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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

132 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.
Szakszon K, Lourenco CM, Callewaert BL, Geneviève D, Rouxel F, Morin D, Denommé-Pichon AS, Vitobello A, Patterson WG, Louie R, Pinto E Vairo F, Klee E, Kaiwar C, Gavrilova RH, Agre KE, Jacquemont S, Khadijé J, Giltay J, van Gassen K, Merő G, Gerkes E, Van Bon BW, Rinne T, Pfundt R, Brunner HG, Caluseriu O, Grasshoff U, Kehrer M, Haack TB, Khelifa MM, Bergmann AK, Cueto-González AM, Martorell AC, Ramachandrappa S, Sawyer LB, Fasel P, Braun D, Isis A, Superti-Furga A, McNiven V, Chitayat D, Ahmed SA, Brennenstuhl H, Schwaibolf EM, Battisti G, Parmentier B, Stevens SJC. Szakszon K, et al. Among authors: callewaert bl. J Med Genet. 2024 Jan 19;61(2):132-141. doi: 10.1136/jmg-2022-109030. J Med Genet. 2024. PMID: 37580113
LTBP1 promotes fibrillin incorporation into the extracellular matrix.
Przyklenk M, Georgieva VS, Metzen F, Mostert S, Kobbe B, Callewaert B, Sengle G, Brachvogel B, Mecham RP, Paulsson M, Wagener R, Koch M, Schiavinato A. Przyklenk M, et al. Matrix Biol. 2022 Jun;110:60-75. doi: 10.1016/j.matbio.2022.04.004. Epub 2022 Apr 19. Matrix Biol. 2022. PMID: 35452817
Aneurysm syndromes caused by mutations in the TGF-beta receptor.
Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco MA, Pyeritz RE, Milewicz DM, Coucke PJ, Cameron DE, Braverman AC, Byers PH, De Paepe AM, Dietz HC. Loeys BL, et al. Among authors: callewaert bl. N Engl J Med. 2006 Aug 24;355(8):788-98. doi: 10.1056/NEJMoa055695. N Engl J Med. 2006. PMID: 16928994 Free article.
GLUT10-Lacking in Arterial Tortuosity Syndrome-Is Localized to the Endoplasmic Reticulum of Human Fibroblasts.
Gamberucci A, Marcolongo P, Németh CE, Zoppi N, Szarka A, Chiarelli N, Hegedűs T, Ritelli M, Carini G, Willaert A, Callewaert BL, Coucke PJ, Benedetti A, Margittai É, Fulceri R, Bánhegyi G, Colombi M. Gamberucci A, et al. Among authors: callewaert bl. Int J Mol Sci. 2017 Aug 22;18(8):1820. doi: 10.3390/ijms18081820. Int J Mol Sci. 2017. PMID: 28829359 Free PMC article.
Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.
Hadj-Rabia S, Callewaert BL, Bourrat E, Kempers M, Plomp AS, Layet V, Bartholdi D, Renard M, De Backer J, Malfait F, Vanakker OM, Coucke PJ, De Paepe AM, Bodemer C. Hadj-Rabia S, et al. Among authors: callewaert bl. Orphanet J Rare Dis. 2013 Feb 25;8:36. doi: 10.1186/1750-1172-8-36. Orphanet J Rare Dis. 2013. PMID: 23442826 Free PMC article.
132 results