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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: de pontual l. Nat Genet. 2003 Apr;33(4):459-61. doi: 10.1038/ng1130. Epub 2003 Mar 17. Nat Genet. 2003. PMID: 12640453
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 resulting from non-homologous recombination. ...
We found heterozygous de novo mutations in PHOX2B in 18 of 29 individuals with CCHS. Most mutations consisted of 5-9 alanine expansio …
Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans.
de Pontual L, Yao E, Callier P, Faivre L, Drouin V, Cariou S, Van Haeringen A, Geneviève D, Goldenberg A, Oufadem M, Manouvrier S, Munnich A, Vidigal JA, Vekemans M, Lyonnet S, Henrion-Caude A, Ventura A, Amiel J. de Pontual L, et al. Nat Genet. 2011 Sep 4;43(10):1026-30. doi: 10.1038/ng.915. Nat Genet. 2011. PMID: 21892160 Free PMC article.
Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia.
Cognet M, Nougayrede A, Malan V, Callier P, Cretolle C, Faivre L, Genevieve D, Goldenberg A, Heron D, Mercier S, Philip N, Sigaudy S, Verloes A, Sarnacki S, Munnich A, Vekemans M, Lyonnet S, Etchevers H, Amiel J, de Pontual L. Cognet M, et al. Among authors: de pontual l. Eur J Hum Genet. 2011 May;19(5):602-6. doi: 10.1038/ejhg.2010.225. Epub 2011 Jan 12. Eur J Hum Genet. 2011. PMID: 21224895 Free PMC article.
Germline gain-of-function mutations of ALK disrupt central nervous system development.
de Pontual L, Kettaneh D, Gordon CT, Oufadem M, Boddaert N, Lees M, Balu L, Lachassinne E, Petros A, Mollet J, Wilson LC, Munnich A, Brugière L, Delattre O, Vekemans M, Etchevers H, Lyonnet S, Janoueix-Lerosey I, Amiel J. de Pontual L, et al. Hum Mutat. 2011 Mar;32(3):272-6. doi: 10.1002/humu.21442. Hum Mutat. 2011. PMID: 21972109
Here we report a novel syndromic presentation associating congenital NB with severe encephalopathy and abnormal shape of the brainstem on brain MRI in two unrelated sporadic cases harboring de novo, germline, heterozygous ALK gene mutations. ...
Here we report a novel syndromic presentation associating congenital NB with severe encephalopathy and abnormal shape of the brainstem on br …
Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.
de Pontual L, Mathieu Y, Golzio C, Rio M, Malan V, Boddaert N, Soufflet C, Picard C, Durandy A, Dobbie A, Heron D, Isidor B, Motte J, Newburry-Ecob R, Pasquier L, Tardieu M, Viot G, Jaubert F, Munnich A, Colleaux L, Vekemans M, Etchevers H, Lyonnet S, Amiel J. de Pontual L, et al. Hum Mutat. 2009 Apr;30(4):669-76. doi: 10.1002/humu.20935. Hum Mutat. 2009. PMID: 19235238
Pitt-Hopkins syndrome is a severe congenital encephalopathy recently ascribed to de novo heterozygous TCF4 gene mutations. We report a series of 13 novel PHS cases with a TCF4 mutation and show that EEG, brain magnetic resonance imagain (MRI), and immunological investigati …
Pitt-Hopkins syndrome is a severe congenital encephalopathy recently ascribed to de novo heterozygous TCF4 gene mutations. We report …
Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse).
Trochet D, de Pontual L, Estêvao MH, Mathieu Y, Munnich A, Feingold J, Goridis C, Lyonnet S, Amiel J. Trochet D, et al. Among authors: de pontual l. Hum Mutat. 2008 May;29(5):770. doi: 10.1002/humu.20727. Hum Mutat. 2008. PMID: 18407552
Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma.
Janoueix-Lerosey I, Lequin D, Brugières L, Ribeiro A, de Pontual L, Combaret V, Raynal V, Puisieux A, Schleiermacher G, Pierron G, Valteau-Couanet D, Frebourg T, Michon J, Lyonnet S, Amiel J, Delattre O. Janoueix-Lerosey I, et al. Among authors: de pontual l. Nature. 2008 Oct 16;455(7215):967-70. doi: 10.1038/nature07398. Nature. 2008. PMID: 18923523
Cholinergic switch associated with morphological differentiation in neuroblastoma.
Bourdeaut F, Janoueix-Lerosey I, Lucchesi C, Paris R, Ribeiro A, de Pontual L, Amiel J, Lyonnet S, Pierron G, Michon J, Peuchmaur M, Delattre O. Bourdeaut F, et al. Among authors: de pontual l. J Pathol. 2009 Dec;219(4):463-72. doi: 10.1002/path.2614. J Pathol. 2009. PMID: 19768740
Multiple congenital anomalies-intellectual disability (MCA-ID) and neuroblastoma in a patient harboring a de novo 14q23.1q23.3 deletion.
Lehalle D, Sanlaville D, Guimier A, Plouvier E, Leblanc T, Galmiche L, Radford I, Romana S, Colleaux L, de Pontual L, Lyonnet S, Amiel J. Lehalle D, et al. Among authors: de pontual l. Am J Med Genet A. 2014 May;164A(5):1310-7. doi: 10.1002/ajmg.a.36452. Epub 2014 Mar 24. Am J Med Genet A. 2014. PMID: 24665034 Review.
Here, we report on a de novo 14q23.1-q23.3 microdeletion in a male presenting with a neuroblastoma diagnosed at 9 months, and spherocytosis, congenital heart defect, cryptorchidism, hypoplasia of corpus callosum, epilepsy, and developmental delay. ...
Here, we report on a de novo 14q23.1-q23.3 microdeletion in a male presenting with a neuroblastoma diagnosed at 9 months, and spheroc …
Delineation of late onset hypoventilation associated with hypothalamic dysfunction syndrome.
De Pontual L, Trochet D, Caillat-Zucman S, Abou Shenab OA, Bougneres P, Crow Y, Cunningham S, Esteva B, Heberle LC, Leger J, Pinto G, Polak M, Shafik MH, Straus C, Trang H, Munnich A, Lyonnet S, Desguerre I, Amiel J. De Pontual L, et al. Pediatr Res. 2008 Dec;64(6):689-94. doi: 10.1203/PDR.0b013e318187dd0e. Pediatr Res. 2008. PMID: 18670370
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