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Items: 1 to 50 of 101

1.

Predictors of clinically urgent intracranial pathology at neuroimaging in children with complex febrile seizures: a retrospective cross-sectional study.

Guillou T, Carbajal R, Rambaud J, Titomanlio L, de Pontual L, Biscardi S, Nissack-Obiketeki G, Pellegrino B, Charara O, Angoulvant F, Denis J, Chalard F, Morel B, Loschi S, Chappuy H, Guedj R.

Acta Paediatr. 2019 Jul 16. doi: 10.1111/apa.14938. [Epub ahead of print]

PMID:
31310688
2.

Klebsiella pneumoniae and Klebsiella oxytoca meningitis in infants. Epidemiological and clinical features.

Carrie C, Walewski V, Levy C, Alexandre C, Baleine J, Charreton C, Coche-Monier B, Caeymaex L, Lageix F, Lorrot M, Klosowski S, Hess L, Zafer O, Gaudelus J, Pinquier D, Carbonnelle E, Cohen R, de Pontual L.

Arch Pediatr. 2019 Jan;26(1):12-15. doi: 10.1016/j.arcped.2018.09.013. Epub 2018 Dec 14.

PMID:
30558858
3.

16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.

Allach El Khattabi L, Heide S, Caberg JH, Andrieux J, Doco Fenzy M, Vincent-Delorme C, Callier P, Chantot-Bastaraud S, Afenjar A, Boute-Benejean O, Cordier MP, Faivre L, Francannet C, Gerard M, Goldenberg A, Masurel-Paulet A, Mosca-Boidron AL, Marle N, Moncla A, Le Meur N, Mathieu-Dramard M, Plessis G, Lesca G, Rossi M, Edery P, Delahaye-Duriez A, De Pontual L, Tabet AC, Lebbar A, Suiro L, Ioos C, Natiq A, Chafai Elalaoui S, Missirian C, Receveur A, François-Fiquet C, Garnier P, Yardin C, Laroche C, Vago P, Sanlaville D, Dupont JM, Benzacken B, Pipiras E.

J Med Genet. 2018 Oct 4. pii: jmedgenet-2018-105389. doi: 10.1136/jmedgenet-2018-105389. [Epub ahead of print]

PMID:
30287593
4.

Impact of social deprivation on length of stay for common infectious diseases in two French university-affiliated general pediatric departments.

Roussel A, Michel M, Lefevre-Utile A, De Pontual L, Faye A, Chevreul K.

Arch Pediatr. 2018 Aug;25(6):359-364. doi: 10.1016/j.arcped.2018.06.003. Epub 2018 Jul 21.

PMID:
30041884
5.

Multiplex PCR reveals a high prevalence of multiple pathogens in traveller's diarrhoea in children.

Pouletty M, De Pontual L, Lopez M, Morin L, Poilane I, Pham LL, Carbonnelle E, Titomanlio L, Faye A, Bonacorsi S.

Arch Dis Child. 2019 Feb;104(2):141-146. doi: 10.1136/archdischild-2017-314327. Epub 2018 Jul 7.

PMID:
29982173
6.

Antimicrobial treatment of infrequent bacterial species isolated in children.

Cohen R, de Pontual L, Gillet Y, Raymond J.

Arch Pediatr. 2017 Dec;24(12S):S52-S60. doi: 10.1016/S0929-693X(17)30520-1.

PMID:
29290236
7.

Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome.

Dorval G, Gribouval O, Martinez-Barquero V, Machuca E, Tête MJ, Baudouin V, Benoit S, Chabchoub I, Champion G, Chauveau D, Chehade H, Chouchane C, Cloarec S, Cochat P, Dahan K, Dantal J, Delmas Y, Deschênes G, Dolhem P, Durand D, Ekinci Z, El Karoui K, Fischbach M, Grunfeld JP, Guigonis V, Hachicha M, Hogan J, Hourmant M, Hummel A, Kamar N, Krummel T, Lacombe D, Llanas B, Mesnard L, Mohsin N, Niaudet P, Nivet H, Parvex P, Pietrement C, de Pontual L, Noble CP, Ribes D, Ronco P, Rondeau E, Sallee M, Tsimaratos M, Ulinski T, Salomon R, Antignac C, Boyer O.

