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Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency.
Cottineau J, Kottemann MC, Lach FP, Kang YH, Vély F, Deenick EK, Lazarov T, Gineau L, Wang Y, Farina A, Chansel M, Lorenzo L, Piperoglou C, Ma CS, Nitschke P, Belkadi A, Itan Y, Boisson B, Jabot-Hanin F, Picard C, Bustamante J, Eidenschenk C, Boucherit S, Aladjidi N, Lacombe D, Barat P, Qasim W, Hurst JA, Pollard AJ, Uhlig HH, Fieschi C, Michon J, Bermudez VP, Abel L, de Villartay JP, Geissmann F, Tangye SG, Hurwitz J, Vivier E, Casanova JL, Smogorzewska A, Jouanguy E. Cottineau J, et al. Among authors: lacombe d. J Clin Invest. 2017 May 1;127(5):1991-2006. doi: 10.1172/JCI90727. Epub 2017 Apr 17. J Clin Invest. 2017. PMID: 28414293 Free PMC article.
The phenotype of Floating-Harbor syndrome in 10 patients.
White SM, Morgan A, Da Costa A, Lacombe D, Knight SJ, Houlston R, Whiteford ML, Newbury-Ecob RA, Hurst JA. White SM, et al. Among authors: lacombe d. Am J Med Genet A. 2010 Apr;152A(4):821-9. doi: 10.1002/ajmg.a.33294. Am J Med Genet A. 2010. PMID: 20358590
Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa.
Ralser DJ, Basmanav FB, Tafazzoli A, Wititsuwannakul J, Delker S, Danda S, Thiele H, Wolf S, Busch M, Pulimood SA, Altmüller J, Nürnberg P, Lacombe D, Hillen U, Wenzel J, Frank J, Odermatt B, Betz RC. Ralser DJ, et al. Among authors: lacombe d. J Clin Invest. 2017 Apr 3;127(4):1485-1490. doi: 10.1172/JCI90667. Epub 2017 Mar 13. J Clin Invest. 2017. PMID: 28287404 Free PMC article.
HRAS germline mutations impair LKB1/AMPK signaling and mitochondrial homeostasis in Costello syndrome models.
Dard L, Hubert C, Esteves P, Blanchard W, Bou About G, Baldasseroni L, Dumon E, Angelini C, Delourme M, Guyonnet-Dupérat V, Claverol S, Fontenille L, Kissa K, Séguéla PE, Thambo JB, Nicolas L, Herault Y, Bellance N, Dias Amoedo N, Magdinier F, Sorg T, Lacombe D, Rossignol R. Dard L, et al. Among authors: lacombe d. J Clin Invest. 2022 Apr 15;132(8):e131053. doi: 10.1172/JCI131053. J Clin Invest. 2022. PMID: 35230976 Free PMC article.
PADDAS syndrome associated with hair dysplasia caused by a de novo missense variant of PUM1.
Bonnemason-Carrere P, Morice-Picard F, Pennamen P, Arveiler B, Fergelot P, Goizet C, Hellegouarch M, Lacombe D, Plaisant C, Raclet V, Rooryck C, Lasseaux E, Trimouille A. Bonnemason-Carrere P, et al. Among authors: lacombe d. Am J Med Genet A. 2019 Jun;179(6):1030-1033. doi: 10.1002/ajmg.a.61127. Epub 2019 Mar 23. Am J Med Genet A. 2019. PMID: 30903679 Review.
1.5 Mb microdeletion in 15q24 in a patient with mild OAVS phenotype.
Brun A, Cailley D, Toutain J, Bouron J, Arveiler B, Lacombe D, Goizet C, Rooryck C. Brun A, et al. Among authors: lacombe d. Eur J Med Genet. 2012 Feb;55(2):135-9. doi: 10.1016/j.ejmg.2011.11.006. Epub 2011 Dec 3. Eur J Med Genet. 2012. PMID: 22198201
676 results