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Items: 11

1.

Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings.

Danyel M, Cheng Z, Jung C, Boschann F, Pantel JT, Hajjir N, Flöttmann R, Schulz S, Demuth I, Sheridan E, Mundlos S, Horn D, Mensah MA.

Eur J Hum Genet. 2019 Jul 18. doi: 10.1038/s41431-019-0469-3. [Epub ahead of print]

PMID:
31320746
2.

PEDIA: prioritization of exome data by image analysis.

Hsieh TC, Mensah MA, Pantel JT, Aguilar D, Bar O, Bayat A, Becerra-Solano L, Bentzen HB, Biskup S, Borisov O, Braaten O, Ciaccio C, Coutelier M, Cremer K, Danyel M, Daschkey S, Eden HD, Devriendt K, Wilson S, Douzgou S, Đukić D, Ehmke N, Fauth C, Fischer-Zirnsak B, Fleischer N, Gabriel H, Graul-Neumann L, Gripp KW, Gurovich Y, Gusina A, Haddad N, Hajjir N, Hanani Y, Hertzberg J, Hoertnagel K, Howell J, Ivanovski I, Kaindl A, Kamphans T, Kamphausen S, Karimov C, Kathom H, Keryan A, Knaus A, Köhler S, Kornak U, Lavrov A, Leitheiser M, Lyon GJ, Mangold E, Reina PM, Carrascal AM, Mitter D, Herrador LM, Nadav G, Nöthen M, Orrico A, Ott CE, Park K, Peterlin B, Pölsler L, Raas-Rothschild A, Randolph L, Revencu N, Fagerberg CR, Robinson PN, Rosnev S, Rudnik S, Rudolf G, Schatz U, Schossig A, Schubach M, Shanoon O, Sheridan E, Smirin-Yosef P, Spielmann M, Suk EK, Sznajer Y, Thiel CT, Thiel G, Verloes A, Vrecar I, Wahl D, Weber I, Winter K, Wiśniewska M, Wollnik B, Yeung MW, Zhao M, Zhu N, Zschocke J, Mundlos S, Horn D, Krawitz PM.

Genet Med. 2019 Jun 5. doi: 10.1038/s41436-019-0566-2. [Epub ahead of print]

PMID:
31164752
3.

Pathogenic Variants in GPC4 Cause Keipert Syndrome.

Amor DJ, Stephenson SEM, Mustapha M, Mensah MA, Ockeloen CW, Lee WS, Tankard RM, Phelan DG, Shinawi M, de Brouwer APM, Pfundt R, Dowling C, Toler TL, Sutton VR, Agolini E, Rinelli M, Capolino R, Martinelli D, Zampino G, Dumić M, Reardon W, Shaw-Smith C, Leventer RJ, Delatycki MB, Kleefstra T, Mundlos S, Mortier G, Bahlo M, Allen NJ, Lockhart PJ.

Am J Hum Genet. 2019 May 2;104(5):914-924. doi: 10.1016/j.ajhg.2019.02.026. Epub 2019 Apr 11.

PMID:
30982611
4.

Microcephaly, short stature, and limb abnormality disorder due to novel autosomal biallelic DONSON mutations in two German siblings.

Schulz S, Mensah MA, de Vries H, Fröber R, Romeike B, Schneider U, Borte S, Schindler D, Kentouche K.

Eur J Hum Genet. 2018 Sep;26(9):1282-1287. doi: 10.1038/s41431-018-0128-0. Epub 2018 May 14.

PMID:
29760432
5.

Engaging Men in Family Planning: Perspectives From Married Men in Lomé, Togo.

Koffi TB, Weidert K, Ouro Bitasse E, Mensah MAE, Emina J, Mensah S, Bongiovanni A, Prata N.

Glob Health Sci Pract. 2018 Jun 29;6(2):317-329. doi: 10.9745/GHSP-D-17-00471. Print 2018 Jun 27. Erratum in: Glob Health Sci Pract. 2018 Oct 4;6(3):618.

6.

Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism.

Pantel JT, Zhao M, Mensah MA, Hajjir N, Hsieh TC, Hanani Y, Fleischer N, Kamphans T, Mundlos S, Gurovich Y, Krawitz PM.

J Inherit Metab Dis. 2018 May;41(3):533-539. doi: 10.1007/s10545-018-0174-3. Epub 2018 Apr 5.

7.

Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome.

Graul-Neumann LM, Mensah MA, Klopocki E, Uebe S, Ekici AB, Thiel CT, Reis A, Zweier C.

Eur J Med Genet. 2018 Jul;61(7):363-368. doi: 10.1016/j.ejmg.2018.01.016. Epub 2018 Jan 31.

PMID:
29407414
8.

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.

Piard J, Lespinasse J, Vlckova M, Mensah MA, Iurian S, Simandlova M, Malikova M, Bartsch O, Rossi M, Lenoir M, Nugues F, Mundlos S, Kornak U, Stanier P, Sousa SB, Van Maldergem L.

Am J Med Genet A. 2018 Mar;176(3):668-675. doi: 10.1002/ajmg.a.38604. Epub 2018 Jan 17. Review.

9.

Mutation c.943G>T (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family.

Graul-Neumann LM, Klopocki E, Adolphs N, Mensah MA, Kress W.

Mol Syndromol. 2017 Mar;8(2):93-97. doi: 10.1159/000455028. Epub 2017 Jan 13.

10.

Pseudoautosomal region 1 length polymorphism in the human population.

Mensah MA, Hestand MS, Larmuseau MH, Isrie M, Vanderheyden N, Declercq M, Souche EL, Van Houdt J, Stoeva R, Van Esch H, Devriendt K, Voet T, Decorte R, Robinson PN, Vermeesch JR.

PLoS Genet. 2014 Nov 6;10(11):e1004578. doi: 10.1371/journal.pgen.1004578. eCollection 2014 Nov. Erratum in: PLoS Genet. 2014 Dec;10(12):e1004889.

11.

A low-cost simulator for learning to manage postpartum hemorrhage in rural Africa.

Perosky J, Richter R, Rybak O, Gans-Larty F, Mensah MA, Danquah A, Debpuur D, Kolbilla D, Ofosu A, Anderson F, Marzano D, Andreatta P.

Simul Healthc. 2011 Feb;6(1):42-7. doi: 10.1097/SIH.0b013e3181ebbcfd.

PMID:
21330849

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