Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

325 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
LHX2 haploinsufficiency causes a variable neurodevelopmental disorder.
Schmid CM, Gregor A, Costain G, Morel CF, Massingham L, Schwab J, Quélin C, Faoucher M, Kaplan J, Procopio R, Saunders CJ, Cohen ASA, Lemire G, Sacharow S, O'Donnell-Luria A, Segal RJ, Kianmahd Shamshoni J, Schweitzer D, Ebrahimi-Fakhari D, Monaghan K, Palculict TB, Napier MP, Tao A, Isidor B, Moradkhani K, Reis A, Sticht H; Care4Rare Canada; Chung WK, Zweier C. Schmid CM, et al. Among authors: gregor a. Genet Med. 2023 Jul;25(7):100839. doi: 10.1016/j.gim.2023.100839. Epub 2023 Apr 11. Genet Med. 2023. PMID: 37057675 Free article.
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.
Zweier M, Gregor A, Zweier C, Engels H, Sticht H, Wohlleber E, Bijlsma EK, Holder SE, Zenker M, Rossier E, Grasshoff U, Johnson DS, Robertson L, Firth HV; Cornelia Kraus; Ekici AB, Reis A, Rauch A. Zweier M, et al. Among authors: gregor a. Hum Mutat. 2010 Jun;31(6):722-33. doi: 10.1002/humu.21253. Hum Mutat. 2010. PMID: 20513142
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1.
Gregor A, Albrecht B, Bader I, Bijlsma EK, Ekici AB, Engels H, Hackmann K, Horn D, Hoyer J, Klapecki J, Kohlhase J, Maystadt I, Nagl S, Prott E, Tinschert S, Ullmann R, Wohlleber E, Woods G, Reis A, Rauch A, Zweier C. Gregor A, et al. BMC Med Genet. 2011 Aug 9;12:106. doi: 10.1186/1471-2350-12-106. BMC Med Genet. 2011. PMID: 21827697 Free PMC article.
De novo mutations in the genome organizer CTCF cause intellectual disability.
Gregor A, Oti M, Kouwenhoven EN, Hoyer J, Sticht H, Ekici AB, Kjaergaard S, Rauch A, Stunnenberg HG, Uebe S, Vasileiou G, Reis A, Zhou H, Zweier C. Gregor A, et al. Am J Hum Genet. 2013 Jul 11;93(1):124-31. doi: 10.1016/j.ajhg.2013.05.007. Epub 2013 Jun 6. Am J Hum Genet. 2013. PMID: 23746550 Free PMC article.
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.
Straub J, Konrad EDH, Grüner J, Toutain A, Bok LA, Cho MT, Crawford HP, Dubbs H, Douglas G, Jobling R, Johnson D, Krock B, Mikati MA, Nesbitt A, Nicolai J, Phillips M, Poduri A, Ortiz-Gonzalez XR, Powis Z, Santani A, Smith L, Stegmann APA, Stumpel C, Vreeburg M; Deciphering Developmental Disorders Study; Fliedner A, Gregor A, Sticht H, Zweier C. Straub J, et al. Among authors: gregor a. Am J Hum Genet. 2018 Jan 4;102(1):44-57. doi: 10.1016/j.ajhg.2017.11.008. Epub 2017 Dec 21. Am J Hum Genet. 2018. PMID: 29276004 Free PMC article.
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.
Gregor A, Sadleir LG, Asadollahi R, Azzarello-Burri S, Battaglia A, Ousager LB, Boonsawat P, Bruel AL, Buchert R, Calpena E, Cogné B, Dallapiccola B, Distelmaier F, Elmslie F, Faivre L, Haack TB, Harrison V, Henderson A, Hunt D, Isidor B, Joset P, Kumada S, Lachmeijer AMA, Lees M, Lynch SA, Martinez F, Matsumoto N, McDougall C, Mefford HC, Miyake N, Myers CT, Moutton S, Nesbitt A, Novelli A, Orellana C, Rauch A, Rosello M, Saida K, Santani AB, Sarkar A, Scheffer IE, Shinawi M, Steindl K, Symonds JD, Zackai EH; University of Washington Center for Mendelian Genomics; DDD Study; Reis A, Sticht H, Zweier C. Gregor A, et al. Am J Hum Genet. 2018 Aug 2;103(2):305-316. doi: 10.1016/j.ajhg.2018.07.003. Epub 2018 Jul 26. Am J Hum Genet. 2018. PMID: 30057029 Free PMC article.
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.
Konrad EDH, Nardini N, Caliebe A, Nagel I, Young D, Horvath G, Santoro SL, Shuss C, Ziegler A, Bonneau D, Kempers M, Pfundt R, Legius E, Bouman A, Stuurman KE, Õunap K, Pajusalu S, Wojcik MH, Vasileiou G, Le Guyader G, Schnelle HM, Berland S, Zonneveld-Huijssoon E, Kersten S, Gupta A, Blackburn PR, Ellingson MS, Ferber MJ, Dhamija R, Klee EW, McEntagart M, Lichtenbelt KD, Kenney A, Vergano SA, Abou Jamra R, Platzer K, Ella Pierpont M, Khattar D, Hopkin RJ, Martin RJ, Jongmans MCJ, Chang VY, Martinez-Agosto JA, Kuismin O, Kurki MI, Pietiläinen O, Palotie A, Maarup TJ, Johnson DS, Venborg Pedersen K, Laulund LW, Lynch SA, Blyth M, Prescott K, Canham N, Ibitoye R, Brilstra EH, Shinawi M, Fassi E; DDD Study; Sticht H, Gregor A, Van Esch H, Zweier C. Konrad EDH, et al. Among authors: gregor a. Genet Med. 2019 Dec;21(12):2723-2733. doi: 10.1038/s41436-019-0585-z. Epub 2019 Jun 26. Genet Med. 2019. PMID: 31239556 Free PMC article.
325 results