Desguerre I - Search Results

1

[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.

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

[Cervical intraspinal enterogenous cyst: a rare cause of neonatal syncope].

Languepin J, Daoud P, Desguerre I. Languepin J, et al. Among authors: desguerre i. Arch Pediatr. 1994 Jan;1(1):54-6. Arch Pediatr. 1994. PMID: 8087222 French.

6

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

7

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.

8

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

9

Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22.

des Portes V, Pinard JM, Smadja D, Motte J, Boespflüg-Tanguy O, Moutard ML, Desguerre I, Billuart P, Carrie A, Bienvenu T, Vinet MC, Bachner L, Beldjord C, Dulac O, Kahn A, Ponsot G, Chelly J. des Portes V, et al. Among authors: desguerre i. J Med Genet. 1997 Mar;34(3):177-83. doi: 10.1136/jmg.34.3.177. J Med Genet. 1997. PMID: 9132485 Free PMC article.

10

Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1 alpha deficiency.

Marsac C, Benelli C, Desguerre I, Diry M, Fouque F, De Meirleir L, Ponsot G, Seneca S, Poggi F, Saudubray JM, Zabot MT, Fontan D, Lissens W. Marsac C, et al. Among authors: desguerre i. Hum Genet. 1997 Jun;99(6):785-92. doi: 10.1007/s004390050449. Hum Genet. 1997. PMID: 9187674

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