, Seidel J, Kodama S, Shirane S, Ichida T, Makino S, Yoshino M, Kang JH, Mizuguchi M, Barshop BA, Fuchinoue S, Seneca S, Zeesman S, Knerr I, Rodés M, Wasant P, Yoshida I, De Meirleir L, Abdul Jalil M, Begum L, Horiuchi M, Katunuma N, Nakagawa S, Saheki T. Gao HZ, et al. Among authors: seidel j. Hum Mutat. 2003 Jul;22(1):24-34. doi: 10.1002/humu.10230. Hum Mutat. 2003. PMID: 12815590

5

Dietary long-chain polyunsaturated fatty acid supplementation in infants with phenylketonuria: a randomized controlled trial.

Koletzko B, Sauerwald T, Demmelmair H, Herzog M, von Schenck U, Böhles H, Wendel U, Seidel J. Koletzko B, et al. Among authors: seidel j. J Inherit Metab Dis. 2007 Jun;30(3):326-32. doi: 10.1007/s10545-007-0491-4. Epub 2007 Apr 12. J Inherit Metab Dis. 2007. PMID: 17431817 Clinical Trial.

6

Phenylketonuria and hyperphenylalaninemia in eastern Germany: a characteristic molecular profile and 15 novel mutations.

Hennermann JB, Vetter B, Wolf C, Windt E, Bührdel P, Seidel J, Mönch E, Kulozik AE. Hennermann JB, et al. Among authors: seidel j. Hum Mutat. 2000;15(3):254-60. doi: 10.1002/(SICI)1098-1004(200003)15:3<254::AID-HUMU6>3.0.CO;2-W. Hum Mutat. 2000. PMID: 10679941

7

A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype.

Cundy T, Hegde M, Naot D, Chong B, King A, Wallace R, Mulley J, Love DR, Seidel J, Fawkner M, Banovic T, Callon KE, Grey AB, Reid IR, Middleton-Hardie CA, Cornish J. Cundy T, et al. Among authors: seidel j. Hum Mol Genet. 2002 Sep 1;11(18):2119-27. doi: 10.1093/hmg/11.18.2119. Hum Mol Genet. 2002. PMID: 12189164

8

Idiopathic hyperphosphatasia and TNFRSF11B mutations: relationships between phenotype and genotype.

Chong B, Hegde M, Fawkner M, Simonet S, Cassinelli H, Coker M, Kanis J, Seidel J, Tau C, Tüysüz B, Yüksel B, Love D; International Hyperphosphatasia Collaborative Group. Chong B, et al. Among authors: seidel j. J Bone Miner Res. 2003 Dec;18(12):2095-104. doi: 10.1359/jbmr.2003.18.12.2095. J Bone Miner Res. 2003. PMID: 14672344 Free article.

9

DHPLC mutation analysis of phenylketonuria.

Bräutigam S, Kujat A, Kirst P, Seidel J, Lüleyap HU, Froster UG. Bräutigam S, et al. Among authors: seidel j. Mol Genet Metab. 2003 Mar;78(3):205-10. doi: 10.1016/s1096-7192(02)00228-7. Mol Genet Metab. 2003. PMID: 12649065

10

Childhood overgrowth in patients with common NF1 microdeletions.

Spiegel M, Oexle K, Horn D, Windt E, Buske A, Albrecht B, Prott EC, Seemanová E, Seidel J, Rosenbaum T, Jenne D, Kehrer-Sawatzki H, Tinschert S. Spiegel M, et al. Among authors: seidel j. Eur J Hum Genet. 2005 Jul;13(7):883-8. doi: 10.1038/sj.ejhg.5201419. Eur J Hum Genet. 2005. PMID: 15856072

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