Pediatr Nephrol. 2018 Mar;33(3):473-483. doi: 10.1007/s00467-017-3819-9. Epub 2017 Oct 23.

PMID:
29058154
8.

Impact of Implementing National Guidelines on Antibiotic Prescriptions for Acute Respiratory Tract Infections in Pediatric Emergency Departments: An Interrupted Time Series Analysis.

Ouldali N, Bellêttre X, Milcent K, Guedj R, de Pontual L, Cojocaru B, Soussan-Banini V, Craiu I, Skurnik D, Gajdos V, Chéron G, Cohen R, Alberti C, Angoulvant F.

Clin Infect Dis. 2017 Oct 16;65(9):1469-1476. doi: 10.1093/cid/cix590.

PMID:
29048511
9.

The potential role of microbiota for controlling the spread of extended-spectrum beta-lactamase-producing Enterobacteriaceae (ESBL-PE) in neonatal population.

Delerue T, de Pontual L, Carbonnelle E, Zahar JR.

F1000Res. 2017 Jul 25;6:1217. doi: 10.12688/f1000research.10713.1. eCollection 2017. Review.

10.

Imported Schistosomiasis in Children: Clinical, Diagnostic Aspects And Outcome in 5 Tertiary Hospitals in France.

Leblanc C, Pham LL, Mariani P, Titomanlio L, El Ghoneimi A, Paris L, Escoda S, Lottmann H, Toubiana J, Paugam A, Ulinski T, Bouchaud O, Brun S, Izri A, Faye A, De Pontual L.

Pediatr Infect Dis J. 2017 Dec;36(12):e349-e351. doi: 10.1097/INF.0000000000001679.

PMID:
28767615
11.

[Iron and susceptibility to infections].

de Pontual L.

Arch Pediatr. 2017 May;24(5S):5S14-5S17. doi: 10.1016/S0929-693X(17)24004-4. Review. French.

PMID:
28622776
12.

Effect of Nebulized Hypertonic Saline Treatment in Emergency Departments on the Hospitalization Rate for Acute Bronchiolitis: A Randomized Clinical Trial.

Angoulvant F, Bellêttre X, Milcent K, Teglas JP, Claudet I, Le Guen CG, de Pontual L, Minodier P, Dubos F, Brouard J, Soussan-Banini V, Degas-Bussiere V, Gatin A, Schweitzer C, Epaud R, Ryckewaert A, Cros P, Marot Y, Flahaut P, Saunier P, Babe P, Patteau G, Delebarre M, Titomanlio L, Vrignaud B, Trieu TV, Tahir A, Regnard D, Micheau P, Charara O, Henry S, Ploin D, Panjo H, Vabret A, Bouyer J, Gajdos V; Efficacy of 3% Hypertonic Saline in Acute Viral Bronchiolitis (GUERANDE) Study Group.

JAMA Pediatr. 2017 Aug 7;171(8):e171333. doi: 10.1001/jamapediatrics.2017.1333. Epub 2017 Aug 7.

13.

Performing a preliminary hazard analysis applied to administration of injectable drugs to infants.

Hfaiedh N, Kabiche S, Delescluse C, Balde IB, Merlin S, Carret S, de Pontual L, Fontan JE, Schlatter J.

J Eval Clin Pract. 2017 Aug;23(4):875-881. doi: 10.1111/jep.12748. Epub 2017 May 4.

PMID:
28471070
14.

The association of severe encephalopathy and question mark ear is highly suggestive of loss of MEF2C function.

Gordon CT, Tessier A, Demir Z, Goldenberg A, Oufadem M, Voisin N, Pingault V, Bienvenu T, Lyonnet S, de Pontual L, Amiel J.

Clin Genet. 2018 Feb;93(2):356-359. doi: 10.1111/cge.13046. Epub 2017 Sep 8.

PMID:
28456137
15.

Strains Responsible for Invasive Meningococcal Disease in Patients With Terminal Complement Pathway Deficiencies.

