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Benito‐Sanz, Sara
33  results:
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1

Biochemical and Functional Characterization of a Novel Muta..:

Pandey, Amit V ; Benito‐Sanz, Sara ; Parween, Shaheena...
The FASEB Journal.  33 (2019)  S1 - p. , 2019
Link: https://doi.org/10.1096/..
 
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2

Heterozygous aggrecan variants are associated with short st..:

Sentchordi‐Montané, Lucía ; Aza‐Carmona, Miriam ; Benito‐Sanz, Sara...
Clinical Endocrinology.  88 (2018)  6 - p. 820-829 , 2018
Link: https://doi.org/10.1111/..
 
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3

Identification of the fourth duplication of upstream IHH re..:

Barroso, Eva ; Berges‐Soria, Julia ; Benito‐Sanz, Sara...
American Journal of Medical Genetics Part A.  167 (2015)  4 - p. 902-906 , 2015
Link: https://doi.org/10.1002/..
 
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4

CDKN1C (p57Kip2) analysis in Beckwith–Wiedemann syndrome (B..:

Romanelli, Valeria ; Belinchón, Alberta ; Benito‐Sanz, Sara...
American Journal of Medical Genetics Part A.  152A (2010)  6 - p. 1390-1397 , 2010
Link: https://doi.org/10.1002/..
 
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5

Compound heterozygosity of SHOX‐encompassing and downstream..:

Campos‐Barros, Ángel ; Benito‐Sanz, Sara ; Ross, Judith L...
American Journal of Medical Genetics Part A.  143A (2007)  9 - p. 933-938 , 2007
Link: https://doi.org/10.1002/..
 
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6

Heterozygous rare variants in NR2F2 cause a recognizable mu..:

Ganapathi, Mythily ; Matsuoka, Leticia S. ; March, Michael...
European Journal of Human Genetics.  31 (2023)  10 - p. 1117-1124 , 2023
Link: https://doi.org/10.1038/..
 
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7

Novel variant in HHAT as a cause of different sex developme..:

Baz-Redón, Noelia ; Soler-Colomer, Laura ; Fernández-Cancio, Mónica...
Frontiers in Endocrinology.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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8

Molecular Basis of CYP19A1 Deficiency in a 46,XX Patient Wi..:

Parween, Shaheena ; Fernández-Cancio, Mónica ; Benito-Sanz, Sara...
The Journal of Clinical Endocrinology & Metabolism.  105 (2020)  4 - p. e1272-e1290 , 2020
Link: https://doi.org/10.1210/..
 
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9

Clinical and Molecular Description of 16 Families With Hete..:

Sentchordi-Montané, Lucía ; Benito-Sanz, Sara ; Aza-Carmona, Miriam...
The Journal of Clinical Endocrinology & Metabolism.  105 (2020)  8 - p. 2654-2666 , 2020
Link: https://doi.org/10.1210/..
 
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10

Identification of a limb enhancer that is removed by pathog..:

Skuplik, Isabella ; Benito-Sanz, Sara ; Rosin, Jessica M....
Scientific Reports.  8 (2018)  1 - p. , 2018
Link: https://doi.org/10.1038/..
 
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11

Mutations in C-natriuretic peptide (NPPC): a novel cause of..:

Hisado-Oliva, Alfonso ; Ruzafa-Martin, Alba ; Sentchordi, Lucia...
Genetics in Medicine.  20 (2018)  1 - p. 91-97 , 2018
Link: https://doi.org/10.1038/..
 
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12

Identification of 15 novel partial SHOX deletions and 13 pa..:

Benito-Sanz, Sara ; Belinchon-Martínez, Alberta ; Aza-Carmona, Miriam...
Journal of Human Genetics.  62 (2016)  2 - p. 229-234 , 2016
Link: https://doi.org/10.1038/..
 
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13

Profiling of conserved non-coding elements upstream of SHOX..:

Verdin, Hannah ; Fernández-Miñán, Ana ; Benito-Sanz, Sara...
Scientific Reports.  5 (2015)  1 - p. , 2015
Link: https://doi.org/10.1038/..
 
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14

HeterozygousNPR2Mutations Cause Disproportionate Short Stat..:

Hisado-Oliva, Alfonso ; Garre-Vázquez, Ana I. ; Santaolalla-Caballero, Fabiola...
The Journal of Clinical Endocrinology & Metabolism.  100 (2015)  8 - p. E1133-E1142 , 2015
Link: https://doi.org/10.1210/..
 
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15

NPPB and ACAN, Two Novel SHOX2 Transcription Targets Implic..:

Aza-Carmona, Miriam ; Barca-Tierno, Veronica ; Hisado-Oliva, Alfonso...
PLoS ONE.  9 (2014)  1 - p. e83104 , 2014
Link: https://doi.org/10.1371/..
 
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