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141 results

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Holoprosencephaly, orofacial cleft, and frontonaso-orbital encephaloceles: Genetic evaluation of a possible new syndrome.
Richieri-Costa A, Zechi-Ceide RM, Candido-Souza RM, Monteiro RAC, Tonello C, de Freitas ML, Kokitsu-Nakata NM, Vendramini-Pittoli S, Mazzeu JF, Overes M, Ali-Amin R, van Slegtenhorst M, Hoefsloot LH, Jehee FS. Richieri-Costa A, et al. Among authors: van slegtenhorst m. Am J Med Genet A. 2019 Nov;179(11):2170-2177. doi: 10.1002/ajmg.a.61305. Epub 2019 Jul 28. Am J Med Genet A. 2019. PMID: 31353810
Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features.
Stolerman ES, Francisco E, Stallworth JL, Jones JR, Monaghan KG, Keller-Ramey J, Person R, Wentzensen IM, McWalter K, Keren B, Heron B, Nava C, Heron D, Kim K, Burton B, Al-Musafri F, O'Grady L, Sahai I, Escobar LF, Meuwissen M, Reyniers E, Kooy F, Lacassie Y, Gunay-Aygun M, Schatz KS, Hochstenbach R, Zwijnenburg PJG, Waisfisz Q, van Slegtenhorst M, Mancini GMS, Louie RJ. Stolerman ES, et al. Among authors: van slegtenhorst m. Am J Med Genet A. 2019 Jul;179(7):1276-1286. doi: 10.1002/ajmg.a.61173. Epub 2019 May 23. Am J Med Genet A. 2019. PMID: 31124279
TGDS pathogenic variants cause Catel-Manzke syndrome without hyperphalangy.
Boschann F, Stuurman KE, de Bruin C, van Slegtenhorst M, van Duyvenvoorde HA, Kant SG, Ehmke N. Boschann F, et al. Among authors: van duyvenvoorde ha, van slegtenhorst m. Am J Med Genet A. 2020 Mar;182(3):431-436. doi: 10.1002/ajmg.a.61419. Epub 2019 Nov 25. Am J Med Genet A. 2020. PMID: 31769200
The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies.
Diderich KEM, Romijn K, Joosten M, Govaerts LCP, Polak M, Bruggenwirth HT, Wilke M, van Slegtenhorst MA, van Bever Y, Brooks AS, Mancini GMS, van de Laar IMBH, Kromosoeto JNR, Knapen MFCM, Go ATJI, Van Opstal D, Hoefsloot LH, Galjaard RH, Srebniak MI. Diderich KEM, et al. Among authors: van slegtenhorst ma, van de laar imbh, van bever y, van opstal d. Acta Obstet Gynecol Scand. 2021 Jun;100(6):1106-1115. doi: 10.1111/aogs.14053. Epub 2020 Dec 28. Acta Obstet Gynecol Scand. 2021. PMID: 33249554 Free PMC article.
Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant.
Rumping L, Wessels MW, Postma AV, van Schuppen J, van Slegtenhorst MA, Saris JJ, van Tintelen JP, Robertson SP, Alders M, Maas SM, Deprez RHL. Rumping L, et al. Among authors: van schuppen j, van slegtenhorst ma, van tintelen jp. Am J Med Genet A. 2021 Dec;185(12):3814-3820. doi: 10.1002/ajmg.a.62417. Epub 2021 Jul 13. Am J Med Genet A. 2021. PMID: 34254723 Free PMC article.
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.
Velmans C, O'Donnell-Luria AH, Argilli E, Tran Mau-Them F, Vitobello A, Chan MC, Fung JL, Rech M, Abicht A, Aubert Mucca M, Carmichael J, Chassaing N, Clark R, Coubes C, Denommé-Pichon AS, de Dios JK, England E, Funalot B, Gerard M, Joseph M, Kennedy C, Kumps C, Willems M, van de Laar IMBH, Aarts-Tesselaar C, van Slegtenhorst M, Lehalle D, Leppig K, Lessmeier L, Pais LS, Paterson H, Ramanathan S, Rodan LH, Superti-Furga A, Chung BHY, Sherr E, Netzer C, Schaaf CP, Erger F. Velmans C, et al. Among authors: van de laar imbh, van slegtenhorst m. J Med Genet. 2022 Jul;59(7):697-705. doi: 10.1136/jmedgenet-2020-107470. Epub 2021 Jul 28. J Med Genet. 2022. PMID: 34321323 Free PMC article.
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
Deng R, Medico-Salsench E, Nikoncuk A, Ramakrishnan R, Lanko K, Kühn NA, van der Linde HC, Lor-Zade S, Albuainain F, Shi Y, Yousefi S, Capo I, van den Herik EM, van Slegtenhorst M, van Minkelen R, Geeven G, Mulder MT, Ruijter GJG, Lütjohann D, Jacobs EH, Houlden H, Pagnamenta AT, Metcalfe K, Jackson A, Banka S, De Simone L, Schwaede A, Kuntz N, Palculict TB, Abbas S, Umair M, AlMuhaizea M, Colak D, AlQudairy H, Alsagob M, Pereira C, Trunzo R, Karageorgou V, Bertoli-Avella AM, Bauer P, Bouman A, Hoefsloot LH, van Ham TJ, Issa M, Zaki MS, Gleeson JG, Willemsen R, Kaya N, Arold ST, Maroofian R, Sanderson LE, Barakat TS. Deng R, et al. Among authors: van minkelen r, van der linde hc, van den herik em, van slegtenhorst m, van ham tj. Acta Neuropathol. 2023 Aug;146(2):353-368. doi: 10.1007/s00401-023-02579-9. Epub 2023 Apr 29. Acta Neuropathol. 2023. PMID: 37119330 Free PMC article.
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
Cheng H, Dharmadhikari AV, Varland S, Ma N, Domingo D, Kleyner R, Rope AF, Yoon M, Stray-Pedersen A, Posey JE, Crews SR, Eldomery MK, Akdemir ZC, Lewis AM, Sutton VR, Rosenfeld JA, Conboy E, Agre K, Xia F, Walkiewicz M, Longoni M, High FA, van Slegtenhorst MA, Mancini GMS, Finnila CR, van Haeringen A, den Hollander N, Ruivenkamp C, Naidu S, Mahida S, Palmer EE, Murray L, Lim D, Jayakar P, Parker MJ, Giusto S, Stracuzzi E, Romano C, Beighley JS, Bernier RA, Küry S, Nizon M, Corbett MA, Shaw M, Gardner A, Barnett C, Armstrong R, Kassahn KS, Van Dijck A, Vandeweyer G, Kleefstra T, Schieving J, Jongmans MJ, de Vries BBA, Pfundt R, Kerr B, Rojas SK, Boycott KM, Person R, Willaert R, Eichler EE, Kooy RF, Yang Y, Wu JC, Lupski JR, Arnesen T, Cooper GM, Chung WK, Gecz J, Stessman HAF, Meng L, Lyon GJ. Cheng H, et al. Among authors: van slegtenhorst ma, van haeringen a, van dijck a. Am J Hum Genet. 2018 May 3;102(5):985-994. doi: 10.1016/j.ajhg.2018.03.004. Epub 2018 Apr 12. Am J Hum Genet. 2018. PMID: 29656860 Free PMC article.
141 results