Rosain J, Hong E, Fieschi C, Martins PV, El Sissy C, Deghmane AE, Ouachée M, Thomas C, Launay D, de Pontual L, Suarez F, Moshous D, Picard C, Taha MK, Frémeaux-Bacchi V.

J Infect Dis. 2017 Apr 15;215(8):1331-1338. doi: 10.1093/infdis/jix143.

16.

[Kikuchi-Fujimoto disease mimicking malignant lymphoma in adolescents].

Escudier A, Courbage S, Meignin V, Abbou S, Sauvion S, Houlier M, Galerne A, Gaudelus J, de Pontual L, Simonin M.

Arch Pediatr. 2017 May;24(5):471-475. doi: 10.1016/j.arcped.2017.02.027. Epub 2017 Mar 30. French.

PMID:
28365190
17.

Do All Children Who Present With a Complex Febrile Seizure Need a Lumbar Puncture?

Guedj R, Chappuy H, Titomanlio L, De Pontual L, Biscardi S, Nissack-Obiketeki G, Pellegrino B, Charara O, Angoulvant F, Denis J, Levy C, Cohen R, Loschi S, Leger PL, Carbajal R.

Ann Emerg Med. 2017 Jul;70(1):52-62.e6. doi: 10.1016/j.annemergmed.2016.11.024. Epub 2017 Mar 2.

PMID:
28259480
18.

Chlorhexidine-induced IgE-mediated allergy in a 6-year-old child.

Cogné Y, Mouton-Faivre C, Cavasino T, Teychene AM, de Pontual L, Dewachter P.

J Allergy Clin Immunol Pract. 2017 May - Jun;5(3):837-838. doi: 10.1016/j.jaip.2016.11.019. Epub 2016 Dec 29. No abstract available.

PMID:
28042002
19.

Epidemiology of idiopathic nephrotic syndrome in children: endemic or epidemic?

Dossier C, Lapidus N, Bayer F, Sellier-Leclerc AL, Boyer O, de Pontual L, May A, Nathanson S, Orzechowski C, Simon T, Carrat F, Deschênes G.

Pediatr Nephrol. 2016 Dec;31(12):2299-2308. Epub 2016 Oct 24.

PMID:
27778092
20.

Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.

Guimier A, Gordon CT, Godard F, Ravenscroft G, Oufadem M, Vasnier C, Rambaud C, Nitschke P, Bole-Feysot C, Masson C, Dauger S, Longman C, Laing NG, Kugener B, Bonnet D, Bouvagnet P, Di Filippo S, Probst V, Redon R, Charron P, Rötig A, Lyonnet S, Dautant A, de Pontual L, di Rago JP, Delahodde A, Amiel J.

Am J Hum Genet. 2016 Sep 1;99(3):666-673. doi: 10.1016/j.ajhg.2016.06.021. Epub 2016 Aug 11.

21.

Children with chronic health disorders travelling to the tropics: a prospective observational study.

Ducrocq C, Sommet J, Levy D, Trieu TV, Quercia F, Morin L, Belletre X, Koehl B, Sorge F, Alberti C, de Pontual L, Faye A.

Arch Dis Child. 2016 Nov;101(11):1032-1036. doi: 10.1136/archdischild-2015-309436. Epub 2016 Jun 10.

PMID:
27288430
22.

Outcomes of bacterial meningitis in children.

Briand C, Levy C, Baumie F, Joao L, Béchet S, Carbonnelle E, Grimprel E, Cohen R, Gaudelus J, de Pontual L.

Med Mal Infect. 2016 Jun;46(4):177-87. doi: 10.1016/j.medmal.2016.02.009. Epub 2016 Mar 22.

PMID:
27020729
23.

[Visceral leishmaniasis without splenomegaly. A pediatric case report].

Leblanc C, Nouar D, Izri A, Brun S, Marty P, Gaudelus J, De Pontual L.

Arch Pediatr. 2016 Apr;23(4):378-81. doi: 10.1016/j.arcped.2015.12.007. Epub 2016 Jan 5. French.

PMID:
26776600
24.

Use of Procalcitonin Assays to Predict Serious Bacterial Infection in Young Febrile Infants.

