Mancini GM - Search Results

1

Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families.

Mancini GM, Catsman-Berrevoets CE, de Coo IF, Aarsen FK, Kamphoven JH, Huijmans JG, Duran M, van der Knaap MS, Jakobs C, Salomons GS. Mancini GM, et al. Am J Med Genet A. 2005 Jan 30;132A(3):288-95. doi: 10.1002/ajmg.a.30473. Am J Med Genet A. 2005. PMID: 15690373

2

Sudden infant death and lysinuric protein intolerance.

de Klerk JB, Duran M, Huijmans JG, Mancini GM. de Klerk JB, et al. Among authors: mancini gm. Eur J Pediatr. 1996 Mar;155(3):256-7. doi: 10.1007/BF01953953. Eur J Pediatr. 1996. PMID: 8929742 No abstract available.

3

Juvenile hyaline fibromatosis: clinical heterogeneity in three patients.

Mancini GM, Stojanov L, Willemsen R, Kleijer WJ, Huijmans JG, van Diggelen OP, de Klerk JB, Vuzevski VD, Oranje AP. Mancini GM, et al. Dermatology. 1999;198(1):18-25. doi: 10.1159/000018058. Dermatology. 1999. PMID: 10026396

4

A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants.

Voznyi YV, Keulemans JL, Mancini GM, Catsman-Berrevoets CE, Young E, Winchester B, Kleijer WJ, van Diggelen OP. Voznyi YV, et al. Among authors: mancini gm. J Med Genet. 1999 Jun;36(6):471-4. J Med Genet. 1999. PMID: 10874636 Free PMC article.

5

Pitfalls in the diagnosis of multiple sulfatase deficiency.

Mancini GM, van Diggelen OP, Huijmans JG, Stroink H, de Coo RF. Mancini GM, et al. Neuropediatrics. 2001 Feb;32(1):38-40. doi: 10.1055/s-2001-12213. Neuropediatrics. 2001. PMID: 11315200

6

Hereditary porencephaly: clinical and MRI findings in two Dutch families.

Mancini GM, de Coo IF, Lequin MH, Arts WF. Mancini GM, et al. Eur J Paediatr Neurol. 2004;8(1):45-54. doi: 10.1016/j.ejpn.2003.10.002. Eur J Paediatr Neurol. 2004. PMID: 15023374

7

Three new families with arterial tortuosity syndrome.

Wessels MW, Catsman-Berrevoets CE, Mancini GM, Breuning MH, Hoogeboom JJ, Stroink H, Frohn-Mulder I, Coucke PJ, Paepe AD, Niermeijer MF, Willems PJ. Wessels MW, et al. Among authors: mancini gm. Am J Med Genet A. 2004 Dec 1;131(2):134-43. doi: 10.1002/ajmg.a.30272. Am J Med Genet A. 2004. PMID: 15529317

8

Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.

Breedveld G, de Coo IF, Lequin MH, Arts WF, Heutink P, Gould DB, John SW, Oostra B, Mancini GM. Breedveld G, et al. Among authors: mancini gm. J Med Genet. 2006 Jun;43(6):490-5. doi: 10.1136/jmg.2005.035584. Epub 2005 Aug 17. J Med Genet. 2006. PMID: 16107487 Free PMC article.

9

Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency.

de Wit MC, de Coo IF, Verbeek E, Schot R, Schoonderwoerd GC, Duran M, de Klerk JB, Huijmans JG, Lequin MH, Verheijen FW, Mancini GM. de Wit MC, et al. Among authors: mancini gm. Mol Genet Metab. 2006 Feb;87(2):102-6. doi: 10.1016/j.ymgme.2005.09.009. Epub 2005 Nov 4. Mol Genet Metab. 2006. PMID: 16275149

10

Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus.

de Wit MC, de Coo IF, Julier C, Delépine M, Lequin MH, van de Laar I, Sibbles BJ, Bruining GJ, Mancini GM. de Wit MC, et al. Among authors: mancini gm. Neurogenetics. 2006 Nov;7(4):259-63. doi: 10.1007/s10048-006-0061-1. Epub 2006 Sep 14. Neurogenetics. 2006. PMID: 16972080

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