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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1955 1
1983 1
1984 2
1986 1
1987 3
1988 6
1989 2
1990 9
1991 6
1992 4
1993 5
1994 4
1995 3
1996 2
1997 4
1998 4
1999 7
2000 2
2001 2
2002 5
2004 3
2005 2
2006 4
2007 3
2008 3
2009 3
2010 2
2011 3
2012 4
2013 6
2014 3
2015 4
2017 1
2018 1
2019 3
2020 2
2022 1
2024 2

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114 results

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Page 1
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Carapito R, Ivanova EL, Morlon A, Meng L, Molitor A, Erdmann E, Kieffer B, Pichot A, Naegely L, Kolmer A, Paul N, Hanauer A, Tran Mau-Them F, Jean-Marçais N, Hiatt SM, Cooper GM, Tvrdik T, Muir AM, Dimartino C, Chopra M, Amiel J, Gordon CT, Dutreux F, Garde A, Thauvin-Robinet C, Wang X, Leduc MS, Phillips M, Crawford HP, Kukolich MK, Hunt D, Harrison V, Kharbanda M; Deciphering Developmental Disorders Study; University of Washington Center for Mendelian Genomics; Smigiel R, Gold N, Hung CY, Viskochil DH, Dugan SL, Bayrak-Toydemir P, Joly-Helas G, Guerrot AM, Schluth-Bolard C, Rio M, Wentzensen IM, McWalter K, Schnur RE, Lewis AM, Lalani SR, Mensah-Bonsu N, Céraline J, Sun Z, Ploski R, Bacino CA, Mefford HC, Faivre L, Bodamer O, Chelly J, Isidor B, Bahram S. Carapito R, et al. Among authors: hanauer a. Am J Hum Genet. 2019 Feb 7;104(2):319-330. doi: 10.1016/j.ajhg.2018.12.007. Epub 2019 Jan 10. Am J Hum Genet. 2019. PMID: 30639322 Free PMC article.
Coffin-Lowry syndrome.
Pereira PM, Schneider A, Pannetier S, Heron D, Hanauer A. Pereira PM, et al. Among authors: hanauer a. Eur J Hum Genet. 2010 Jun;18(6):627-33. doi: 10.1038/ejhg.2009.189. Epub 2009 Nov 4. Eur J Hum Genet. 2010. PMID: 19888300 Free PMC article. Review.
A pleiotropic recurrent dominant ITPR3 variant causes a complex multisystemic disease.
Molitor A, Lederle A, Radosavljevic M, Sapuru V, Zavorka Thomas ME, Yang J, Shirin M, Collin-Bund V, Jerabkova-Roda K, Miao Z, Bernard A, Rolli V, Grenot P, Castro CN, Rosenzwajg M, Lewis EG, Person R, Esperón-Moldes US, Kaare M, Nokelainen PT, Batzir NA, Hoffer GZ, Paul N, Stemmelen T, Naegely L, Hanauer A, Bibi-Triki S, Grün S, Jung S, Busnelli I, Tripolszki K, Al-Ali R, Ordonez N, Bauer P, Song E, Zajo K, Partida-Sanchez S, Robledo-Avila F, Kumanovics A, Louzoun Y, Hirschler A, Pichot A, Toker O, Mejía CAM, Parvaneh N, Knapp E, Hersh JH, Kenney H, Delmonte OM, Notarangelo LD, Goetz JG, Kahwash SB, Carapito C, Bajwa RPS, Thomas C, Ehl S, Isidor B, Carapito R, Abraham RS, Hite RK, Marcus N, Bertoli-Avella A, Bahram S. Molitor A, et al. Among authors: hanauer a. Sci Adv. 2024 Sep 13;10(37):eado5545. doi: 10.1126/sciadv.ado5545. Epub 2024 Sep 13. Sci Adv. 2024. PMID: 39270020 Free PMC article.
Stimulus-induced drop episodes in Coffin-Lowry syndrome.
Hahn JS, Hanauer A. Hahn JS, et al. Among authors: hanauer a. Eur J Med Genet. 2012 May;55(5):335-7. doi: 10.1016/j.ejmg.2012.03.004. Epub 2012 Mar 21. Eur J Med Genet. 2012. PMID: 22490425 Review.
RSK2 is a modulator of craniofacial development.
Laugel-Haushalter V, Paschaki M, Marangoni P, Pilgram C, Langer A, Kuntz T, Demassue J, Morkmued S, Choquet P, Constantinesco A, Bornert F, Schmittbuhl M, Pannetier S, Viriot L, Hanauer A, Dollé P, Bloch-Zupan A. Laugel-Haushalter V, et al. Among authors: hanauer a. PLoS One. 2014 Jan 8;9(1):e84343. doi: 10.1371/journal.pone.0084343. eCollection 2014. PLoS One. 2014. PMID: 24416220 Free PMC article.
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Carapito R, Ivanova EL, Morlon A, Meng L, Molitor A, Erdmann E, Kieffer B, Pichot A, Naegely L, Kolmer A, Paul N, Hanauer A, Tran Mau-Them F, Jean-Marçais N, Hiatt SM, Cooper GM, Tvrdik T, Muir AM, Dimartino C, Chopra M, Amiel J, Gordon CT, Dutreux F, Garde A, Thauvin-Robinet C, Wang X, Leduc MS, Phillips M, Crawford HP, Kukolich MK, Hunt D, Harrison V, Kharbanda M; Deciphering Developmental Disorders Study; University of Washington Center for Mendelian Genomics; Smigiel R, Gold N, Hung CY, Viskochil DH, Dugan SL, Bayrak-Toydemir P, Joly-Helas G, Guerrot AM, Schluth-Bolard C, Rio M, Wentzensen IM, McWalter K, Schnur RE, Lewis AM, Lalani SR, Mensah-Bonsu N, Céraline J, Sun Z, Ploski R, Bacino CA, Mefford HC, Faivre L, Bodamer O, Chelly J, Isidor B, Bahram S. Carapito R, et al. Among authors: hanauer a. Am J Hum Genet. 2020 Jan 2;106(1):137. doi: 10.1016/j.ajhg.2019.11.014. Epub 2019 Dec 24. Am J Hum Genet. 2020. PMID: 31879022 Free PMC article. No abstract available.
Prenatal diagnosis of Friedreich ataxia.
Hanauer A, Fujita R, Trouillas P, Tommasi-Davenas C, Agid Y, Seck A, Mandel JL. Hanauer A, et al. Lancet. 1990 May 5;335(8697):1102. doi: 10.1016/0140-6736(90)92679-c. Lancet. 1990. PMID: 1970404 No abstract available.
114 results