Milcent K, Faesch S, Gras-Le Guen C, Dubos F, Poulalhon C, Badier I, Marc E, Laguille C, de Pontual L, Mosca A, Nissack G, Biscardi S, Le Hors H, Louillet F, Dumitrescu AM, Babe P, Vauloup-Fellous C, Bouyer J, Gajdos V.

JAMA Pediatr. 2016 Jan;170(1):62-9. doi: 10.1001/jamapediatrics.2015.3210. Erratum in: JAMA Pediatr. 2016 Jun 1;170(6):624.

PMID:
26595253
25.

MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.

Guimier A, Gabriel GC, Bajolle F, Tsang M, Liu H, Noll A, Schwartz M, El Malti R, Smith LD, Klena NT, Jimenez G, Miller NA, Oufadem M, Moreau de Bellaing A, Yagi H, Saunders CJ, Baker CN, Di Filippo S, Peterson KA, Thiffault I, Bole-Feysot C, Cooley LD, Farrow EG, Masson C, Schoen P, Deleuze JF, Nitschké P, Lyonnet S, de Pontual L, Murray SA, Bonnet D, Kingsmore SF, Amiel J, Bouvagnet P, Lo CW, Gordon CT.

Nat Genet. 2015 Nov;47(11):1260-3. doi: 10.1038/ng.3376. Epub 2015 Oct 5.

26.

[Association between the presence of antiphospholipid antibodies and the occurrence of autism spectrum disorder in childhood].

Lageix F, Nicaise-Roland P, Houlier M, Zylberberg P, Dubrel M, Heulin M, Fain O, Lachassinne E, Héron B, Chollet-Martin S, Mekinian A, de Pontual L.

Arch Pediatr. 2015 Nov;22(11):1140-6. doi: 10.1016/j.arcped.2015.08.007. Epub 2015 Sep 16. French.

PMID:
26386813
27.

Mosaic Tetrasomy 9p: A Mendelian Condition Associated With Pediatric-Onset Overlap Myositis.

Frémond ML, Gitiaux C, Bonnet D, Guiddir T, Crow YJ, de Pontual L, Bader-Meunier B.

Pediatrics. 2015 Aug;136(2):e544-7. doi: 10.1542/peds.2015-0724.

28.

[Complications of autism].

de Pontual L, Heulin M, Charles E, Héron B, Zylberberg P.

Arch Pediatr. 2015 May;22(5 Suppl 1):179-80. doi: 10.1016/S0929-693X(15)30089-0. French. No abstract available.

PMID:
26112580
29.

Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature review.

El Khattabi L, Jaillard S, Andrieux J, Pasquier L, Perrin L, Capri Y, Benmansour A, Toutain A, Marcorelles P, Vincent-Delorme C, Journel H, Henry C, De Barace C, Devisme L, Dubourg C, Demurger F, Lucas J, Belaud-Rotureau MA, Amiel J, Malan V, De Blois MC, De Pontual L, Lebbar A, Le Dû N, Germain DP, Pinard JM, Pipiras E, Tabet AC, Aboura A, Verloes A.

Am J Med Genet A. 2015 Jun;167(6):1252-61. doi: 10.1002/ajmg.a.36932. Epub 2015 Apr 2. Review.

30.

[Complement terminal fraction deficiency revealed at first invasive meningococcal infection].

de Marcellus C, Taha MK, Gaudelus J, Fremeaux-Bacchi V, de Pontual L, Guiddir T.

Arch Pediatr. 2015 Mar;22(3):296-9. doi: 10.1016/j.arcped.2014.11.011. Epub 2014 Dec 19. French.

PMID:
25534556
31.

Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French Severe Congenital Neutropenia Registry.

Desplantes C, Fremond ML, Beaupain B, Harousseau JL, Buzyn A, Pellier I, Roques G, Morville P, Paillard C, Bruneau J, Pinson L, Jeziorski E, Vannier JP, Picard C, Bellanger F, Romero N, de Pontual L, Lapillonne H, Lutz P, Chantelot CB, Donadieu J.

Orphanet J Rare Dis. 2014 Dec 10;9:183. doi: 10.1186/s13023-014-0183-8.

32.

