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Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.
Ostergaard P, Simpson MA, Mendola A, Vasudevan P, Connell FC, van Impel A, Moore AT, Loeys BL, Ghalamkarpour A, Onoufriadis A, Martinez-Corral I, Devery S, Leroy JG, van Laer L, Singer A, Bialer MG, McEntagart M, Quarrell O, Brice G, Trembath RC, Schulte-Merker S, Makinen T, Vikkula M, Mortimer PS, Mansour S, Jeffery S. Ostergaard P, et al. Among authors: singer a. Am J Hum Genet. 2012 Feb 10;90(2):356-62. doi: 10.1016/j.ajhg.2011.12.018. Epub 2012 Jan 26. Am J Hum Genet. 2012. PMID: 22284827 Free PMC article.
Characterization of ANGPT2 mutations associated with primary lymphedema.
Leppänen VM, Brouillard P, Korhonen EA, Sipilä T, Jha SK, Revencu N, Labarque V, Fastré E, Schlögel M, Ravoet M, Singer A, Luzzatto C, Angelone D, Crichiutti G, D'Elia A, Kuurne J, Elamaa H, Koh GY, Saharinen P, Vikkula M, Alitalo K. Leppänen VM, et al. Among authors: singer a. Sci Transl Med. 2020 Sep 9;12(560):eaax8013. doi: 10.1126/scitranslmed.aax8013. Sci Transl Med. 2020. PMID: 32908006
Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome.
Nathanson J, Swarr DT, Singer A, Liu M, Chinn A, Jones W, Hurst J, Khalek N, Zackai E, Slavotinek A. Nathanson J, et al. Among authors: singer a. Am J Med Genet A. 2013 Mar;161A(3):473-8. doi: 10.1002/ajmg.a.35736. Epub 2013 Feb 8. Am J Med Genet A. 2013. PMID: 23401257 Free PMC article.
Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients.
Lehalle D, Altunoglu U, Bruel AL, Arnaud E, Blanchet P, Choi JW, Désir J, Kiliç E, Lederer D, Pinson L, Thauvin-Robinet C, Singer A, Thevenon J, Callier P, Kayserili H, Faivre L. Lehalle D, et al. Among authors: singer a. Am J Med Genet A. 2017 Dec;173(12):3136-3142. doi: 10.1002/ajmg.a.38490. Am J Med Genet A. 2017. PMID: 29136349 Review.
Population infection estimation from wastewater surveillance for SARS-CoV-2 in Nagpur, India during the second pandemic wave.
Acheampong E, Husain AA, Dudani H, Nayak AR, Nag A, Meena E, Shrivastava SK, McClure P, Tarr AW, Crooks C, Lade R, Gomes RL, Singer A, Kumar S, Bhatnagar T, Arora S, Kashyap RS, Monaghan TM. Acheampong E, et al. Among authors: singer a. PLoS One. 2024 May 29;19(5):e0303529. doi: 10.1371/journal.pone.0303529. eCollection 2024. PLoS One. 2024. PMID: 38809825 Free PMC article.
Genetic Mapping and Phenotypic Analysis of GstE14 E.4.1 on Eye and Antennae Development in Drosophila melanogaster.
Thomson L, Shah HP, Akinwotu Adewale V, Beise A, Bliayang C, Cioch Z, Craig M, Crump A, Durdan M, Espinosa M, Feda K, Feist J, Fragoso A, Haro G, Hoffman B, Horne P, Houha N, Hounnou S, Inman A, Jakobsze D, Juarez-Morales Y, Khan Y, Kohler J, Lawlor R, Lieser B, Loitz R, Martinez E, Martinez A, Martinez M, Maza B, Mendoza B, Miller S, Mngodo H, O'Shea S, Piane SN, Raivala E, Ruger S, Singer A, Strand JE, Traylor A, Wright A, McCabe S, Pandit SS, Bieser K, Croonquist P, Taylor EE, Wittke-Thompson J, Kagey JD, Devergne O. Thomson L, et al. Among authors: singer a. MicroPubl Biol. 2024 Apr 13;2024:10.17912/micropub.biology.001019. doi: 10.17912/micropub.biology.001019. eCollection 2024. MicroPubl Biol. 2024. PMID: 38681673 Free PMC article.
1,996 results