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Items: 21

1.

Clinical and biological features in PIEZO1-hereditary xerocytosis and Gardos channelopathy: a retrospective series of 126 patients.

Picard V, Guitton C, Thuret I, Rose C, Bendelac L, Ghazal K, Aguilar-Martinez P, Badens C, Barro C, Bénéteau C, Berger C, Cathébras P, Deconinck E, Delaunay J, Durand JM, Firah N, Galactéros F, Godeau B, Jaïs X, de Jaureguiberry JP, Le Stradic C, Lifermann F, Maffre R, Morin G, Perrin J, Proulle V, Ruivard M, Toutain F, Lahary A, Garçon L.

Haematologica. 2019 Aug;104(8):1554-1564. doi: 10.3324/haematol.2018.205328. Epub 2019 Jan 17.

2.

Chronic granulomatous skin lesions leading to a diagnosis of TAP1 deficiency syndrome.

Law-Ping-Man S, Toutain F, Rieux-Laucat F, Picard C, Kammerer-Jacquet S, Magérus-Chatinet A, Dupuy A, Adamski H.

Pediatr Dermatol. 2018 Nov;35(6):e375-e377. doi: 10.1111/pde.13676. Epub 2018 Sep 6.

PMID:
30189467
3.

Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients.

Donadieu J, Lamant M, Fieschi C, de Fontbrune FS, Caye A, Ouachee M, Beaupain B, Bustamante J, Poirel HA, Isidor B, Van Den Neste E, Neel A, Nimubona S, Toutain F, Barlogis V, Schleinitz N, Leblanc T, Rohrlich P, Suarez F, Ranta D, Chahla WA, Bruno B, Terriou L, Francois S, Lioure B, Ahle G, Bachelerie F, Preudhomme C, Delabesse E, Cave H, Bellanné-Chantelot C, Pasquet M; French GATA2 study group.

Haematologica. 2018 Aug;103(8):1278-1287. doi: 10.3324/haematol.2017.181909. Epub 2018 May 3.

4.

Non syndromic childhood onset congenital sideroblastic anemia: A report of 13 patients identified with an ALAS2 or SLC25A38 mutation.

Le Rouzic MA, Fouquet C, Leblanc T, Touati M, Fouyssac F, Vermylen C, Jäkel N, Guichard JF, Maloum K, Toutain F, Lutz P, Perel Y, Manceau H, Kannengiesser C, Vannier JP.

Blood Cells Mol Dis. 2017 Jul;66:11-18. doi: 10.1016/j.bcmd.2017.07.003. Epub 2017 Jul 26.

PMID:
28772256
5.

Skin manifestations among GATA2-deficient patients.

Polat A, Dinulescu M, Fraitag S, Nimubona S, Toutain F, Jouneau S, Poullot E, Droitcourt C, Dupuy A.

Br J Dermatol. 2018 Mar;178(3):781-785. doi: 10.1111/bjd.15548. Epub 2017 Oct 11.

6.

Tufted angioma with Kasabach-Merritt syndrome mistaken for child abuse.

Bouvet R, Pierre M, Toutain F, Beucher J, Dabadie A, Le Gall F, François-Chervet C, Pladys P, Bruneau B, Le Gueut M.

Forensic Sci Int. 2014 Dec;245:e15-7. doi: 10.1016/j.forsciint.2014.10.003. Epub 2014 Oct 14.

PMID:
25459275
7.

Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels.

Albuisson J, Murthy SE, Bandell M, Coste B, Louis-Dit-Picard H, Mathur J, Fénéant-Thibault M, Tertian G, de Jaureguiberry JP, Syfuss PY, Cahalan S, Garçon L, Toutain F, Simon Rohrlich P, Delaunay J, Picard V, Jeunemaitre X, Patapoutian A.

Nat Commun. 2013;4:1884. doi: 10.1038/ncomms2899. Erratum in: Nat Commun. 2013;4:2440.

8.

[Iron deficiency in children and teenagers: a health problem that is still present].

Toutain F, Le Gall E, Gandemer V.

Arch Pediatr. 2012 Oct;19(10):1127-31. doi: 10.1016/j.arcped.2012.04.004. Epub 2012 Sep 12. French.

