Dubern B - Search Results

1

Beneficial Effects of Setmelanotide in a 5-Year-Old Boy With POMC Deficiency and on His Caregivers.

Dubern B, Lourdelle A, Clément K. Dubern B, et al. JCEM Case Rep. 2023 Jun 15;1(3):luad041. doi: 10.1210/jcemcr/luad041. eCollection 2023 May. JCEM Case Rep. 2023. PMID: 37908575 Free PMC article.

2

Retinal involvement in two unrelated patients with Myhre syndrome.

Al Ageeli E, Mignot C, Afenjar A, Whalen S, Dorison N, Mayer M, Esteva B, Dubern B, Momtchilova M, Le Gargasson JF, Bursztyn J, Héron D. Al Ageeli E, et al. Among authors: dubern b. Eur J Med Genet. 2012 Oct;55(10):541-7. doi: 10.1016/j.ejmg.2012.05.006. Epub 2012 Jun 7. Eur J Med Genet. 2012. PMID: 22683461

3

Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD.

Picker-Minh S, Mignot C, Doummar D, Hashem M, Faqeih E, Josset P, Dubern B, Alkuraya FS, Kraemer N, Kaindl AM. Picker-Minh S, et al. Among authors: dubern b. Orphanet J Rare Dis. 2016 Apr 29;11(1):52. doi: 10.1186/s13023-016-0433-z. Orphanet J Rare Dis. 2016. PMID: 27129381 Free PMC article.

4

Floating-Harbor Syndrome: report on a case in a mother and daughter, further evidence of autosomal dominant inheritance.

Arpin S, Afenjar A, Dubern B, Toutain A, Cabrol S, Héron D. Arpin S, et al. Among authors: dubern b. Clin Dysmorphol. 2012 Jan;21(1):11-14. doi: 10.1097/MCD.0b013e32834af5a7. Clin Dysmorphol. 2012. PMID: 21955542

5

Intracellular retention is a common characteristic of childhood obesity-associated MC4R mutations.

Lubrano-Berthelier C, Durand E, Dubern B, Shapiro A, Dazin P, Weill J, Ferron C, Froguel P, Vaisse C. Lubrano-Berthelier C, et al. Among authors: dubern b. Hum Mol Genet. 2003 Jan 15;12(2):145-53. doi: 10.1093/hmg/ddg016. Hum Mol Genet. 2003. PMID: 12499395

6

Syndromic (phenotypic) diarrhoea of infancy/tricho-hepato-enteric syndrome.

Fabre A, Breton A, Coste ME, Colomb V, Dubern B, Lachaux A, Lemale J, Mancini J, Marinier E, Martinez-Vinson C, Peretti N, Perry A, Roquelaure B, Venaille A, Sarles J, Goulet O, Badens C. Fabre A, et al. Among authors: dubern b. Arch Dis Child. 2014 Jan;99(1):35-8. doi: 10.1136/archdischild-2013-304016. Epub 2013 Oct 9. Arch Dis Child. 2014. PMID: 24108068

7

Orthotopic liver transplantation for mitochondrial respiratory chain disorders: a study of 5 children.

Dubern B, Broue P, Dubuisson C, Cormier-Daire V, Habes D, Chardot C, Devictor D, Munnich A, Bernard O. Dubern B, et al. Transplantation. 2001 Mar 15;71(5):633-7. doi: 10.1097/00007890-200103150-00009. Transplantation. 2001. PMID: 11292292

8

Therapeutic strategies for idiopathic chylothorax.

Epaud R, Dubern B, Larroquet M, Tamalet A, Guillemot N, Maurage C, Clement A, Fauroux B. Epaud R, et al. Among authors: dubern b. J Pediatr Surg. 2008 Mar;43(3):461-5. doi: 10.1016/j.jpedsurg.2007.10.024. J Pediatr Surg. 2008. PMID: 18358282

9

[When should enteral nutrition begin?].

Dubern B. Dubern B. Arch Pediatr. 2015 May;22(5 Suppl 1):59-60. doi: 10.1016/S0929-693X(15)30031-2. Arch Pediatr. 2015. PMID: 26112522 French. No abstract available.

10

Chronic intestinal pseudo-obstruction in a child with Treacher Collins syndrome.

Giabicani E, Lemale J, Dainese L, Boudjemaa S, Coulomb A, Tounian P, Dubern B. Giabicani E, et al. Among authors: dubern b. Arch Pediatr. 2017 Oct;24(10):1000-1004. doi: 10.1016/j.arcped.2017.07.004. Epub 2017 Sep 15. Arch Pediatr. 2017. PMID: 28927774

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