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

55 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study.
Groeneweg S, van Geest FS, Abacı A, Alcantud A, Ambegaonkar GP, Armour CM, Bakhtiani P, Barca D, Bertini ES, van Beynum IM, Brunetti-Pierri N, Bugiani M, Cappa M, Cappuccio G, Castellotti B, Castiglioni C, Chatterjee K, de Coo IFM, Coutant R, Craiu D, Crock P, DeGoede C, Demir K, Dica A, Dimitri P, Dolcetta-Capuzzo A, Dremmen MHG, Dubey R, Enderli A, Fairchild J, Gallichan J, George B, Gevers EF, Hackenberg A, Halász Z, Heinrich B, Huynh T, Kłosowska A, van der Knaap MS, van der Knoop MM, Konrad D, Koolen DA, Krude H, Lawson-Yuen A, Lebl J, Linder-Lucht M, Lorea CF, Lourenço CM, Lunsing RJ, Lyons G, Malikova J, Mancilla EE, McGowan A, Mericq V, Lora FM, Moran C, Müller KE, Oliver-Petit I, Paone L, Paul PG, Polak M, Porta F, Poswar FO, Reinauer C, Rozenkova K, Menevse TS, Simm P, Simon A, Singh Y, Spada M, van der Spek J, Stals MAM, Stoupa A, Subramanian GM, Tonduti D, Turan S, den Uil CA, Vanderniet J, van der Walt A, Wémeau JL, Wierzba J, de Wit MY, Wolf NI, Wurm M, Zibordi F, Zung A, Zwaveling-Soonawala N, Visser WE. Groeneweg S, et al. Among authors: dremmen mhg. Lancet Diabetes Endocrinol. 2020 Jul;8(7):594-605. doi: 10.1016/S2213-8587(20)30153-4. Lancet Diabetes Endocrinol. 2020. PMID: 32559475 Free PMC article.
Incidental Findings on Brain Imaging in the General Pediatric Population.
Jansen PR, Dremmen M, van den Berg A, Dekkers IA, Blanken LME, Muetzel RL, Bolhuis K, Mulder RM, Kocevska D, Jansen TA, de Wit MY, Neuteboom RF, Polderman TJC, Posthuma D, Jaddoe VWV, Verhulst FC, Tiemeier H, van der Lugt A, White TJH. Jansen PR, et al. N Engl J Med. 2017 Oct 19;377(16):1593-1595. doi: 10.1056/NEJMc1710724. N Engl J Med. 2017. PMID: 29045203 No abstract available.
Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis.
Vandervore LV, Schot R, Hoogeboom AJM, Lincke C, de Coo IF, Lequin MH, Dremmen M, van Unen LMA, Saris JJ, Jansen AC, van Slegtenhorst MA, Wilke M, Mancini GMS. Vandervore LV, et al. Eur J Med Genet. 2018 Dec;61(12):783-789. doi: 10.1016/j.ejmg.2018.10.018. Epub 2018 Oct 31. Eur J Med Genet. 2018. PMID: 30391508
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
Magini P, Smits DJ, Vandervore L, Schot R, Columbaro M, Kasteleijn E, van der Ent M, Palombo F, Lequin MH, Dremmen M, de Wit MCY, Severino M, Divizia MT, Striano P, Ordonez-Herrera N, Alhashem A, Al Fares A, Al Ghamdi M, Rolfs A, Bauer P, Demmers J, Verheijen FW, Wilke M, van Slegtenhorst M, van der Spek PJ, Seri M, Jansen AC, Stottmann RW, Hufnagel RB, Hopkin RJ, Aljeaid D, Wiszniewski W, Gawlinski P, Laure-Kamionowska M, Alkuraya FS, Akleh H, Stanley V, Musaev D, Gleeson JG, Zaki MS, Brunetti-Pierri N, Cappuccio G, Davidov B, Basel-Salmon L, Bazak L, Shahar NR, Bertoli-Avella A, Mirzaa GM, Dobyns WB, Pippucci T, Fornerod M, Mancini GMS. Magini P, et al. Am J Hum Genet. 2019 Oct 3;105(4):689-705. doi: 10.1016/j.ajhg.2019.08.006. Epub 2019 Sep 5. Am J Hum Genet. 2019. PMID: 31495489 Free PMC article.
Early MRI diagnosis of Sturge Weber Syndrome type 1 in infants.
Catsman-Berrevoets CE, Koudijs SM, Buijze MSJ, de Laat PCJ, Pasmans SGMA, Dremmen MHG. Catsman-Berrevoets CE, et al. Among authors: dremmen mhg. Eur J Paediatr Neurol. 2022 May;38:66-72. doi: 10.1016/j.ejpn.2022.04.002. Epub 2022 Apr 13. Eur J Paediatr Neurol. 2022. PMID: 35461064 Free article.
Late-onset phenotype associated with a homozygous GJC2 missense mutation in a Turkish family.
Kuipers DJS, Tufekcioglu Z, Bilgiç B, Olgiati S, Dremmen MHG, van IJcken WFJ, Breedveld GJ, Mancini GMS, Hanagasi HA, Emre M, Bonifati V. Kuipers DJS, et al. Among authors: dremmen mhg. Parkinsonism Relat Disord. 2019 Sep;66:228-231. doi: 10.1016/j.parkreldis.2019.07.033. Epub 2019 Jul 31. Parkinsonism Relat Disord. 2019. PMID: 31431325
Saethre-Chotzen syndrome: long-term outcome of a syndrome-specific management protocol.
Den Ottelander BK, Van Veelen MC, De Goederen R, Van De Beeten SD, Dremmen MH, Loudon SE, Versnel SL, Van Den Ouweland AM, Van Dooren MF, Joosten KF, Mathijssen IM. Den Ottelander BK, et al. Dev Med Child Neurol. 2021 Jan;63(1):104-110. doi: 10.1111/dmcn.14670. Epub 2020 Sep 9. Dev Med Child Neurol. 2021. PMID: 32909287 Free PMC article.
Is the brain involved in patients with late-onset Pompe disease?
van den Dorpel JJA, van der Vlugt WMC, Dremmen MHG, Muetzel R, van den Berg E, Hest R, de Kriek J, Brusse E, van Doorn PA, van der Ploeg AT, van den Hout JMP, van der Beek NAME. van den Dorpel JJA, et al. Among authors: dremmen mhg. J Inherit Metab Dis. 2022 May;45(3):493-501. doi: 10.1002/jimd.12469. Epub 2022 Jan 25. J Inherit Metab Dis. 2022. PMID: 34927739 Free PMC article.
55 results