American Journal of Medical Genetics Part A 
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This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.Gene ‐targeted deletion in mice of the Ets−1 transcription factor, a candidate gene in the Jacobsen syndrome kidney “critical region,” causes abnormal kidney development
In this study, we define an 8.1 Mb “critical region” for kidney defects in Jacobsen syndrome, which spans ~50 genes. We demonstrate that gene‐targeted deletion ofEts ‐1 in mice results in some of the most common congenital kidney defects occurring in Jacobsen syndrome, including: duplicated kidney, hypoplastic kidney, and dilated renal pelvis and calyces. Taken together, our results implicate Ets ‐1 in normal mammalian kidney development and, potentially, in the pathogenesis of some of the most common types of human structural kidney defects. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - November 13, 2018 Category: Genetics & Stem Cells Authors: Maoqing Ye,
Lian Xu,
Mengxia Fu,
Dongrui Chen,
Teresa Mattina,
Orsetta Zufardi,
Elena Rossi,
Kevin T. Bush,
Sanjay K. Nigam,
Paul Grossfeld Tags: RESEARCH ARTICLE Source Type: research
Molecular genetics of 22q11.2 deletion syndrome
American Journal of Medical Genetics Part A,Volume 176, Issue 10, Page 2070-2081, October 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 31, 2018 Category: Genetics & Stem Cells Authors: Bernice E. Morrow,
Donna M. McDonald ‐McGinn,
Beverly S. Emanuel,
Joris R. Vermeesch,
Peter J. Scambler Source Type: research
Cover Image, Volume 176A, Number 10, October 2018
American Journal of Medical Genetics Part A,Volume 176, Issue 10, Page i-i, October 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 31, 2018 Category: Genetics & Stem Cells Authors: Ian M. Campbell,
Sarah E. Sheppard,
T. Blaine Crowley,
Daniel E. McGinn,
Alice Bailey,
Michael J. McGinn,
Marta Unolt,
Jelle F. Homans,
Erin Y. Chen,
Harold I. Salmons,
J. William Gaynor,
Elizabeth Goldmuntz,
Oksana A. Jackson,
Lorraine E. Ka Source Type: research
Table of Contents, Volume 176A, Number 10, October 2018
American Journal of Medical Genetics Part A,Volume 176, Issue 10, Page 2045-2048, October 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 31, 2018 Category: Genetics & Stem Cells Source Type: research
Publication schedule for 2018
American Journal of Medical Genetics Part A,Volume 176, Issue 10, Page 2049-2049, October 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 31, 2018 Category: Genetics & Stem Cells Source Type: research
Novel Gene ‐Editing Technique Cures β‐Thalassemia in Utero: A novel peptide nucleic acid‐based gene–editing technique using a nanoparticle delivery system seemingly cured beta thalassemia in fetal mice
American Journal of Medical Genetics Part A,Volume 176, Issue 10, Page 2052-2053, October 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 31, 2018 Category: Genetics & Stem Cells Source Type: research
Providers Unprepared for Interpreting Unsolicited Genomic Results: Direct ‐to‐consumer testing has increased the number of individuals getting genetic testing in the absence of medical concerns yet turning to their providers for interpretation of results
American Journal of Medical Genetics Part A,Volume 176, Issue 10, Page 2051-2052, October 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 31, 2018 Category: Genetics & Stem Cells Source Type: research
In This Issue
American Journal of Medical Genetics Part A,Volume 176, Issue 10, Page 2054-2054, October 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 31, 2018 Category: Genetics & Stem Cells Source Type: research
22q11.2 deletion syndrome: A tiny piece leading to a big picture
American Journal of Medical Genetics Part A,Volume 176, Issue 10, Page 2055-2057, October 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 31, 2018 Category: Genetics & Stem Cells Authors: Donna M. McDonald ‐McGinn Source Type: research
What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia
American Journal of Medical Genetics Part A,Volume 176, Issue 10, Page 2058-2069, October 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 31, 2018 Category: Genetics & Stem Cells Authors: Ian M. Campbell,
Sarah E. Sheppard,
T. Blaine Crowley,
Daniel E. McGinn,
Alice Bailey,
Michael J. McGinn,
Marta Unolt,
Jelle F. Homans,
Erin Y. Chen,
Harold I. Salmons,
J. William Gaynor,
Elizabeth Goldmuntz,
Oksana A. Jackson,
Lorraine E. Ka Source Type: research
Club foot in association with the 22q11.2 deletion syndrome: An observational study
American Journal of Medical Genetics Part A,Volume 176, Issue 10, Page 2135-2139, October 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 31, 2018 Category: Genetics & Stem Cells Authors: Jelle F. Homans,
Terrence B. Crowley,
Erin Chen,
Daniel E. McGinn,
Vincent F. X. Deeney,
Ralph J. B. Sakkers,
Richard S. Davidson,
Ren é M. Castelein,
Donna M. McDonald‐McGinn Source Type: research
The impact of hypocalcemia on full scale IQ in patients with 22q11.2 deletion syndrome
American Journal of Medical Genetics Part A,Volume 176, Issue 10, Page 2167-2171, October 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 31, 2018 Category: Genetics & Stem Cells Authors: Katheryn Grand,
Lorraine E. Levitt Katz,
T. Blaine Crowley,
Edward Moss,
Megan Lessig,
Vaneeta Bamba,
Katherine Lord,
Elaine H. Zackai,
Beverly S. Emanuel,
Kathleen Valverde,
Donna M. McDonald ‐McGinn Source Type: research
Two patients with FOXF1 mutations with alveolar capillary dysplasia with misalignment of pulmonary veins and other malformations: Two different presentations and outcomes
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 31, 2018 Category: Genetics & Stem Cells Authors: Aya Abu ‐El‐Haija,
Jeff Fineman,
Andrew J. Connolly,
Priyanka Murali,
Luke M. Judge,
Anne M. Slavotinek Source Type: research
Acanthosis nigricans in achondroplasia
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 31, 2018 Category: Genetics & Stem Cells Authors: Cory J. Smid,
Peggy Modaff,
Adekemi Alade,
Janet M. Legare,
Richard M. Pauli Source Type: research
Modeling age ‐specific facial development in Williams–Beuren‐, Noonan‐, and 22q11.2 deletion syndromes in cohorts of Czech patients aged 3–18 years: A cross‐sectional three‐dimensional geometric morphometry analysis of their facial gestalt
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 31, 2018 Category: Genetics & Stem Cells Authors: Martina Čaplovičová,
Veronika Moslerová,
Ján Dupej,
Milan Macek,
Dana Zemková,
Eva Hoffmannová,
Markéta Havlovicová,
Jana Velemínská Source Type: research
