Meijers C - Search Results

1

Constipation as the presenting symptom in de novo multiple endocrine neoplasia type 2B.

de Krijger RR, Brooks A, van der Harst E, Hofstra RM, Bruining HA, Molenaar JC, Meijers C. de Krijger RR, et al. Among authors: meijers c. Pediatrics. 1998 Aug;102(2 Pt 1):405-8. doi: 10.1542/peds.102.2.405. Pediatrics. 1998. PMID: 9714654 Free article. No abstract available.

2

A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome).

Brooks AS, Breuning MH, Osinga J, vd Smagt JJ, Catsman CE, Buys CH, Meijers C, Hofstra RM. Brooks AS, et al. Among authors: meijers c. J Med Genet. 1999 Jun;36(6):485-9. J Med Genet. 1999. PMID: 10874640 Free PMC article.

3

Characterization of HNK-1 antigens during the formation of the avian enteric nervous system.

Luider TM, Peters-van der Sanden MJ, Molenaar JC, Tibboel D, van der Kamp AW, Meijers C. Luider TM, et al. Among authors: meijers c. Development. 1992 Jun;115(2):561-72. doi: 10.1242/dev.115.2.561. Development. 1992. PMID: 1385063

4

RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems.

Hofstra RM, Wu Y, Stulp RP, Elfferich P, Osinga J, Maas SM, Siderius L, Brooks AS, vd Ende JJ, Heydendael VM, Severijnen RS, Bax KM, Meijers C, Buys CH. Hofstra RM, et al. Among authors: meijers c. Hum Mutat. 2000;15(5):418-29. doi: 10.1002/(SICI)1098-1004(200005)15:5<418::AID-HUMU3>3.0.CO;2-2. Hum Mutat. 2000. PMID: 10790203

5

Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.

Brooks AS, Bertoli-Avella AM, Burzynski GM, Breedveld GJ, Osinga J, Boven LG, Hurst JA, Mancini GM, Lequin MH, de Coo RF, Matera I, de Graaff E, Meijers C, Willems PJ, Tibboel D, Oostra BA, Hofstra RM. Brooks AS, et al. Among authors: meijers c. Am J Hum Genet. 2005 Jul;77(1):120-6. doi: 10.1086/431244. Epub 2005 May 9. Am J Hum Genet. 2005. PMID: 15883926 Free PMC article.

6

A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome).

Hofstra RM, Osinga J, Tan-Sindhunata G, Wu Y, Kamsteeg EJ, Stulp RP, van Ravenswaaij-Arts C, Majoor-Krakauer D, Angrist M, Chakravarti A, Meijers C, Buys CH. Hofstra RM, et al. Among authors: meijers c. Nat Genet. 1996 Apr;12(4):445-7. doi: 10.1038/ng0496-445. Nat Genet. 1996. PMID: 8630503 Free article.

7

A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction.

Hofstra RM, Valdenaire O, Arch E, Osinga J, Kroes H, Löffler BM, Hamosh A, Meijers C, Buys CH. Hofstra RM, et al. Among authors: meijers c. Am J Hum Genet. 1999 Jan;64(1):304-8. doi: 10.1086/302184. Am J Hum Genet. 1999. PMID: 9915973 Free PMC article. No abstract available.

8

Mutations of UFD1L are not responsible for the majority of cases of DiGeorge Syndrome/velocardiofacial syndrome without deletions within chromosome 22q11.

Wadey R, McKie J, Papapetrou C, Sutherland H, Lohman F, Osinga J, Frohn I, Hofstra R, Meijers C, Amati F, Conti E, Pizzuti A, Dallapiccola B, Novelli G, Scambler P. Wadey R, et al. Among authors: meijers c. Am J Hum Genet. 1999 Jul;65(1):247-9. doi: 10.1086/302468. Am J Hum Genet. 1999. PMID: 10364538 Free PMC article. No abstract available.

9

Regional differences between various axial segments of the avian neural crest regarding the formation of enteric ganglia.

Peters-van der Sanden MJ, Luider TM, van der Kamp AW, Tibboel D, Meijers C. Peters-van der Sanden MJ, et al. Among authors: meijers c. Differentiation. 1993 May;53(1):17-24. doi: 10.1111/j.1432-0436.1993.tb00641.x. Differentiation. 1993. PMID: 7685298

10

The distribution and characterization of HNK-1 antigens in the developing avian heart.

Luider TM, Bravenboer N, Meijers C, van der Kamp AW, Tibboel D, Poelmann RE. Luider TM, et al. Among authors: meijers c. Anat Embryol (Berl). 1993 Sep;188(3):307-16. doi: 10.1007/BF00188221. Anat Embryol (Berl). 1993. PMID: 7504418 Free article.

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