M
María Palomares
Researcher at Hospital Universitario La Paz
Publications - 26
Citations - 577
María Palomares is an academic researcher from Hospital Universitario La Paz. The author has contributed to research in topics: Multiplex ligation-dependent probe amplification & Gene duplication. The author has an hindex of 14, co-authored 24 publications receiving 492 citations. Previous affiliations of María Palomares include Carlos III Health Institute & Autonomous University of Madrid.
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Journal ArticleDOI
Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome
Luis Morís Fernández,Pablo Lapunzina,D Arjona,I López Pajares,Luis García-Guereta,D Elorza,Margarita Burgueros,M. L. De Torres,María Ángeles Mori,María Palomares,A. García-Alix,Alicia Delicado +11 more
TL;DR: The efficiency of MLPA as a rapid, reliable, economical, high‐throughput method for the diagnosis of 22q11.2 deletion syndrome is confirmed.
Journal ArticleDOI
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins
Przemyslaw Szafranski,Tomasz Gambin,Avinash V. Dharmadhikari,Kadir C. Akdemir,Shalini N. Jhangiani,Jennifer Schuette,Nihal Godiwala,Svetlana A. Yatsenko,Jessica Sebastian,Suneeta Madan-Khetarpal,Urvashi Surti,Rosanna G. Abellar,David A. Bateman,Ashley Wilson,Melinda H. Markham,Jill Slamon,Fernando Santos-Simarro,María Palomares,Julián Nevado,Pablo Lapunzina,Brian H.Y. Chung,Wai Lap Wong,Yoyo W. Y. Chu,Gary Tsz Kin Mok,Eitan Kerem,Joel Reiter,Namasivayam Ambalavanan,Scott A. Anderson,David R. Kelly,Joseph T. Shieh,Taryn C. Rosenthal,Kristin Scheible,Laurie A. Steiner,M. Anwar Iqbal,Margaret L. McKinnon,Sara Jane Hamilton,Kamilla Schlade-Bartusiak,Dawn English,Glenda Hendson,Elizabeth Roeder,Thomas S. DeNapoli,Rebecca O. Littlejohn,Daynna J. Wolff,Carol L. Wagner,Alison Yeung,David Francis,Elizabeth K. Fiorino,Morris Edelman,Joyce E. Fox,Denise A. Hayes,Sandra Janssens,Elfride De Baere,Björn Menten,Anne Loccufier,Lieve Vanwalleghem,Philippe Moerman,Yves Sznajer,Amy S. Lay,Jennifer Kussmann,Jasneek Chawla,Jasneek Chawla,Diane J. Payton,Gael E. Phillips,Erwin Brosens,Dick Tibboel,Annelies de Klein,Isabelle Maystadt,Richard Fisher,Neil J. Sebire,Alison Male,Maya Chopra,Jason Pinner,Girvan Malcolm,Gregory Peters,Susan Arbuckle,Melissa Lees,Zoe Mead,Oliver Quarrell,Richard Sayers,Martina Owens,Charles Shaw-Smith,Janet Lioy,Eileen McKay,Nicole de Leeuw,Ilse Feenstra,Liesbeth Spruijt,Frances Elmslie,Timothy Thiruchelvam,Carlos A. Bacino,Claire Langston,James R. Lupski,Partha Sen,Edwina J. Popek,Pawel Stankiewicz +93 more
TL;DR: It is demonstrated that genomic imprinting at 16q24.1 plays an important role in variable ACDMPV manifestation likely through long-range regulation of FOXF1 expression, and may be also responsible for key phenotypic features of maternal uniparental disomy 16.
Journal ArticleDOI
A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review.
Luis Fernández,Julián Nevado,Fernando Santos,Damià Heine-Suñer,Victor Martinez-Glez,Sixto García-Miñaur,Rebeca Palomo,Alicia Delicado,Isidora López Pajares,María Palomares,Luis García-Guereta,Eva Valverde,Federico Hawkins,Pablo Lapunzina +13 more
TL;DR: The phenotypic diversity found for deletions and duplications supports a lack of genotype-phenotype correlation in the vicinity of the LCRC-LCRD interval of the 22q11.2 chromosomal region, whereas the high presence of duplications in normal individuals supports their role as polymorphisms.
Journal ArticleDOI
Refining the phenotype associated with GNB1 mutations : Clinical data on 18 newly identified patients and review of the literature
Parisa Hemati,Anya Revah-Politi,Haim Bassan,Slavé Petrovski,Slavé Petrovski,Colleen G. Bilancia,Keri Ramsey,Nicole G. Griffin,Louise Bier,Megan T. Cho,Mónica Roselló,Sally Ann Lynch,Sophie Colombo,Astrid Weber,Marte G. Haug,Erin L. Heinzen,Tristan T. Sands,Vinodh Narayanan,Michelle Primiano,Vimla S. Aggarwal,Francisca Millan,Shannon G. Sattler-Holtrop,Shannon G. Sattler-Holtrop,Alfonso Caro-Llopis,Nir Pillar,Janice Baker,Rebecca Freedman,Rebecca Freedman,Hester Y. Kroes,Stephanie Sacharow,Nick Stong,Pablo Lapunzina,Michael C. Schneider,Nancy J. Mendelsohn,Amanda Singleton,Valerie Loik Ramey,Karen Wou,Alla Kuzminsky,Sandra Monfort,Monica Weiss,Samantha Doyle,Alejandro Iglesias,Francisco Martínez,Fiona Haslam McKenzie,Fiona Haslam McKenzie,Carmen Orellana,Koen L.I. van Gassen,María Palomares,Lily Bazak,Andy Lee,Ana Bircher,Lina Basel-Vanagaite,Maria Hafström,Gunnar Houge +53 more
TL;DR: In the new cohort of 18 patients, 50% of males had genitourinary anomalies and 61% of patients had gastrointestinal anomalies, suggesting a possible association of these findings with variants in GNB1.
Journal ArticleDOI
MLPA vs multiprobe FISH : comparison of two methods for the screening of subtelomeric rearrangements in 50 patients with idiopathic mental retardation
María Palomares,Alicia Delicado,Pablo Lapunzina,D Arjona,C. Amiñoso,J Arcas,A Martínez Bermejo,Luis Morís Fernández,I López Pajares +8 more
TL;DR: It is concluded that MLPA is a rapid, accurate, reliable, and cost‐effective alternative to FISH for the screening of subtelomeric rearrangements in patients with idiopathic MR.