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Sixto García-Miñaúr
Sixto García-Miñaúr
Clinical Geneticist, Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La
Verified email at salud.madrid.org
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Cited by
Cited by
Year
Practical guidelines for managing adults with 22q11. 2 deletion syndrome
WLA Fung, NJ Butcher, G Costain, DM Andrade, E Boot, EWC Chow, ...
Genetics in Medicine 17 (8), 599-609, 2015
2952015
Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis
ZA Jenkins, M van Kogelenberg, T Morgan, A Jeffs, R Fukuzawa, E Pearl, ...
Nature genetics 41 (1), 95-100, 2009
2172009
Dominant missense mutations in ABCC9 cause Cantú syndrome
M Harakalova, JJT Van Harssel, PA Terhal, S Van Lieshout, K Duran, ...
Nature genetics 44 (7), 793-796, 2012
2072012
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum
S Banka, R Veeramachaneni, W Reardon, E Howard, S Bunstone, ...
European Journal of Human Genetics 20 (4), 381-388, 2012
1902012
Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene
DM Hagan, AJ Ross, T Strachan, SA Lynch, V Ruiz-Perez, YM Wang, ...
The American Journal of Human Genetics 66 (5), 1504-1515, 2000
1592000
Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations
P Fergelot, M Van Belzen, J Van Gils, A Afenjar, CM Armour, B Arveiler, ...
American Journal of Medical Genetics Part A 170 (12), 3069-3082, 2016
1252016
New microdeletion and microduplication syndromes: A comprehensive review
J Nevado, R Mergener, M Palomares-Bralo, KR Souza, E Vallespín, ...
Genetics and molecular biology 37, 210-219, 2014
1212014
Toward the effective surveillance of hypospadias.
H Dolk, M Vrijheid, JES Scott, MC Addor, B Botting, C de Vigan, ...
Environmental health perspectives 112 (3), 398-402, 2004
1172004
Mutations in HPSE2 cause urofacial syndrome
SB Daly, JE Urquhart, E Hilton, EA McKenzie, RA Kammerer, M Lewis, ...
The American Journal of Human Genetics 86 (6), 963-969, 2010
1132010
Evaluation of the prenatal diagnosis of neural tube defects by fetal ultrasonographic examination in different centres across Europe
PA Boyd, DG Wellesley, HEK De Walle, R Tenconi, S Garcia-Minaur, ...
Journal of medical screening 7 (4), 169-174, 2000
1102000
Genetic contributors to risk of schizophrenia in the presence of a 22q11. 2 deletion
I Cleynen, W Engchuan, MS Hestand, T Heung, AM Holleman, ...
Molecular psychiatry 26 (8), 4496-4510, 2021
1072021
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis
BWM van Bon, DA Koolen, R Borgatti, A Magee, S Garcia-Minaur, ...
Journal of medical genetics 45 (6), 346-354, 2008
1022008
Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A
E Reinstein, S Frentz, T Morgan, S García-Miñaúr, RJ Leventer, ...
European Journal of Human Genetics 21 (5), 494-502, 2013
1012013
Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1, 25 (OH) 2 D serum levels are associated with PHEX …
M Morey, L Castro-Feijóo, J Barreiro, P Cabanas, M Pombo, M Gil, ...
BMC medical genetics 12, 1-11, 2011
1012011
Using common genetic variation to examine phenotypic expression and risk prediction in 22q11. 2 deletion syndrome
RW Davies, AM Fiksinski, EJ Breetvelt, NM Williams, SR Hooper, ...
Nature medicine 26 (12), 1912-1918, 2020
1002020
Spectrum of mutations and genotype–phenotype analysis in Noonan syndrome patients with RIT1 mutations
M Yaoita, T Niihori, S Mizuno, N Okamoto, S Hayashi, A Watanabe, ...
Human genetics 135, 209-222, 2016
962016
Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity
SP Robertson, ZA Jenkins, T Morgan, L Adès, S Aftimos, O Boute, ...
American journal of medical genetics Part A 140 (16), 1726-1736, 2006
952006
Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth …
RH Scott, J Douglas, L Baskcomb, AO Nygren, JM Birch, TR Cole, ...
Journal of Medical Genetics 45 (2), 106-113, 2008
922008
Simpson-Golabi-Behmel syndrome types I and II
J Tenorio, P Arias, V Martínez-Glez, F Santos, S García-Miñaur, J Nevado, ...
Orphanet Journal of Rare Diseases 9, 1-8, 2014
882014
CDKN1C (p57Kip2) analysis in Beckwith–Wiedemann syndrome (BWS) patients: Genotype–phenotype correlations, novel mutations, and polymorphisms
V Romanelli, A Belinchon, S Benito‐Sanz, V Martínez‐Glez, ...
American Journal of Medical Genetics Part A 152 (6), 1390-1397, 2010
762010
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