Mancini GM - Search Results

1

Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect.

van de Kamp JM, Pouwels PJ, Aarsen FK, ten Hoopen LW, Knol DL, de Klerk JB, de Coo IF, Huijmans JG, Jakobs C, van der Knaap MS, Salomons GS, Mancini GM. van de Kamp JM, et al. Among authors: mancini gm. J Inherit Metab Dis. 2012 Jan;35(1):141-9. doi: 10.1007/s10545-011-9345-1. Epub 2011 May 10. J Inherit Metab Dis. 2012. PMID: 21556832 Free PMC article.

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

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

5

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

6

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

7

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.

8

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

9

DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands.

Kroes HY, van Zon PH, Fransen van de Putte D, Nelen MR, Nievelstein RJ, Wittebol-Post D, van Nieuwenhuizen O, Mancini GM, van der Knaap MS, Kwee ML, Maas SM, Cobben JM, De Nef JE, Lindhout D, Sinke RJ. Kroes HY, et al. Among authors: mancini gm. Eur J Med Genet. 2008 Jan-Feb;51(1):24-34. doi: 10.1016/j.ejmg.2007.10.001. Epub 2007 Oct 6. Eur J Med Genet. 2008. PMID: 18054307

10

Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency.

Betsalel OT, van de Kamp JM, Martínez-Muñoz C, Rosenberg EH, de Brouwer AP, Pouwels PJ, van der Knaap MS, Mancini GM, Jakobs C, Hamel BC, Salomons GS. Betsalel OT, et al. Among authors: mancini gm. Neurogenetics. 2008 Jul;9(3):183-90. doi: 10.1007/s10048-008-0125-5. Epub 2008 Mar 19. Neurogenetics. 2008. PMID: 18350323

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