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Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.
Amiel J, Laudier B, Attié-Bitach T, Trang H, de Pontual L, Gener B, Trochet D, Etchevers H, Ray P, Simonneau M, Vekemans M, Munnich A, Gaultier C, Lyonnet S. Amiel J, et al. Among authors: munnich a. Nat Genet. 2003 Apr;33(4):459-61. doi: 10.1038/ng1130. Epub 2003 Mar 17. Nat Genet. 2003. PMID: 12640453
Thus, we regarded its human ortholog, PHOX2B, as a candidate gene in CCHS. We found heterozygous de novo mutations in PHOX2B in 18 of 29 individuals with CCHS. Most mutations consisted of 5-9 alanine expansions within a 20-residue polyalanine tract probably resultin …
Thus, we regarded its human ortholog, PHOX2B, as a candidate gene in CCHS. We found heterozygous de novo mutations in PHOX2B in 18 of …
[Phenotypic expression of 12 mutations of the phenylalanine hydroxylase gene].
Rey F, Abadie V, Lyonnet S, Berthelon M, Caillaud C, Melle D, Labrune P, Saudubray JM, Munnich A, Rey J. Rey F, et al. Among authors: munnich a. Arch Fr Pediatr. 1992 Oct;49(8):705-10. Arch Fr Pediatr. 1992. PMID: 1288453 French.
Only 45 children could be assigned to a phenotype. Mutations leading to total loss of PAH activity were associated with typical PKU (in homozygotes or compound heterozygotes). ...However, description of the biochemical changes combined with identification of the mutation s …
Only 45 children could be assigned to a phenotype. Mutations leading to total loss of PAH activity were associated with typical PKU ( …
Site specific screening for point mutations in ornithine transcarbamylase deficiency.
Feldmann D, Rozet JM, Pelet A, Hentzen D, Briand P, Hubert P, Largilliere C, Rabier D, Farriaux JP, Munnich A. Feldmann D, et al. Among authors: munnich a. J Med Genet. 1992 Jul;29(7):471-5. J Med Genet. 1992. PMID: 1353535 Free PMC article.
Ornithine transcarbamylase (OTC) deficiency is a frequent X linked disorder of the urea cycle which is responsible for lethal neonatal hyperammonaemia in males and for various clinical symptoms in heterozygous females. ...
Ornithine transcarbamylase (OTC) deficiency is a frequent X linked disorder of the urea cycle which is responsible for lethal neonata …
The gene for hereditary multiple exostoses does not map to the Langer-Giedion region (8q23-q24).
Le Merrer M, Ben Othmane K, Stanescu V, Lyonnet S, Van Maldergem L, Royer G, Munnich A, Maroteaux P. Le Merrer M, et al. Among authors: munnich a. J Med Genet. 1992 Oct;29(10):713-5. doi: 10.1136/jmg.29.10.713. J Med Genet. 1992. PMID: 1433231 Free PMC article.
Hereditary multiple exostoses is a dominantly inherited skeletal disorder which alters enchondral bone during growth and is characterised by exostoses of the juxta-epiphyseal regions. ...Multipoint linkage analysis using probes L48, L24, and L1 consistently excluded the HM …
Hereditary multiple exostoses is a dominantly inherited skeletal disorder which alters enchondral bone during growth and is character …
Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia.
Rötig A, Bessis JL, Romero N, Cormier V, Saudubray JM, Narcy P, Lenoir G, Rustin P, Munnich A. Rötig A, et al. Among authors: munnich a. Am J Hum Genet. 1992 Feb;50(2):364-70. Am J Hum Genet. 1992. PMID: 1531167 Free PMC article.
Two sisters in the first year of life presented with a proximal tubulopathy of unknown etiology. They subsequently developed a pluritissular disorder including diabetes mellitus, skin abnormalities, mitochondrial myopathy with ragged-red fibers, and cerebellar ataxi …
Two sisters in the first year of life presented with a proximal tubulopathy of unknown etiology. They subsequently developed a
Blepharophimosis, eczema, and growth and developmental delay in a young adult: late features of Dubowitz syndrome?
Lyonnet S, Schwartz G, Gatin G, de Prost Y, Munnich A, Le Merrer M. Lyonnet S, et al. Among authors: munnich a. J Med Genet. 1992 Jan;29(1):68-9. doi: 10.1136/jmg.29.1.68. J Med Genet. 1992. PMID: 1552551 Free PMC article.
The Dubowitz syndrome is a rare autosomal recessive multiple congenital anomaly/mental retardation syndrome. We report here a case of a young adult presenting with several features consistent with this diagnosis. ...
The Dubowitz syndrome is a rare autosomal recessive multiple congenital anomaly/mental retardation syndrome. We report here a
Two distinct mutations at a single BamHI site in phenylketonuria.
Melle D, Verelst P, Rey F, Berthelon M, François B, Munnich A, Lyonnet S. Melle D, et al. Among authors: munnich a. J Med Genet. 1991 Jan;28(1):38-40. doi: 10.1136/jmg.28.1.38. J Med Genet. 1991. PMID: 1671881 Free PMC article.
Classical phenylketonuria is an autosomal recessive disease caused by a deficiency of hepatic phenylalanine hydroxylase (PAH). ...
Classical phenylketonuria is an autosomal recessive disease caused by a deficiency of hepatic phenylalanine hydroxylase (PAH). ...
Contribution to carrier detection and genetic counselling in X linked retinoschisis.
Kaplan J, Pelet A, Hentati H, Jeanpierre M, Briard ML, Journel H, Munnich A, Dufier JL. Kaplan J, et al. Among authors: munnich a. J Med Genet. 1991 Jun;28(6):383-8. doi: 10.1136/jmg.28.6.383. J Med Genet. 1991. PMID: 1678432 Free PMC article.
X linked retinoschisis (RS) is a vitreoretinal disease resulting from microcystic degeneration of the macula associated with peripheral lesions. ...In order to contribute both to a better localisation of the RS locus and to genetic counselling in RS families, we hav …
X linked retinoschisis (RS) is a vitreoretinal disease resulting from microcystic degeneration of the macula associated with peripher …
Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene.
Hentzen D, Pelet A, Feldman D, Rabier D, Berthelot J, Munnich A. Hentzen D, et al. Among authors: munnich a. Hum Genet. 1991 Dec;88(2):153-6. doi: 10.1007/BF00206063. Hum Genet. 1991. PMID: 1721894
The cosegregation of the trait with a 5.8-kb abnormal MspI fragment in an affected family led us to hypothesize that this unexpected migration pattern was related to the mutation event in this particular family. Using polymerase chain reaction amplification of the specific …
The cosegregation of the trait with a 5.8-kb abnormal MspI fragment in an affected family led us to hypothesize that this unexpected …
Autosomal dominant deletions of the mitochondrial genome in a case of progressive encephalomyopathy.
Cormier V, Rotig A, Tardieu M, Colonna M, Saudubray JM, Munnich A. Cormier V, et al. Among authors: munnich a. Am J Hum Genet. 1991 Apr;48(4):643-8. Am J Hum Genet. 1991. PMID: 2014791 Free PMC article.
Multiple deletions of the mitochondrial genome were found in a family in which the proband had ataxia and ketoacidotic comas. ...Therefore, the deletions appear not to be transmitted per se but to be inherited in a Mendelian manner, being possibly dominant. ...
Multiple deletions of the mitochondrial genome were found in a family in which the proband had ataxia and ketoacidotic comas. ...Ther …
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