检索结果 - Pineda-Alvarez, Daniel

Analysis of genitourinary anomalies in patients with VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, Limb abnormalit... 由 Solomon, Benjamin D., Raam, Manu S., Pineda-Alvarez, Daniel E.

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Consideration of VACTERL association in patients with trisomy 21 由 Solomon, Benjamin D., Bous, Sophia M., Bianconi, Simona, Pineda-Alvarez, Daniel

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Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients 由 Pineda-Alvarez, Daniel E., Dubourg, Christèle, David, Véronique, Roessler, Erich, Muenke, Maximilian

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Evidence for inheritance in patients with VACTERL association 由 Solomon, Benjamin D., Pineda-Alvarez, Daniel E., Raam, Manu S., Cummings, Derek A. T.

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Long-term outcomes of adults with features of VACTERL association 由 Raam, Manu S., Pineda-Alvarez, Daniel E., Hadley, Donald W., Solomon, Benjamin D.

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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... 由 Wu, David, Luo, Xi, Feurstein, Simone, Kesserwan, Chimene, Mohan, Shruthi, Pineda-Alvarez, Daniel E., Godley, Lucy A.

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Clinical utility gene card for: Holoprosencephaly 由 Dubourg, Christèle, David, Véronique, Gropman, Andrea, Mercier, Sandra, Muenke, Maximilian, Odent, Sylvie, Pineda-Alvarez, Daniel E, Roessler, Erich

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Evidence for SHH as a candidate gene for encephalocele 由 Bear, Kelly A., Solomon, Benjamin D., Roessler, Erich, Pineda Alvarez, Daniel E., Kubendran, Shobana, O’Hara, Margaret, Muenke, Maximilian

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Analysis of Component Findings in 79 Patients Diagnosed with VACTERL Association 由 Solomon, Benjamin D., Pineda-Alvarez, Daniel E., Raam, Manu S., Bous, Sophia M., Keaton, Amelia A., Vélez, Jorge I., Cummings, Derek A.T.

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Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH 由 Pineda-Alvarez, Daniel E., Roessler, Erich, Hu, Ping, Srivastava, Kshitij, Solomon, Benjamin D., Siple, C. Evan, Fan, Chen-Ming, Muenke, Maximilian

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Analysis of FOXF1 and the FOX gene cluster in patients with VACTERL association 由 Agochukwu, Nneamaka B., Pineda-Alvarez, Daniel E., Keaton, Amelia A., Warren-Mora, Nicole, Raam, Manu S., Kamat, Aparna, Chandrasekharappa, Settara C., Solomon, Benjamin D.

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Patients within the Broad Holoprosencephaly Spectrum have Distinct and Subtle Ophthalmologic Anomalies: Response to Khan 由 Pineda-Alvarez, Daniel E., Solomon, Benjamin D., Roessler, Erich, Balog, Joan Z., Hadley, Donald W., Zein, Wadih M., Brooks, Brian P., Muenke, Maximilian

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Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort 由 Ribeiro, Lucilene A., Roessler, Erich, Hu, Ping, Pineda-Alvarez, Daniel E., Zhou, Nan, Jones, MaryPat, Chandrasekharappa, Settara, Richieri-Costa, Antonio, Muenke, Maximilian

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Cytogenetics and Holoprosencephaly: A Chromosomal Microarray Study of 222 Individuals with Holoprosencephaly 由 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

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Analysis of Genotype-Phenotype Correlations in Human Holoprosencephaly 由 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

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A Broad Range of Ophthalmologic Anomalies is Part of the Holoprosencephaly Spectrum 由 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

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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 由 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

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Compound Heterozygosity for Mutations in PAX6 in Patient with Complex Brain Anomaly, Neonatal Diabetes Mellitus, and Microophthalmia 由 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

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Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly 由 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

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Loss-of-function variants in CTNNA1 detected on multigene panel testing in individuals with gastric or breast cancer 由 Clark, Dana Farengo, Michalski, Scott T., Tondon, Rashmi, Nehoray, Bita, Ebrahimzadeh, Jessica, Hughes, Sarah Kate, Soper, Emily R., Domchek, Susan M., Rustgi, Anil K., Pineda-Alvarez, Daniel, Anderson, Michael J., Katona, Bryson W.

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