Search Results - Pineda–Alvarez, Daniel E
- Showing 1 - 20 results of 27
- Go to Next Page
-
1
Analysis of genitourinary anomalies in patients with VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, Limb abnormalit... by Solomon, Benjamin D., Raam, Manu S., Pineda-Alvarez, Daniel E.
Published 2011Text -
2
-
3
-
4
-
5
How I curate: applying American Society of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel rules for RUNX1 variant curation for germline predis... by Wu, David, Luo, Xi, Feurstein, Simone, Kesserwan, Chimene, Mohan, Shruthi, Pineda-Alvarez, Daniel E., Godley, Lucy A.
Published 2020Text -
6
-
7
-
8
-
9
Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH by Pineda-Alvarez, Daniel E., Roessler, Erich, Hu, Ping, Srivastava, Kshitij, Solomon, Benjamin D., Siple, C. Evan, Fan, Chen-Ming, Muenke, Maximilian
Published 2011Text -
10
Analysis of FOXF1 and the FOX gene cluster in patients with VACTERL association by Agochukwu, Nneamaka B., Pineda-Alvarez, Daniel E., Keaton, Amelia A., Warren-Mora, Nicole, Raam, Manu S., Kamat, Aparna, Chandrasekharappa, Settara C., Solomon, Benjamin D.
Published 2011Text -
11
Patients within the Broad Holoprosencephaly Spectrum have Distinct and Subtle Ophthalmologic Anomalies: Response to Khan by Pineda-Alvarez, Daniel E., Solomon, Benjamin D., Roessler, Erich, Balog, Joan Z., Hadley, Donald W., Zein, Wadih M., Brooks, Brian P., Muenke, Maximilian
Published 2012Text -
12
Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort by Ribeiro, Lucilene A., Roessler, Erich, Hu, Ping, Pineda-Alvarez, Daniel E., Zhou, Nan, Jones, MaryPat, Chandrasekharappa, Settara, Richieri-Costa, Antonio, Muenke, Maximilian
Published 2012Text -
13
Cytogenetics and Holoprosencephaly: A Chromosomal Microarray Study of 222 Individuals with Holoprosencephaly by Hu, Tommy, Kruszka, Paul, Martinez, Ariel F., Ming, Jeffrey E., Shabason, Emily K., Raam, Manu S., Shaikh, Tamim H., Pineda-Alvarez, Daniel E., Muenke, Maximilian
Published 2018Text -
14
Analysis of Genotype-Phenotype Correlations in Human Holoprosencephaly by Solomon, Benjamin D., Mercier, Sandra, Vélez, Jorge I., Pineda-Alvarez, Daniel E., Wyllie, Adrian, Zhou, Nan, Dubourg, Christèle, David, Veronique, Odent, Sylvie, Roessler, Erich, Muenke, Maximilian
Published 2010Text -
15
A Broad Range of Ophthalmologic Anomalies is Part of the Holoprosencephaly Spectrum by Pineda-Alvarez, Daniel E., Solomon, Benjamin D., Roessler, Erich, Balog, Joan Z., Hadley, Donald W., Zein, Wadih M., Hadsall, Casey K., Brooks, Brian P., Muenke, Maximilian
Published 2011Text -
16
De Novo Deletion of Chromosome 20q13.33 in a Patient with Tracheo-esophageal Fistula, Cardiac Defects and Genitourinary Anomalies Implicates GTPBP5 as a Candidate Gene by Solomon, Benjamin D, Pineda–Alvarez, Daniel E, Hadley, Donald W, Keaton, Amelia A, Agochukwu, Nneamaka B, Raam, Manu S, Carlson–Donohoe, Hannah E, Kamat, Aparna, Chandrasekharappa, Settara C
Published 2011Text -
17
Compound Heterozygosity for Mutations in PAX6 in Patient with Complex Brain Anomaly, Neonatal Diabetes Mellitus, and Microophthalmia by Solomon, Benjamin D., Pineda-Alvarez, Daniel E., Balog, Joan Z., Hadley, Donald, Gropman, Andrea L., Nandagopal, Radha, Han, Joan C., Hahn, Jin S., Blain, Delphine, Brooks, Brian, Muenke, Maximilian
Published 2009Text -
18
Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly by Hehr, Ute, Pineda-Alvarez, Daniel E., Uyanik, Goekhan, Hu, Ping, Zhou, Nan, Hehr, Andreas, Schell-Apacik, Chayim, Altus, Carola, Daumer-Haas, Cornelia, Meiner, Annechristin, Steuernagel, Peter, Roessler, Erich, Winkler, Juergen, Muenke, Maximilian
Published 2010Text -
19
Incidental Medical Information in Whole-Exome Sequencing by Solomon, Benjamin D., Hadley, Donald W., Pineda-Alvarez, Daniel E., Kamat, Aparna, Teer, Jamie K., Cherukuri, Praveen F., Hansen, Nancy F., Cruz, Pedro, Young, Alice C., Berkman, Benjamin E., Chandrasekharappa, Settara C., Mullikin, James C.
Published 2012Text -
20
Minimal evidence for a direct involvement of Twisted Gastrulation Homolog 1 (TWSG1) gene in human holoprosencephaly by Kauvar, Emily F., Hu, Ping, Pineda-Alvarez, Daniel E., Solomon, Benjamin D., Dutra, Amalia, Pak, Evgenia, Blessing, Brooke, Proud, Virginia, Shanske, Alan L., Stevens, Cathy A., Rosenfeld, Jill A., Shaffer, Lisa G., Roessler, Erich, Muenke, Maximilian
Published 2010Text