Plomp AS - Search Results

1

Pfeiffer syndrome type 2: further delineation and review of the literature.

Plomp AS, Hamel BC, Cobben JM, Verloes A, Offermans JP, Lajeunie E, Fryns JP, de Die-Smulders CE. Plomp AS, et al. Am J Med Genet. 1998 Jan 23;75(3):245-51. Am J Med Genet. 1998. PMID: 9475590 Review.

2

Interstitial deletion of the short arm of chromosome 8: report of a patient and review of the literature.

Plomp AS, Schrander-Stumpel CT, Engelen JJ, Sijstermans JM, Loneus WH, Fryns JP. Plomp AS, et al. Genet Couns. 1995;6(1):55-60. Genet Couns. 1995. PMID: 7794563 Review.

3

Coffin-Lowry syndrome: clinical aspects at different ages and symptoms in female carriers.

Plomp AS, De Die-Smulders CE, Meinecke P, Ypma-Verhulst JM, Lissone DA, Fryns JP. Plomp AS, et al. Genet Couns. 1995;6(3):259-68. Genet Couns. 1995. PMID: 8588856

4

Characterization of a de novo unbalanced translocation t(14q18q) using microdissection and fluorescence in situ hybridization.

Engelen JJ, Loots WJ, Albrechts JC, Plomp AS, van der Meer SB, Vles JS, Hamers GJ, Geraedts JP. Engelen JJ, et al. Among authors: plomp as. Am J Med Genet. 1998 Feb 3;75(4):409-13. Am J Med Genet. 1998. PMID: 9482648

5

Two cases of partial trisomy 8p and partial monosomy 21q in a family with a reciprocal translocation (8;21)(p21.1;q22.3).

Plomp AS, Engelen JJ, Albrechts JC, de Die-Smulders CE, Hamers AJ. Plomp AS, et al. J Med Genet. 1998 Jul;35(7):604-8. doi: 10.1136/jmg.35.7.604. J Med Genet. 1998. PMID: 9678708 Free PMC article. Review.

6

Severe microcephaly, choreiform movements, cataracts and sensorineural deafness in two patients: a new syndrome?

Plomp AS, Baraitser M, Slaney SF, Winter RM. Plomp AS, et al. Clin Dysmorphol. 2000 Jan;9(1):11-4. doi: 10.1097/00019605-200009010-00002. Clin Dysmorphol. 2000. PMID: 10649790

7

An unknown combination of infantile spasms, retinal lesions, facial dysmorphism and limb abnormalities.

Plomp AS, Reardon W, Benton S, Taylor D, Larcher VF, Sundrum R, Winter RM. Plomp AS, et al. Clin Dysmorphol. 2000 Jul;9(3):189-92. doi: 10.1097/00019605-200009030-00007. Clin Dysmorphol. 2000. PMID: 10955479

8

Does autosomal dominant pseudoxanthoma elasticum exist?

Plomp AS, Hu X, de Jong PT, Bergen AA. Plomp AS, et al. Am J Med Genet A. 2004 May 1;126A(4):403-12. doi: 10.1002/ajmg.a.20632. Am J Med Genet A. 2004. PMID: 15098239 Review.

9

Influence of mutation type on clinical expression of Leber hereditary optic neuropathy.

Spruijt L, Kolbach DN, de Coo RF, Plomp AS, Bauer NJ, Smeets HJ, de Die-Smulders CE. Spruijt L, et al. Among authors: plomp as. Am J Ophthalmol. 2006 Apr;141(4):676-82. doi: 10.1016/j.ajo.2005.11.007. Am J Ophthalmol. 2006. PMID: 16564802

10

Germline mutation of INI1/SMARCB1 in familial schwannomatosis.

Hulsebos TJ, Plomp AS, Wolterman RA, Robanus-Maandag EC, Baas F, Wesseling P. Hulsebos TJ, et al. Among authors: plomp as. Am J Hum Genet. 2007 Apr;80(4):805-10. doi: 10.1086/513207. Epub 2007 Feb 16. Am J Hum Genet. 2007. PMID: 17357086 Free PMC article.

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