Desguerre I - Search Results

1

Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis.

Barnerias C, Saudubray JM, Touati G, De Lonlay P, Dulac O, Ponsot G, Marsac C, Brivet M, Desguerre I. Barnerias C, et al. Among authors: desguerre i. Dev Med Child Neurol. 2010 Feb;52(2):e1-9. doi: 10.1111/j.1469-8749.2009.03541.x. Epub 2009 Dec 1. Dev Med Child Neurol. 2010. PMID: 20002125 Free article.

2

Lesch-Nyhan syndrome in a girl.

van Bogaert P, Ceballos I, Desguerre I, Telvi L, Kamoun P, Ponsot G. van Bogaert P, et al. Among authors: desguerre i. J Inherit Metab Dis. 1992;15(5):790-1. doi: 10.1007/BF01800022. J Inherit Metab Dis. 1992. PMID: 1434518 No abstract available.

3

[Subcortical laminar heterotopia and lissencephaly: brain malformations with X-linked dominant heredity?].

Pinard JM, Desguerre I, Motte J, Dulac O, Ponsot G. Pinard JM, et al. Among authors: desguerre i. Arch Pediatr. 1995 May;2(5):493-4. doi: 10.1016/0929-693x(96)81189-4. Arch Pediatr. 1995. PMID: 7640746 French. No abstract available.

4

[Subcortical laminal heterotopia and lissencephaly: cerebral malformations of X-linked inheritance].

Pinard JM, Desguerre I, Motte J, Dulac O, Ponsot G. Pinard JM, et al. Among authors: desguerre i. Rev Neurol (Paris). 1995 Mar;151(3):171-6. Rev Neurol (Paris). 1995. PMID: 7676153 Review. French.

5

Pyruvate dehydrogenase deficiency in a female due to a 4 base pair deletion in exon 10 of the E1 alpha gene.

Lissens W, Desguerre I, Benelli C, Marsac C, Fouque F, Haenggeli C, Ponsot G, Seneca S, Liebaers I, De Meirleir L. Lissens W, et al. Among authors: desguerre i. Hum Mol Genet. 1995 Feb;4(2):307-8. doi: 10.1093/hmg/4.2.307. Hum Mol Genet. 1995. PMID: 7757085 No abstract available.

6

Aberrant splicing of exon 6 in the pyruvate dehydrogenase-E1 alpha mRNA linked to a silent mutation in a large family with Leigh's encephalomyelopathy.

De Meirleir L, Lissens W, Benelli C, Ponsot G, Desguerre I, Marsac C, Rodriguez D, Saudubray JM, Poggi F, Liebaers I. De Meirleir L, et al. Among authors: desguerre i. Pediatr Res. 1994 Dec;36(6):707-12. doi: 10.1203/00006450-199412000-00004. Pediatr Res. 1994. PMID: 7898978

7

[Acquired cerebral toxoplasmosis in an non-immunosuppressed child].

Desguerre I, Pedespan JM, Buissonnière R, Couvreur J, Ponsot G. Desguerre I, et al. Arch Fr Pediatr. 1993 Apr;50(4):339-42. Arch Fr Pediatr. 1993. PMID: 8379823 French.

8

Clinical, biochemical, and molecular analysis of a maternally inherited case of Leigh syndrome (MILS) associated with the mtDNA T8993G point mutation.

Degoul F, Diry M, Rodriguez D, Robain O, Francois D, Ponsot G, Marsac C, Desguerre I. Degoul F, et al. Among authors: desguerre i. J Inherit Metab Dis. 1995;18(6):682-8. doi: 10.1007/BF02436757. J Inherit Metab Dis. 1995. PMID: 8750605

9

A duplication of distal Xp associated with hypogonadotrophic hypogonadism, hypoplastic external genitalia, mental retardation, and multiple congenital abnormalities.

Telvi L, Ion A, Carel JC, Desguerre I, Piraud M, Boutin AM, Feingold J, Ponsot G, Fellous M, McElreavey K. Telvi L, et al. Among authors: desguerre i. J Med Genet. 1996 Sep;33(9):767-71. doi: 10.1136/jmg.33.9.767. J Med Genet. 1996. PMID: 8880579 Free PMC article.

10

A near homoplasmic T8993G mtDNA mutation in a patient with atypic Leigh syndrome not present in the mother's tissues.

Degoul F, François D, Diry M, Ponsot G, Desguerre I, Héron B, Marsac C, Moutard ML. Degoul F, et al. Among authors: desguerre i. J Inherit Metab Dis. 1997 Mar;20(1):49-53. doi: 10.1023/a:1005357506614. J Inherit Metab Dis. 1997. PMID: 9061567

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