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

Results by year

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

Year Number of Results
1977 1
1980 1
1984 1
1991 2
1993 1
1994 1
1995 3
1996 5
1997 2
1998 1
1999 4
2001 1
2002 1
2003 5
2004 2
2005 1
2006 1
2007 1
2008 4
2009 2
2011 1
2012 2
2013 1
2014 3
2015 3
2016 2
2017 5
2019 3
2022 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

56 results

Results by year

Filters applied: . Clear all
Page 1
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E. Altassan R, et al. Among authors: giros m. J Inherit Metab Dis. 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. J Inherit Metab Dis. 2019. PMID: 30740725
Peroxisome mosaics.
Roels F, Saudubray JM, Giros M, Mandel H, Eyskens F, Saracibar N, Atares Pueyo B, Prats JM, De Prest B, De Preter K, Pineda M, Krystkowiak P, Gootjes J, Wanders RJ, Espeel M, Poll-The BT. Roels F, et al. Among authors: giros m. Adv Exp Med Biol. 2003;544:97-106. doi: 10.1007/978-1-4419-9072-3_14. Adv Exp Med Biol. 2003. PMID: 14713220 No abstract available.
Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature.
Cañueto J, Girós M, Ciria S, Pi-Castán G, Artigas M, García-Dorado J, García-Patos V, Virós A, Vendrell T, Torrelo A, Hernández-Martín A, Martín-Hernández E, Garcia-Silva MT, Fernández-Burriel M, Rosell J, Tejedor M, Martínez F, Valero J, García JL, Sánchez-Tapia EM, Unamuno P, González-Sarmiento R. Cañueto J, et al. Among authors: giros m. Br J Dermatol. 2012 Apr;166(4):830-8. doi: 10.1111/j.1365-2133.2011.10756.x. Epub 2012 Mar 2. Br J Dermatol. 2012. PMID: 22121851 Review.
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.
Schlüter A, Rodríguez-Palmero A, Verdura E, Vélez-Santamaría V, Ruiz M, Fourcade S, Planas-Serra L, Martínez JJ, Guilera C, Girós M, Artuch R, Yoldi ME, O'Callaghan M, García-Cazorla A, Armstrong J, Marti I, Mondragón Rezola E, Redin C, Mandel JL, Conejo D, Sierra-Córcoles C, Beltrán S, Gut M, Vázquez E, Del Toro M, Troncoso M, Pérez-Jurado LA, Gutiérrez-Solana LG, López de Munain A, Casasnovas C, Aguilera-Albesa S, Macaya A, Pujol A; GWMD working group. Schlüter A, et al. Among authors: giros m. Neurology. 2022 Mar 1;98(9):e912-e923. doi: 10.1212/WNL.0000000000013278. Epub 2022 Jan 10. Neurology. 2022. PMID: 35012964 Free PMC article.
Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.
Serrano M, de Diego V, Muchart J, Cuadras D, Felipe A, Macaya A, Velázquez R, Poo MP, Fons C, O'Callaghan MM, García-Cazorla A, Boix C, Robles B, Carratalá F, Girós M, Briones P, Gort L, Artuch R, Pérez-Cerdá C, Jaeken J, Pérez B, Pérez-Dueñas B. Serrano M, et al. Among authors: giros m. Orphanet J Rare Dis. 2015 Oct 26;10:138. doi: 10.1186/s13023-015-0358-y. Orphanet J Rare Dis. 2015. PMID: 26502900 Free PMC article.
Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia.
Bastida JM, Benito R, Janusz K, Díez-Campelo M, Hernández-Sánchez JM, Marcellini S, Girós M, Rivera J, Lozano ML, Hortal A, Hernández-Rivas JM, González-Porras JR. Bastida JM, et al. Among authors: giros m. J Thromb Haemost. 2017 Sep;15(9):1859-1866. doi: 10.1111/jth.13777. Epub 2017 Aug 5. J Thromb Haemost. 2017. PMID: 28696550 Free article. Review.
Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation.
Matalonga L, Bravo M, Serra-Peinado C, García-Pelegrí E, Ugarteburu O, Vidal S, Llambrich M, Quintana E, Fuster-Jorge P, Gonzalez-Bravo MN, Beltran S, Dopazo J, Garcia-Garcia F, Foulquier F, Matthijs G, Mills P, Ribes A, Egea G, Briones P, Tort F, Girós M. Matalonga L, et al. Among authors: giros m. Hum Mutat. 2017 Feb;38(2):148-151. doi: 10.1002/humu.23145. Epub 2016 Nov 26. Hum Mutat. 2017. PMID: 27862579
Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.
Medrano C, Vega A, Navarrete R, Ecay MJ, Calvo R, Pascual SI, Ruiz-Pons M, Toledo L, García-Jiménez I, Arroyo I, Campo A, Couce ML, Domingo-Jiménez MR, García-Silva MT, González-Gutiérrez-Solana L, Hierro L, Martín-Hernández E, Martínez-Pardo M, Roldán S, Tomás M, Cabrera JC, Mártinez-Bugallo F, Martín-Viota L, Vitoria-Miñana I, Lefeber DJ, Girós ML, Serrano Gimare M, Ugarte M, Pérez B, Pérez-Cerdá C. Medrano C, et al. Among authors: giros ml. Clin Genet. 2019 May;95(5):615-626. doi: 10.1111/cge.13508. Epub 2019 Apr 3. Clin Genet. 2019. PMID: 30653653
56 results