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Page 1
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.
Johnson BV, Kumar R, Oishi S, Alexander S, Kasherman M, Vega MS, Ivancevic A, Gardner A, Domingo D, Corbett M, Parnell E, Yoon S, Oh T, Lines M, Lefroy H, Kini U, Van Allen M, Grønborg S, Mercier S, Küry S, Bézieau S, Pasquier L, Raynaud M, Afenjar A, Billette de Villemeur T, Keren B, Désir J, Van Maldergem L, Marangoni M, Dikow N, Koolen DA, VanHasselt PM, Weiss M, Zwijnenburg P, Sa J, Reis CF, López-Otín C, Santiago-Fernández O, Fernández-Jaén A, Rauch A, Steindl K, Joset P, Goldstein A, Madan-Khetarpal S, Infante E, Zackai E, Mcdougall C, Narayanan V, Ramsey K, Mercimek-Andrews S, Pena L, Shashi V; Undiagnosed Diseases Network; Schoch K, Sullivan JA, Pinto E Vairo F, Pichurin PN, Ewing SA, Barnett SS, Klee EW, Perry MS, Koenig MK, Keegan CE, Schuette JL, Asher S, Perilla-Young Y, Smith LD, Rosenfeld JA, Bhoj E, Kaplan P, Li D, Oegema R, van Binsbergen E, van der Zwaag B, Smeland MF, Cutcutache I, Page M, Armstrong M, Lin AE, Steeves MA, Hollander ND, Hoffer MJV, Reijnders MRF, Demirdas S, Koboldt DC, Bartholomew D, Mosher TM, Hickey SE, Shieh C, Sanchez-Lara PA, Graham JM Jr, Tezcan K, Schaefer GB, Danylchuk NR, Asamoah A, Jackson KE, Yachelevich N, Au M, Pérez-Jurado LA… See abstract for full author list ➔ Johnson BV, et al. Among authors: marangoni m. Biol Psychiatry. 2020 Jan 15;87(2):100-112. doi: 10.1016/j.biopsych.2019.05.028. Epub 2019 Jun 29. Biol Psychiatry. 2020. PMID: 31443933 Free PMC article.
Novel inactivating follicle-stimulating hormone receptor mutations in a patient with premature ovarian insufficiency identified by next-generation sequencing gene panel analysis.
Sassi A, Désir J, Janssens V, Marangoni M, Daneels D, Gheldof A, Bonduelle M, Van Dooren S, Costagliola S, Delbaere A. Sassi A, et al. Among authors: marangoni m. F S Rep. 2020 Aug 22;1(3):193-201. doi: 10.1016/j.xfre.2020.08.008. eCollection 2020 Dec. F S Rep. 2020. PMID: 34223243 Free PMC article.
Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts.
Marangoni M, Smits G, Ceysens G, Costa E, Coulon R, Daelemans C, De Coninck C, Derisbourg S, Gajewska K, Garofalo G, Gounongbe C, Guizani M, Holoye A, Houba C, Makhoul J, Norgaard C, Regnard C, Romée S, Soto J, Stagel-Trabbia A, Van Rysselberge M, Vercoutere A, Zaytouni S, Bouri S, D'Haene N, D'Onle D, Dugauquier C, Racu ML, Rocq L, Segers V, Verocq C, Avni EF, Cassart M, Massez A, Blaumeiser B, Brischoux-Boucher E, Bulk S, De Ravel T, Debray G, Dimitrov B, Janssens S, Keymolen K, Laterre M, van Berkel K, Van Maldergem L, Vandernoot I, Vilain C, Donner C, Tecco L, Thomas D, Désir J, Abramowicz M, Migeotte I. Marangoni M, et al. Genet Med. 2022 Feb;24(2):344-363. doi: 10.1016/j.gim.2021.09.016. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906519 Free article.
Variable expressivity in Buschke-Ollendorff syndrome.
Salik D, Dupire G, Sass U, Dangoisse C, Franck D, Labadens A, Marangoni M, Vilain C, Smits G. Salik D, et al. Among authors: marangoni m. Ann Dermatol Venereol. 2022 Jun;149(2):128-131. doi: 10.1016/j.annder.2021.07.004. Epub 2021 Sep 10. Ann Dermatol Venereol. 2022. PMID: 34511237 No abstract available.
Case Report: Homozygous Pathogenic Variant P209L in the TTC21B Gene: A Rare Cause of End Stage Renal Disease and Biliary Cirrhosis Requiring Combined Liver-Kidney Transplantation. A Case Report and Literature Review.
Gambino G, Catalano C, Marangoni M, Geers C, Moine AL, Boon N, Smits G, Ghisdal L. Gambino G, et al. Among authors: marangoni m. Front Med (Lausanne). 2021 Dec 10;8:795216. doi: 10.3389/fmed.2021.795216. eCollection 2021. Front Med (Lausanne). 2021. PMID: 34957165 Free PMC article.
129 results