Reznik Y - Search Results

1

Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia.

Amsellem S, Briffaut D, Carrié A, Rabès JP, Girardet JP, Fredenrich A, Moulin P, Krempf M, Reznik Y, Vialettes B, de Gennes JL, Brukert E, Benlian P. Amsellem S, et al. Among authors: reznik y. Hum Genet. 2002 Dec;111(6):501-10. doi: 10.1007/s00439-002-0813-4. Epub 2002 Sep 13. Hum Genet. 2002. PMID: 12436241

2

Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia.

Allard D, Amsellem S, Abifadel M, Trillard M, Devillers M, Luc G, Krempf M, Reznik Y, Girardet JP, Fredenrich A, Junien C, Varret M, Boileau C, Benlian P, Rabès JP. Allard D, et al. Among authors: reznik y. Hum Mutat. 2005 Nov;26(5):497. doi: 10.1002/humu.9383. Hum Mutat. 2005. PMID: 16211558

3

PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.

Thauvin-Robinet C, Auclair M, Duplomb L, Caron-Debarle M, Avila M, St-Onge J, Le Merrer M, Le Luyer B, Héron D, Mathieu-Dramard M, Bitoun P, Petit JM, Odent S, Amiel J, Picot D, Carmignac V, Thevenon J, Callier P, Laville M, Reznik Y, Fagour C, Nunes ML, Capeau J, Lascols O, Huet F, Faivre L, Vigouroux C, Rivière JB. Thauvin-Robinet C, et al. Among authors: reznik y. Am J Hum Genet. 2013 Jul 11;93(1):141-9. doi: 10.1016/j.ajhg.2013.05.019. Epub 2013 Jun 27. Am J Hum Genet. 2013. PMID: 23810378 Free PMC article.

4

Intellectual disability in patients with MODY due to hepatocyte nuclear factor 1B (HNF1B) molecular defects.

Dubois-Laforgue D, Bellanné-Chantelot C, Charles P, Jacquette A, Larger E, Ciangura C, Saint-Martin C, Rastel C, Keren B, Timsit J; Monogenic Diabetes Study Group of the Société Francophone du Diabète (SFD). Dubois-Laforgue D, et al. Diabetes Metab. 2017 Feb;43(1):89-92. doi: 10.1016/j.diabet.2016.10.003. Epub 2016 Nov 10. Diabetes Metab. 2017. PMID: 27838256 No abstract available.

5

Use of dipeptidyl peptidase-4 inhibitors and prognosis of COVID-19 in hospitalized patients with type 2 diabetes: A propensity score analysis from the CORONADO study.

Roussel R, Darmon P, Pichelin M, Goronflot T, Abouleka Y, Ait Bachir L, Allix I, Ancelle D, Barraud S, Bordier L, Carlier A, Chevalier N, Coffin-Boutreux C, Cosson E, Dorange A, Dupuy O, Fontaine P, Fremy B, Galtier F, Germain N, Guedj AM, Larger E, Laugier-Robiolle S, Laviolle B, Ludwig L, Monier A, Montanier N, Moulin P, Moura I, Prevost G, Reznik Y, Sabbah N, Saulnier PJ, Serusclat P, Vatier C, Wargny M, Hadjadj S, Gourdy P, Cariou B; CORONADO investigators. Roussel R, et al. Among authors: reznik y. Diabetes Obes Metab. 2021 May;23(5):1162-1172. doi: 10.1111/dom.14324. Epub 2021 Feb 16. Diabetes Obes Metab. 2021. PMID: 33528920 Free PMC article.

6

Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management.

Avila M, Dyment DA, Sagen JV, St-Onge J, Moog U, Chung BHY, Mo S, Mansour S, Albanese A, Garcia S, Martin DO, Lopez AA, Claudi T, König R, White SM, Sawyer SL, Bernstein JA, Slattery L, Jobling RK, Yoon G, Curry CJ, Merrer ML, Luyer BL, Héron D, Mathieu-Dramard M, Bitoun P, Odent S, Amiel J, Kuentz P, Thevenon J, Laville M, Reznik Y, Fagour C, Nunes ML, Delesalle D, Manouvrier S, Lascols O, Huet F, Binquet C, Faivre L, Rivière JB, Vigouroux C, Njølstad PR, Innes AM, Thauvin-Robinet C. Avila M, et al. Among authors: reznik y. Clin Genet. 2016 Apr;89(4):501-506. doi: 10.1111/cge.12688. Epub 2015 Nov 27. Clin Genet. 2016. PMID: 26497935 Free article.

7

Pegvisomant treatment in patients with acromegaly in clinical practice: The French ACROSTUDY.

Chanson P, Brue T, Delemer B, Caron P, Borson-Chazot F, Zouater H; Médecins de l'Étude ACROSTUDY. Chanson P, et al. Ann Endocrinol (Paris). 2015 Dec;76(6):664-70. doi: 10.1016/j.ando.2015.10.003. Epub 2015 Nov 17. Ann Endocrinol (Paris). 2015. PMID: 26596374

8

Liver transplant combined with heart transplant in severe heterozygous hypercholesterolemia: report of the first case and review of the literature.

Alkofer BJ, Chiche L, Khayat A, Deshayes JP, Lepage A, Saloux E, Reznik Y. Alkofer BJ, et al. Among authors: reznik y. Transplant Proc. 2005 Jun;37(5):2250-2. doi: 10.1016/j.transproceed.2005.03.037. Transplant Proc. 2005. PMID: 15964390 Review.

9

New metabolic phenotypes in laminopathies: LMNA mutations in patients with severe metabolic syndrome.

Decaudain A, Vantyghem MC, Guerci B, Hécart AC, Auclair M, Reznik Y, Narbonne H, Ducluzeau PH, Donadille B, Lebbé C, Béréziat V, Capeau J, Lascols O, Vigouroux C. Decaudain A, et al. Among authors: reznik y. J Clin Endocrinol Metab. 2007 Dec;92(12):4835-44. doi: 10.1210/jc.2007-0654. Epub 2007 Aug 21. J Clin Endocrinol Metab. 2007. PMID: 17711925

10

Perilipin deficiency and autosomal dominant partial lipodystrophy.

Gandotra S, Le Dour C, Bottomley W, Cervera P, Giral P, Reznik Y, Charpentier G, Auclair M, Delépine M, Barroso I, Semple RK, Lathrop M, Lascols O, Capeau J, O'Rahilly S, Magré J, Savage DB, Vigouroux C. Gandotra S, et al. Among authors: reznik y. N Engl J Med. 2011 Feb 24;364(8):740-8. doi: 10.1056/NEJMoa1007487. N Engl J Med. 2011. PMID: 21345103 Free PMC article.

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