Romanet P - Search Results

1

Case report of GNAS epigenetic defect revealed by a congenital hypothyroidism.

Romanet P, Osei L, Netchine I, Pertuit M, Enjalbert A, Reynaud R, Barlier A. Romanet P, et al. Pediatrics. 2015 Apr;135(4):e1079-83. doi: 10.1542/peds.2014-2806. Pediatrics. 2015. PMID: 25802348

2

Pathological and Genetic Characterization of Bilateral Adrenomedullary Hyperplasia in a Patient with Germline MAX Mutation.

Romanet P, Guerin C, Pedini P, Essamet W, Castinetti F, Sebag F, Roche P, Cascon A, Tischler AS, Pacak K, Barlier A, Taïeb D. Romanet P, et al. Endocr Pathol. 2017 Dec;28(4):302-307. doi: 10.1007/s12022-016-9460-5. Endocr Pathol. 2017. PMID: 27838885 Free PMC article.

3

Implications of SDHB genetic testing in patients with sporadic pheochromocytoma.

Maignan A, Guerin C, Julliard V, Paladino NC, Kim E, Roche P, Castinetti F, Essamet W, Mancini J, Imperiale A, Clifton-Bligh R, Romanet P, Barlier A, Pacak K, Sebag F, Taïeb D. Maignan A, et al. Among authors: romanet p. Langenbecks Arch Surg. 2017 Aug;402(5):787-798. doi: 10.1007/s00423-017-1564-y. Epub 2017 Feb 22. Langenbecks Arch Surg. 2017. PMID: 28229225 Free PMC article.

4

Looking beyond the thyroid: advances in the understanding of pheochromocytoma and hyperparathyroidism phenotypes in MEN2 and of non-MEN2 familial forms.

Guerin C, Romanet P, Taieb D, Brue T, Lacroix A, Sebag F, Barlier A, Castinetti F. Guerin C, et al. Among authors: romanet p. Endocr Relat Cancer. 2018 Feb;25(2):T15-T28. doi: 10.1530/ERC-17-0266. Epub 2017 Sep 5. Endocr Relat Cancer. 2018. PMID: 28874394 Review.

5

Nationwide French Study of RET Variants Detected from 2003 to 2013 Suggests a Possible Influence of Polymorphisms as Modifiers.

Lebeault M, Pinson S, Guillaud-Bataille M, Gimenez-Roqueplo AP, Carrie A, Barbu V, Pigny P, Bezieau S, Rey JM, Delvincourt C, Giraud S, Veyrat-Durebex C, Saulnier P, Bouzamondo N, Chabbert M, Blin J, Mohamed A, Romanet P, Borson-Chazot F, Rohmer V, Barlier A, Mirebeau-Prunier D. Lebeault M, et al. Among authors: romanet p. Thyroid. 2017 Dec;27(12):1511-1522. doi: 10.1089/thy.2016.0399. Epub 2017 Nov 3. Thyroid. 2017. PMID: 28946813

6

Functioning Mediastinal Paraganglioma Associated with a Germline Mutation of von Hippel-Lindau Gene.

Bahougne T, Romanet P, Mohamed A, Caselles K, Cuny T, Barlier A, Niccoli P. Bahougne T, et al. Among authors: romanet p. J Clin Med. 2018 May 23;7(6):116. doi: 10.3390/jcm7060116. J Clin Med. 2018. PMID: 29789510 Free PMC article.

7

Heterozygous LHX3 mutations may lead to a mild phenotype of combined pituitary hormone deficiency.

Jullien N, Romanet P, Philippon M, Quentien MH, Beck-Peccoz P, Bergada I, Odent S, Reynaud R, Barlier A, Saveanu A, Brue T, Castinetti F. Jullien N, et al. Among authors: romanet p. Eur J Hum Genet. 2019 Feb;27(2):216-225. doi: 10.1038/s41431-018-0264-6. Epub 2018 Sep 27. Eur J Hum Genet. 2019. PMID: 30262920 Free PMC article.

8

UMD-MEN1 Database: An Overview of the 370 MEN1 Variants Present in 1676 Patients From the French Population.

Romanet P, Mohamed A, Giraud S, Odou MF, North MO, Pertuit M, Pasmant E, Coppin L, Guien C, Calender A, Borson-Chazot F, Béroud C, Goudet P, Barlier A. Romanet P, et al. J Clin Endocrinol Metab. 2019 Mar 1;104(3):753-764. doi: 10.1210/jc.2018-01170. J Clin Endocrinol Metab. 2019. PMID: 30339208

9

Using Digital Droplet Polymerase Chain Reaction to Detect the Mosaic GNAS Mutations in Whole Blood DNA or Circulating Cell-Free DNA in Fibrous Dysplasia and McCune-Albright Syndrome.

Romanet P, Philibert P, Fina F, Cuny T, Roche C, Ouafik L, Paris F, Reynaud R, Barlier A. Romanet P, et al. J Pediatr. 2019 Feb;205:281-285.e4. doi: 10.1016/j.jpeds.2018.09.070. Epub 2018 Nov 13. J Pediatr. 2019. PMID: 30442414

10

Tumor multifocality with vagus nerve involvement as a phenotypic marker of SDHD mutation in patients with head and neck paragangliomas: A ¹⁸ F-FDOPA PET/CT study.

Amodru V, Romanet P, Scemama U, Montava M, Fakhry N, Sebag F, Castinetti F, Lavieille JP, Loundou A, Varoquaux A, Barlier A, Pacak K, Taïeb D. Amodru V, et al. Among authors: romanet p. Head Neck. 2019 Jun;41(6):1565-1571. doi: 10.1002/hed.25604. Epub 2018 Dec 24. Head Neck. 2019. PMID: 30584686 Free PMC article.

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