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.

The role of obesity in the fatal outcome of Schaaf –Yang syndrome: Early onset morbid obesity in a patient with a MAGEL2 mutation
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: Lotte Kleinendorst , Graciela Pi Cast án , Alfonso Caro‐Llopis , Elles M. J. Boon , Mieke M. van Haelst Source Type: research

Dietary intake in youth with prader ‐willi 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 14, 2018 Category: Genetics & Stem Cells Authors: Michelle L. Mackenzie , Lucila Triador , Jasmeena K. Gill , Mohammadreza Pakseresht , Diana Mager , Catherine J. Field , Andrea M. Haqq Source Type: research

Warsaw breakage syndrome: Further clinical and genetic delineation
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 14, 2018 Category: Genetics & Stem Cells Authors: Ebba Alkhunaizi , Ranad Shaheen , Sanjay Kumar Bharti , Ann M. Joseph ‐George , Karen Chong , Ghada M. H. Abdel‐Salam , Mohammed Alowain , Susan I. Blaser , Blake C. Papsin , Mohammed Butt , Mais Hashem , N Source Type: research

A previously unrecognized 22q13.2 microdeletion syndrome that encompasses TCF20 and TNFRSF13C
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 14, 2018 Category: Genetics & Stem Cells Authors: Jariya Upadia , Patrick R. Gonzales , T. Prescott Atkinson , Harry W. Schroeder , Nathaniel H. Robin , Natasha L. Rudy , Fady M. Mikhail Source Type: research

Otolaryngological features in a cohort of patients affected with 22q11.2 deletion syndrome: A monocentric survey
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 12, 2018 Category: Genetics & Stem Cells Authors: Fiorentino Grasso , Emilia Cirillo , Giuseppe Quaremba , Vincenzo Graziano , Vera Gallo , Letizia Cruoglio , Carmine Botta , Claudio Pignata , Sergio Motta Source Type: research

Understanding the pediatric psychiatric phenotype of 22q11.2 deletion 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 8, 2018 Category: Genetics & Stem Cells Authors: Ania M. Fiksinski , Maude Schneider , Clodagh M. Murphy , Marco Armando , Stefano Vicari , Jaume M. Canyelles , Doron Gothelf , Stephan Eliez , Elemi J. Breetvelt , Celso Arango , Jacob A. S. Vorstman Source Type: research

A novel mutation in CDH11, encoding cadherin ‐11, cause Branchioskeletogenital (Elsahy‐Waters) 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 8, 2018 Category: Genetics & Stem Cells Authors: Marco Castori , Claus ‐Eric Ott , Luigi Bisceglia , Maria Pia Leone , Tommaso Mazza , Stefano Castellana , Jurgen Tomassi , Silvia Lanciotti , Stefan Mundlos , Raoul C. Hennekam , Uwe Kornak , Francesco Branc Source Type: research

A novel ASPH variant extends the phenotype of Shawaf ‐Traboulsi 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 8, 2018 Category: Genetics & Stem Cells Authors: Hugo H. Abarca Barriga , Nathaly Caballero , Milana Trubnykova , Mar ía del Carmen Castro‐Mujica , Jorge E. La Serna‐Infantes , Flor Vásquez , Raoul C. Hennekam Source Type: research

Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified 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 8, 2018 Category: Genetics & Stem Cells Authors: Parisa Hemati , Anya Revah ‐Politi , Haim Bassan , Slavé Petrovski , Colleen G. Bilancia , Keri Ramsey , Nicole G. Griffin , Louise Bier , Megan T. Cho , Monica Rosello , Sally Ann Lynch , Sophie Colombo , Source Type: research

LAMP2 exon ‐copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?
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 8, 2018 Category: Genetics & Stem Cells Authors: Filip Majer , Lenka Piherova , Martin Reboun , Veronika Stara , Ondrej Pelak , Patricia Norambuena , Viktor Stranecky , Alice Krebsova , Hana Vlaskova , Lenka Dvorakova , Stanislav Kmoch , Tomas Kalina , Mil Source Type: research

Genomic detection of a familial 382 Kb 6q27 deletion in a fetus with isolated severe ventriculomegaly and her affected mother
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 8, 2018 Category: Genetics & Stem Cells Authors: Mili Thakur , Elena Bronshtein , Michael Hankerd , Henry Adekola , Karoline Puder , Bernard Gonik , Salah Ebrahim Source Type: research

Spinal manifestations in 12 patients with musculocontractural Ehlers ‐Danlos syndrome caused by CHST14/D4ST1 deficiency (mcEDS‐CHST14)
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 8, 2018 Category: Genetics & Stem Cells Authors: Masashi Uehara , Tomoki Kosho , Noriaki Yamamoto , Hideaki E. Takahashi , Taketoshi Shimakura , Jun Nakayama , Hiroyuki Kato , Jun Takahashi Source Type: research

Geleophysic dysplasia: 48 year clinical update with emphasis on cardiac care
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 8, 2018 Category: Genetics & Stem Cells Authors: Janet M. Legare , Peggy Modaff , Samuel P. Strom , Richard M. Pauli , Heather L. Bartlett Source Type: research

Distal duplication of chromosome 16q22.1q23.1 in a Vietnamese patient with midface hypoplasia 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 4, 2018 Category: Genetics & Stem Cells Authors: Huy Hoang Nguyen , Van Anh Pham , Giulia Barcia , Val érie Malan , Kiem Lien Thi Nguyen , Diem Ngoc Ngo , Thu Hien Nguyen , Pierre Landrieu , Laurence Colleaux , Van Hai Nong , Lam Son Nguyen Source Type: research

Ocular manifestations of Emanuel 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 4, 2018 Category: Genetics & Stem Cells Authors: Brooke D. Saffren , Jenina E. Capasso , Mario Zanolli , Alex V. Levin Source Type: research