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

295 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Novel no-stop FLNA mutation causes multi-organ involvement in males.
Oegema R, Hulst JM, Theuns-Valks SD, van Unen LM, Schot R, Mancini GM, Schipper ME, de Wit MC, Sibbles BJ, de Coo IF, Nanninga V, Hofstra RM, Halley DJ, Brooks AS. Oegema R, et al. Among authors: hofstra rm. Am J Med Genet A. 2013 Sep;161A(9):2376-84. doi: 10.1002/ajmg.a.36109. Epub 2013 Jul 19. Am J Med Genet A. 2013. PMID: 23873601
Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.
Brooks AS, Bertoli-Avella AM, Burzynski GM, Breedveld GJ, Osinga J, Boven LG, Hurst JA, Mancini GM, Lequin MH, de Coo RF, Matera I, de Graaff E, Meijers C, Willems PJ, Tibboel D, Oostra BA, Hofstra RM. Brooks AS, et al. Among authors: hofstra rm. Am J Hum Genet. 2005 Jul;77(1):120-6. doi: 10.1086/431244. Epub 2005 May 9. Am J Hum Genet. 2005. PMID: 15883926 Free PMC article.
ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
Halim D, Hofstra RM, Signorile L, Verdijk RM, van der Werf CS, Sribudiani Y, Brouwer RW, van IJcken WF, Dahl N, Verheij JB, Baumann C, Kerner J, van Bever Y, Galjart N, Wijnen RM, Tibboel D, Burns AJ, Muller F, Brooks AS, Alves MM. Halim D, et al. Among authors: hofstra rm. Hum Mol Genet. 2016 Feb 1;25(3):571-83. doi: 10.1093/hmg/ddv497. Epub 2015 Dec 8. Hum Mol Genet. 2016. PMID: 26647307
Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP.
MacKenzie KC, de Graaf BM, Syrimis A, Zhao Y, Brosens E, Mancini GMS, Schot R, Halley D, Wilke M, Vøllo A, Flinter F, Green A, Mansour S, Pilch J, Stark Z, Zamba-Papanicolaou E, Christophidou-Anastasiadou V, Hofstra RMW, Jongbloed JDH, Nicolaou N, Tanteles GA, Brooks AS, Alves MM. MacKenzie KC, et al. Hum Mutat. 2020 Nov;41(11):1906-1917. doi: 10.1002/humu.24097. Epub 2020 Sep 16. Hum Mutat. 2020. PMID: 32939943 Free PMC article.
Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.
Le TL, Galmiche L, Levy J, Suwannarat P, Hellebrekers DM, Morarach K, Boismoreau F, Theunissen TE, Lefebvre M, Pelet A, Martinovic J, Gelot A, Guimiot F, Calleroz A, Gitiaux C, Hully M, Goulet O, Chardot C, Drunat S, Capri Y, Bole-Feysot C, Nitschké P, Whalen S, Mouthon L, Babcock HE, Hofstra R, de Coo IF, Tabet AC, Molina TJ, Keren B, Brooks A, Smeets HJ, Marklund U, Gordon CT, Lyonnet S, Amiel J, Bondurand N. Le TL, et al. J Clin Invest. 2021 Mar 15;131(6):e145837. doi: 10.1172/JCI145837. J Clin Invest. 2021. PMID: 33497358 Free PMC article.
Identifying candidate Hirschsprung disease-associated RET variants.
Burzynski GM, Nolte IM, Bronda A, Bos KK, Osinga J, Plaza Menacho I, Twigt B, Maas S, Brooks AS, Verheij JB, Buys CH, Hofstra RM. Burzynski GM, et al. Among authors: hofstra rm. Am J Hum Genet. 2005 May;76(5):850-8. doi: 10.1086/429589. Epub 2005 Mar 9. Am J Hum Genet. 2005. PMID: 15759212 Free PMC article.
The long Filamin-A isoform is required for intestinal development and motility: implications for chronic intestinal pseudo-obstruction.
Zada A, Zhao Y, Halim D, Windster J, van der Linde HC, Glodener J, Overkleeft S, de Graaf BM, Verdijk RM, Brooks AS, Shepherd I, Gao Y, Burns AJ, Hofstra RMW, Alves MM. Zada A, et al. Among authors: hofstra rmw. Hum Mol Genet. 2023 Jan 1;32(1):151-160. doi: 10.1093/hmg/ddac199. Hum Mol Genet. 2023. PMID: 35981053 Free PMC article.
295 results