American Journal of Medical Genetics Part A American Journal of Medical Genetics Part A RSS feedThis 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.

Small 4p16.3 deletions: Three additional patients and review of the literature
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - September 23, 2018 Category: Genetics & Stem Cells Authors: Laura Bernardini, Francesca C. Radio, Fabio Acquaviva, Cristina Gorgone, Diana Postorivo, Barbara Torres, Viola Alesi, Monia Magliozzi, Fortunato Lonardo, Matteo Della Monica, Anna M. Nardone, Claudia Cesario, Teresa Mattina, Gioacchino Scara Source Type: research

A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - September 23, 2018 Category: Genetics & Stem Cells Authors: Anna A. Kashevarova, Lyudmila P. Nazarenko, Nikolay A. Skryabin, Tatiana V. Nikitina, Stanislav A. Vasilyev, Ekaterina N. Tolmacheva, Mariya E. Lopatkina, Olga A. Salyukova, Nataliya N. Chechetkina, Ekaterina A. Vorotelyak, Ekaterina P. Kalabush Source Type: research

22q and two: 22q11.2 deletion syndrome and coexisting conditions
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - September 23, 2018 Category: Genetics & Stem Cells Authors: Jennifer L. Cohen, Terrence B. Crowley, Daniel E. McGinn, Carey McDougall, Marta Unolt, Michele P. Lambert, Beverly S. Emanuel, Elaine H. Zackai, Donna M. McDonald ‐McGinn Source Type: research

Cover Image, Volume 176A, Number 9, September 2018
American Journal of Medical Genetics Part A,Volume 176, Issue 9, September 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - September 22, 2018 Category: Genetics & Stem Cells Authors: Christine P. Burren, Richard Caswell, Bruce Castle, C. Ross Welch, Tom N. Hilliard, Sarah F. Smithson, Sian Ellard Source Type: research

Table of Contents, Volume 176A, Number 9, September 2018
American Journal of Medical Genetics Part A,Volume 176, Issue 9, Page 1787-1791, September 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - September 22, 2018 Category: Genetics & Stem Cells Source Type: research

Publication schedule for 2018
American Journal of Medical Genetics Part A,Volume 176, Issue 9, Page 1792-1792, September 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - September 22, 2018 Category: Genetics & Stem Cells Source Type: research

USP48 May Be Potential Therapeutic Target in Fanconi Anemia: Inactivation of USP48 reduced chromosomal instability of Fanconi anemia defective cells and highlights a role for this enzyme in controlling DNA repair
American Journal of Medical Genetics Part A,Volume 176, Issue 9, Page 1794-1795, September 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - September 22, 2018 Category: Genetics & Stem Cells Source Type: research

Mendelian Disease Genes More Prone to Copy Number Changes Than Previously Thought: Clinically relevant copy number variants are distinct from those that contribute to normal variation in human disease genes
American Journal of Medical Genetics Part A,Volume 176, Issue 9, Page 1793-1794, September 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - September 22, 2018 Category: Genetics & Stem Cells Source Type: research

In This Issue
American Journal of Medical Genetics Part A,Volume 176, Issue 9, Page 1796-1796, September 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - September 22, 2018 Category: Genetics & Stem Cells Source Type: research

Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - September 21, 2018 Category: Genetics & Stem Cells Authors: Caleb P. Bupp , Chad R. Schultz , Katie L. Uhl , Surender Rajasekaran , Andr é S. Bachmann Source Type: research

Use of nutritional devices in Cornelia de Lange syndrome: Data from a large Italian cohort
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - September 21, 2018 Category: Genetics & Stem Cells Authors: Valentina Decimi , Barbara Parma , Roberto Panceri , Chiara Fossati , Milena Mariani , Silvia Russo , Cristina C. Gervasini , Maurizio Cheli , Anna Cereda , Angelo Selicorni Source Type: research

Cleft palate and hypopituitarism in a patient with Noonan ‐like syndrome with loose anagen hair‐1
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - September 21, 2018 Category: Genetics & Stem Cells Authors: Natario L. Couser , Debra Keelean ‐Fuller , Marsha L. Davenport , Eden Haverfield , Maheer M. Masood , Mark Henin , Arthur S. Aylsworth Source Type: research

Risk of Down syndrome birth: Consanguineous marriage is associated with maternal meiosis ‐II nondisjunction at younger age and without any detectable recombination error
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - September 21, 2018 Category: Genetics & Stem Cells Authors: Anirban Ray , Tiffany Rene Oliver , Pinku Halder , Upamanyu Pal , Sumantra Sarkar , Supratim Dutta , Sujay Ghosh Source Type: research

Novel CNS malformations and skeletal anomalies in a patient with Beaulieu ‐boycott‐Innes syndrome
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - September 21, 2018 Category: Genetics & Stem Cells Authors: Andrea Accogli , Marcello Scala , Annalisa Calcagno , Raffaele Castello , Annalaura Torella , Francesco Musacchia , Anna M. E. Allegri , Maria M. Mancardi , Mohamad Maghnie , Mariasavina Severino , , Vincenzo Ni Source Type: research

Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms. Am J Med Genet A. 2018 Feb;176(2):290 ‐300
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - September 20, 2018 Category: Genetics & Stem Cells Authors: CM Clarke , VT Fok , JA Gustafson , MD Smyth , AE Timms , CD Frazar , JD Smith , CB Birgfeld , A Lee , RG Ellenbogen , JS Gruss , RA Hopper , ML Cunningham Source Type: research