Jaeken J - Search Results

1

Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).

Matthijs G, Schollen E, Pardon E, Veiga-Da-Cunha M, Jaeken J, Cassiman JJ, Van Schaftingen E. Matthijs G, et al. Among authors: jaeken j. Nat Genet. 1997 May;16(1):88-92. doi: 10.1038/ng0597-88. Nat Genet. 1997. PMID: 9140401

2

A mutation in adenylosuccinate lyase associated with mental retardation and autistic features.

Stone RL, Aimi J, Barshop BA, Jaeken J, Van den Berghe G, Zalkin H, Dixon JE. Stone RL, et al. Among authors: jaeken j. Nat Genet. 1992 Apr;1(1):59-63. doi: 10.1038/ng0492-59. Nat Genet. 1992. PMID: 1302001

3

The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement.

Jaeken J, Stibler H, Hagberg B. Jaeken J, et al. Acta Paediatr Scand Suppl. 1991;375:1-71. Acta Paediatr Scand Suppl. 1991. PMID: 1720595 Review. No abstract available.

4

Restrictive dermopathy with distinct morphological abnormalities.

Van Hoestenberghe M, Legius E, Vandevoorde W, Eykens A, Jaeken J, Eggermont E, Devos R, De Wolf-Peeters C, Fryns JP. Van Hoestenberghe M, et al. Among authors: jaeken j. Am J Med Genet. 1990 Jul;36(3):297-300. doi: 10.1002/ajmg.1320360310. Am J Med Genet. 1990. PMID: 2363426

5

Mosaic 13 trisomy due to de novo 13/13 translocation with subsequent fission. Karyotype: 46,XX,-13, +t(13;13)(p11;q11)/46,XX,del(13)(p11). A second example.

Fryns JP, Kleczkowska A, Jaeken J, Van Herck K, Van den Berghe MH. Fryns JP, et al. Among authors: jaeken j. Ann Genet. 1989;32(3):177-9. Ann Genet. 1989. PMID: 2486064

6

Trisomy 3q2 and Pierre-Robin sequence in a boy with unbalanced 46,XY, der(10), t(3;10)(q23;q26.3) de novo karyotype.

Kleczkowska A, Fryns JP, Moerman F, Martens M, Eggermont E, Jaeken J, Van den Berghe H. Kleczkowska A, et al. Among authors: jaeken j. Helv Paediatr Acta. 1988 Nov;43(3):245-8. Helv Paediatr Acta. 1988. PMID: 3220792

7

Ring chromosome 4 mosaicism and Potter sequence.

Fryns JP, Kleczkowska A, Jaeken J, Van den Berghe H. Fryns JP, et al. Among authors: jaeken j. Ann Genet. 1988;31(2):120-2. Ann Genet. 1988. PMID: 3261147

8

Complex chromosomal rearrangement involving chromosomes 11, 13 and 21.

Kleczkowska A, Fryns JP, Jaeken J, Van den Berghe H. Kleczkowska A, et al. Among authors: jaeken j. Ann Genet. 1988;31(2):126-8. Ann Genet. 1988. PMID: 3261149

9

Endocrinology of the carbohydrate-deficient glycoprotein syndrome type 1 from birth through adolescence.

de Zegher F, Jaeken J. de Zegher F, et al. Among authors: jaeken j. Pediatr Res. 1995 Apr;37(4 Pt 1):395-401. doi: 10.1203/00006450-199504000-00003. Pediatr Res. 1995. PMID: 7596677

10

Genetic and clinical heterogeneity in hypoxanthine phosphoribosyltransferase deficiencies.

Burgemeister R, Gutensohn W, Van den Berghe G, Jaeken J. Burgemeister R, et al. Among authors: jaeken j. Adv Exp Med Biol. 1994;370:331-5. doi: 10.1007/978-1-4615-2584-4_71. Adv Exp Med Biol. 1994. PMID: 7660921 No abstract available.

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