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  1. White, Lauren K. [Author]; Crowley, Terrence Blaine [Author]; Finucane, Brenda M. [Author]; García-Miñaúr, Sixto [Author]; Repetto, Gabriela L. [Author]; Bree, Marianne B.M. van den [Author]; Fischer, Matthias O. [Author]

    The COVID-19 pandemic's impact on worry and medical disruptions reported by individuals with chromosome 22q11.2 copy number variants and their caregivers

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    April 2022

    Published in: Journal of intellectual disability research ; 66(2022), 4, Seite 313-322

  2. García-Miñaúr, Sixto [Author]; Burkitt-Wright, Emma [Author]; Verloes, Alain [Author]; Shaikh, Guftar [Author]; Lebl, Jan [Author]; Östman-Smith, Ingegerd [Author]; Wolf, Cordula Maria [Author]; Castelló, Eduardo Ortega [Author]; Tartaglia, Marco [Author]; Zenker, Martin [Author]; Edouard, Thomas [Author]

    European Medical Education Initiative on Noonan syndrome : A clinical practice survey assessing the diagnosis and clinical management of individuals with Noonan syndrome across Europe

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    2022

    Published in: European journal of medical genetics ; 65(2022), 1, Artikel-ID 104371

  3. Wolf, Cordula Maria [Author]; Zenker, Martin [Author]; Burkitt-Wright, Emma [Author]; Edouard, Thomas [Author]; García-Miñaúr, Sixto [Author]; Lebl, Jan [Author]; Shaikh, Guftar [Author]; Tartaglia, Marco [Author]; Verloes, Alain [Author]; Östman-Smith, Ingegerd [Author]

    Management of cardiac aspects in children with Noonan syndrome : results from a European clinical practice survey among paediatric cardiologists

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    2022

    Published in: European journal of medical genetics ; 65(2022), 1, Artikel-ID 104372

  4. Edouard, Thomas [Author]; Zenker, Martin [Author]; Östman-Smith, Ingegerd [Author]; Castelló, Eduardo Ortega [Author]; Wolf, Cordula Maria [Author]; Burkitt-Wright, Emma [Author]; Verloes, Alain [Author]; García-Miñaúr, Sixto [Author]; Tartaglia, Marco [Author]; Shaikh, Guftar [Author]; Lebl, Jan [Author]

    Management of growth failure and other endocrine aspects in patients with Noonan syndrome across Europe : a sub-analysis of a European clinical practice survey

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    2022

    Published in: European journal of medical genetics ; 65(2022), 1, Artikel-ID 104404

  5. Garcia-Minaur, Sixto

    Reply to the letter to the editor by Mart�nez-Fr�as et al.??It is necessary to perform high-resolution band chromosomes in any child with malformations, before making a diagnosis or establishing a possible relationship with any risk factor?

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    Wiley, 2001

    Published in: American Journal of Medical Genetics, 101 (2001) 1, Seite 81-81

  9. Tenorio, Jair; Arias, Pedro; Martínez-Glez, Víctor; Santos, Fernando; García-Miñaur, Sixto; Nevado, Julián; Lapunzina, Pablo

    Simpson-Golabi-Behmel syndrome types I and II

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    Springer Science and Business Media LLC, 2014

    Published in: Orphanet Journal of Rare Diseases, 9 (2014) 1

  10. Bastida, Pilar; García-Miñaúr, Sixto; Ezquieta, Begoña; Dapena, José Luis; Sanchez de Toledo, José

    Myeloproliferative Disorder in Noonan Syndrome

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    Ovid Technologies (Wolters Kluwer Health), 2011

    Published in: Journal of Pediatric Hematology/Oncology, 33 (2011) 1, Seite e43-e45

  11. Garcia-Minaur, Sixto; Oliver, Francisco; Yanez, Jose Maria; Soriano, Juan Rodriguez; Quinn, Feargal; Reardon, William

    Three new European cases of urofacial (Ochoa) syndrome

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    Ovid Technologies (Wolters Kluwer Health), 2001

    Published in: Clinical Dysmorphology, 10 (2001) 3, Seite 165-170

  16. Ballesta‐Martínez, Maria Juliana; López‐González, Vanesa; Dulcet, Lluis Armengol; Rodríguez‐Santiago, Benjamín; Garcia‐Miñaúr, Sixto; Guillen‐Navarro, Encarna

    Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication

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    Wiley, 2013

    Published in: American Journal of Medical Genetics Part A, 161 (2013) 8, Seite 2030-2035

  17. Eggermann, Thomas; Begemann, Matthias; Gogiel, Magdalena; Palomares, María; Vallespín, Elena; Fernández, Luis; Cazorla, Rosario; Spengler, Sabrina; García‐Miñaúr, Sixto

    Heterogeneous growth patterns in carriers of chromosome 7p12.2 imbalances affecting GRB10

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    Wiley, 2012

    Published in: American Journal of Medical Genetics Part A, 158A (2012) 11, Seite 2815-2819

  18. Garcia-Miñaur, Sixto; Ramsay, Jacqueline; Grace, Elizabeth; Minns, Robert A.; Myles, Lynn M.; FitzPatrick, David R.

    Interstitial deletion of the long arm of chromosome 5 in a boy with multiple congenital anomalies and mental retardation: Molecular characterization of the deleted region to 5q22.3q23.3 : Interstitial Deletion 5q22.3q23.3

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    Wiley, 2005

    Published in: American Journal of Medical Genetics Part A, 132A (2005) 4, Seite 402-410

  19. López, María; García-Oguiza, Alberto; Armstrong, Judith; García-Cobaleda, Inmaculada; García-Miñaur, Sixto; Santos-Simarro, Fernando; Seidel, Verónica; Domínguez-Garrido, Elena

    Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum

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    Springer Science and Business Media LLC, 2018

    Published in: BMC Medical Genetics, 19 (2018) 1

  20. Henríquez-Recine, María Angélica; Marquina-Lima, Kelly Sonia; Vallespín-García, Elena; García-Miñaur, Sixto; Benitez Del Castillo, José Manuel; Boto de los Bueis, Ana

    Correction to: Heredity and in vivo confocal microscopy of punctiform and polychromatic pre-Descemet dystrophy

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    Springer Science and Business Media LLC, 2019

    Published in: Graefe's Archive for Clinical and Experimental Ophthalmology, 257 (2019) 5, Seite 1059-1059