检索结果 - Pineda–Alvarez, Daniel E

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.

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

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.

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

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.

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

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.

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

Incidental Medical Information in Whole-Exome Sequencing 由 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.

获取全文 获取全文 获取全文

Minimal evidence for a direct involvement of Twisted Gastrulation Homolog 1 (TWSG1) gene in human holoprosencephaly 由 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

获取全文 获取全文 获取全文