PMID:
22980439
9.

[Recurrent and metastatic infantile fibrosarcoma: a case report].

Lagree M, Toutain F, Revillon Y, Gaussin G, Marie-Cardine A, Lemoine F, Vannier JP.

Arch Pediatr. 2011 Jan;18(1):28-32. doi: 10.1016/j.arcped.2010.10.004. Epub 2010 Nov 16. French.

PMID:
21084177
10.

Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia.

Silvestri L, Guillem F, Pagani A, Nai A, Oudin C, Silva M, Toutain F, Kannengiesser C, Beaumont C, Camaschella C, Grandchamp B.

Blood. 2009 May 28;113(22):5605-8. doi: 10.1182/blood-2008-12-195594. Epub 2009 Apr 8.

11.

[Haemophilia in a newborn with inhabitual clinic presentation].

Bruel H, Picaud B, Toutain F, Saladin-Thiron C, Smokvina-Millardet K.

Arch Pediatr. 2008 Mar;15(3):321-2. doi: 10.1016/j.arcped.2008.01.014. Epub 2008 Mar 10. French. No abstract available.

PMID:
18329866
12.

[Nosocomial viral infections in a pediatric service: example of rotaviral gastroenteritis and respiratory syncytial viral bronchiolitis].

Le Roux P, Marshall B, Toutain F, Mary JF, Pinon G, Briquet E, Le Luyer B.

Arch Pediatr. 2004 Aug;11(8):908-15. French.

PMID:
15288080
13.

The function of the superficial root mat in the biogeochemical cycles of nutrients in congolese eucalyptus plantations.

Laclau JP, Toutain F, M'bou AT, Arnaud M, Joffre R, Ranger J.

Ann Bot. 2004 Mar;93(3):249-61. Epub 2004 Jan 28.

14.

[Celiac disease and myocarditis: a fortuitous association?].

Le Luyer B, Lebas A, Toutain F, Duquenoy A, Poinsot J, Le Roux P.

Arch Pediatr. 2003 Sep;10(9):834-5. French. No abstract available.

PMID:
12972214
15.

Gouty tendinitis revealing glycogen storage disease Type Ia in two adolescents.

Carvès C, Duquenoy A, Toutain F, Trioche P, Zarnitski C, Le Roux P, Le Luyer B.

Joint Bone Spine. 2003 Mar;70(2):149-53.

PMID:
12713862
16.

[Asthma in infants and young children. Prevention, challenge of the 21st century?].

Le Roux P, Toutain F, Le Luyer B.

Arch Pediatr. 2002 Aug;9 Suppl 3:408s-414s. Review. French.

PMID:
12205817
17.

[Role of viral infections and Chlamydia pneumoniae and Mycoplasma pneumoniae infections in asthma in infants and young children. Epidemiologic study of 118 children].

Brouard J, Freymuth F, Toutain F, Bach N, Vabret A, Gouarin S, Petitjean J, Duhamel JF.

Arch Pediatr. 2002 Aug;9 Suppl 3:365s-371s. French.

PMID:
12205810
18.

[Endoscopically discovered pancreatic heterotopia: intervention or not?].

Le Luyer B, Fayouni M, Duquenoy A, Toutain F, Le Roux P, Menard M.

Arch Pediatr. 2002 Feb;9(2):218-9. French. No abstract available.

PMID:
11915506
19.

Detection of viral, Chlamydia pneumoniae and Mycoplasma pneumoniae infections in exacerbations of asthma in children.

Freymuth F, Vabret A, Brouard J, Toutain F, Verdon R, Petitjean J, Gouarin S, Duhamel JF, Guillois B.

J Clin Virol. 1999 Aug;13(3):131-9.

PMID:
10443789
20.

[Respiratory allergy and the viruses].

Brouard J, Freymuth F, Vabret A, Toutain F, Duhamel JF.

Arch Pediatr. 1999;6 Suppl 1:29S-34S. French.

PMID:
10191921
21.

[Ultrastructural study of the biodegradation processes. I. Beech (Fagus sylvaticus L.) leaf white rot].

Reisinger O, Toutain F, Mangenot F, Arnould MF.

Can J Microbiol. 1978 Jun;24(6):725-33. French.

PMID:
667739

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