Anti-TNF-α therapy may cause neonatal neutropenia.

Guiddir T, Frémond ML, Triki TB, Candon S, Croisille L, Leblanc T, de Pontual L.

Pediatrics. 2014 Oct;134(4):e1189-93. doi: 10.1542/peds.2014-0054.

33.

Emergency department diagnosis and management of skin diseases with real-time teledermatologic expertise.

Duong TA, Cordoliani F, Julliard C, Bourrat E, Regnier S, de Pontual L, Leroy C, Gallula S, Aparicio C, Legendre N, Bagot M, Guibal F.

JAMA Dermatol. 2014 Jul;150(7):743-7. doi: 10.1001/jamadermatol.2013.7792.

PMID:
24807408
34.

Invasive pneumococcal disease in children can reveal a primary immunodeficiency.

Gaschignard J, Levy C, Chrabieh M, Boisson B, Bost-Bru C, Dauger S, Dubos F, Durand P, Gaudelus J, Gendrel D, Gras Le Guen C, Grimprel E, Guyon G, Jeudy C, Jeziorski E, Leclerc F, Léger PL, Lesage F, Lorrot M, Pellier I, Pinquier D, de Pontual L, Sachs P, Thomas C, Tissières P, Valla FV, Desprez P, Frémeaux-Bacchi V, Varon E, Bossuyt X, Cohen R, Abel L, Casanova JL, Puel A, Picard C.

Clin Infect Dis. 2014 Jul 15;59(2):244-51. doi: 10.1093/cid/ciu274. Epub 2014 Apr 23.

35.

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.

Am J Med Genet A. 2014 May;164A(5):1310-7. doi: 10.1002/ajmg.a.36452. Epub 2014 Mar 24. Review.

PMID:
24665034
36.

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients.

Lehalle D, Gordon CT, Oufadem M, Goudefroye G, Boutaud L, Alessandri JL, Baena N, Baujat G, Baumann C, Boute-Benejean O, Caumes R, Decaestecker C, Gaillard D, Goldenberg A, Gonzales M, Holder-Espinasse M, Jacquemont ML, Lacombe D, Manouvrier-Hanu S, Marlin S, Mathieu-Dramard M, Morin G, Pasquier L, Petit F, Rio M, Smigiel R, Thauvin-Robinet C, Vasiljevic A, Verloes A, Malan V, Munnich A, de Pontual L, Vekemans M, Lyonnet S, Attié-Bitach T, Amiel J.

Hum Mutat. 2014 Apr;35(4):478-85. doi: 10.1002/humu.22517. Epub 2014 Mar 5.

PMID:
24470203
37.

[Chronic cough upon return from Morocco].

Pellan M, Bastian C, Gaudelus J, Delacourt C, de Pontual L.

Arch Pediatr. 2013 Oct;20(10):1147-8, 1158-9. doi: 10.1016/j.arcped.2013.06.028. Epub 2013 Aug 8. French. No abstract available.

PMID:
23932875
38.

[Pulmonary necrotizing cavity caused by Mycoplasma pneumoniae infection].

Pellan M, Bastian C, Gaudelus J, Delacourt C, de Pontual L.

Arch Pediatr. 2013 Oct;20(10):1158-9. doi: 10.1016/j.arcped.2013.06.031. Epub 2013 Aug 7. French. No abstract available.

PMID:
23932661
39.

Autism spectrum disorders in babies born to mothers with antiphospholipid syndrome.

Abisror N, Mekinian A, Lachassinne E, Nicaise-Roland P, De Pontual L, Chollet-Martin S, Boddaert N, Carbillon L, Fain O.

Semin Arthritis Rheum. 2013 Dec;43(3):348-51. doi: 10.1016/j.semarthrit.2013.07.001. Epub 2013 Jul 30.

PMID:
23910451
40.

Reply to Stoesser et al.

Rousseau C, Poilane I, De Pontual L, Maherault AC, Le Monnier A, Collignon A.

Clin Infect Dis. 2013 Jun;56(11):1681-2. doi: 10.1093/cid/cit093. Epub 2013 Feb 26. No abstract available.

PMID:
23442762
41.

[Management of acute diarrhea in children].

Van Trieu T, De Pontual L.

Presse Med. 2013 Jan;42(1):60-5. doi: 10.1016/j.lpm.2012.10.012. Epub 2012 Dec 21. Review. French.

PMID:
23265760
42.

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.

Gordon CT, Petit F, Oufadem M, Decaestecker C, Jourdain AS, Andrieux J, Malan V, Alessandri JL, Baujat G, Baumann C, Boute-Benejean O, Caumes R, Delobel B, Dieterich K, Gaillard D, Gonzales M, Lacombe D, Escande F, Manouvrier-Hanu S, Marlin S, Mathieu-Dramard M, Mehta SG, Simonic I, Munnich A, Vekemans M, Porchet N, de Pontual L, Sarnacki S, Attie-Bitach T, Lyonnet S, Holder-Espinasse M, Amiel J.

J Med Genet. 2012 Dec;49(12):737-46. doi: 10.1136/jmedgenet-2012-101173.

PMID:
23188108
43.

miRNA, development and disease.

Amiel J, de Pontual L, Henrion-Caude A.

Adv Genet. 2012;80:1-36. doi: 10.1016/B978-0-12-404742-6.00001-6. Review. No abstract available.

PMID:
23084872
44.

Clostridium difficile carriage in healthy infants in the community: a potential reservoir for pathogenic strains.

Rousseau C, Poilane I, De Pontual L, Maherault AC, Le Monnier A, Collignon A.

Clin Infect Dis. 2012 Nov;55(9):1209-15. doi: 10.1093/cid/cis637. Epub 2012 Jul 25.

PMID:
22843784
45.

Survey of vaccination policies in French healthcare institutions.

Bouhour D, Gavazzi G, Gaillat J, Gajdos V, Loulergue P, Paccalin M, Ploy MC, de Pontual L, Pulcini C, Rogeaux O, Sana C, Caulin E; group “Avancées Vaccinales”.

Med Mal Infect. 2012 Apr;42(4):161-6. doi: 10.1016/j.medmal.2011.11.003. Epub 2012 Apr 18.

PMID:
22516534
46.

[Immunization of the preterm infant].

Gaudelus J, Lachassinne E, de Pontual L.

Rev Prat. 2012 Mar;62(3):382-3. French. No abstract available.

PMID:
22514999
47.

A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant.

Bolze A, Abhyankar A, Grant AV, Patel B, Yadav R, Byun M, Caillez D, Emile JF, Pastor-Anglada M, Abel L, Puel A, Govindarajan R, de Pontual L, Casanova JL.

PLoS One. 2012;7(1):e29708. doi: 10.1371/journal.pone.0029708. Epub 2012 Jan 4.

48.

[Severe bacterial infections and sudden death in children less than 4-years-old: 3 case reports].

Chapelon E, Bélien-Pallet V, Ayachi A, Rambaud C, Gaudelus J, de Pontual L.

Arch Pediatr. 2012 Feb;19(2):146-9. doi: 10.1016/j.arcped.2011.11.012. Epub 2011 Dec 28. French.

PMID:
22209380
49.

[Current events in vaccination].

Aubert M, Aumaître H, Beytout J, Bloch K, Bouhour D, Callamand P, Chave C, Cheymol J, Combadière B, Dahlab A, Denis F, De Pontual L, Dodet B, Dommergues MA, Dufour V, Gagneur A, Gaillat J, Gaudelus J, Gavazzi G, Gillet Y, Gras-le-Guen C, Haas H, Hanslik T, Hau-Rainsard I, Larnaudie S, Launay O, Lorrot M, Loulergue P, Malvy D, Marchand S, Picherot G, Pinquier D, Pulcini C, Rabaud C, Regnier F, Reinert P, Sana C, Savagner C, Soubeyrand B, Stephan JL, Strady C.

Arch Pediatr. 2011 Nov;18(11):1234-46. doi: 10.1016/j.arcped.2011.07.025. Epub 2011 Oct 20. French.

PMID:
22019286
50.

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.

Hum Mutat. 2011 Mar;32(3):272-6. doi: 10.1002/humu.21442.

PMID:
21972109

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