PMC Links for OMIM (Select 206700) - PMC

Select item 48636631.

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

Meriel McEntagart, Kathleen A. Williamson, Jacqueline K. Rainger, Ann Wheeler, Anne Seawright, Elfride De Baere, Hannah Verdin, L. Therese Bergendahl, Alan Quigley, Joe Rainger, Abhijit Dixit, Ajoy Sarkar, Eduardo López Laso, Rocio Sanchez-Carpintero, Jesus Barrio, Pierre Bitoun, Trine Prescott, Ruth Riise, Shane McKee, Jackie Cook, Lisa McKie, Berten Ceulemans, Françoise Meire, I. Karen Temple, Fabienne Prieur, Jonathan Williams, Penny Clouston, Andrea H. Németh, Siddharth Banka, Hemant Bengani, Mark Handley, Elisabeth Freyer, Allyson Ross, DDD Study, Veronica van Heyningen, Joseph A. Marsh, Frances Elmslie, David R. FitzPatrick

Am J Hum Genet. 2016 May 5; 98(5): 981–992. Published online 2016 Apr 21. doi: 10.1016/j.ajhg.2016.03.018

PMCID:: PMC4863663

Abstract Article PDF–2.0M

Select item 48635662.

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

Sylvie Gerber, Kamil J. Alzayady, Lydie Burglen, Dominique Brémond-Gignac, Valentina Marchesin, Olivier Roche, Marlène Rio, Benoit Funalot, Raphaël Calmon, Alexandra Durr, Vera Lucia Gil-da-Silva-Lopes, Maria Fernanda Ribeiro Bittar, Christophe Orssaud, Bénédicte Héron, Edward Ayoub, Patrick Berquin, Nadia Bahi-Buisson, Christine Bole, Cécile Masson, Arnold Munnich, Matias Simons, Marion Delous, Helene Dollfus, Nathalie Boddaert, Stanislas Lyonnet, Josseline Kaplan, Patrick Calvas, David I. Yule, Jean-Michel Rozet, Lucas Fares Taie

Am J Hum Genet. 2016 May 5; 98(5): 971–980. Published online 2016 Apr 21. doi: 10.1016/j.ajhg.2016.03.004

PMCID:: PMC4863566

Abstract Article PDF–1.3M

Select item 33972763.

Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies

Hyung-Goo Kim, Hyun-Taek Kim, Natalia T. Leach, Fei Lan, Reinhard Ullmann, Asli Silahtaroglu, Ingo Kurth, Anja Nowka, Ihn Sik Seong, Yiping Shen, Michael E. Talkowski, Douglas Ruderfer, Ji-Hyun Lee, Caron Glotzbach, Kyungsoo Ha, Susanne Kjaergaard, Alex V. Levin, Bernd F. Romeike, Tjitske Kleefstra, Oliver Bartsch, Sarah H. Elsea, Ethylin Wang Jabs, Marcy E. MacDonald, David J. Harris, Bradley J. Quade, Hans-Hilger Ropers, Lisa G. Shaffer, Kerstin Kutsche, Lawrence C. Layman, Niels Tommerup, Vera M. Kalscheuer, Yang Shi, Cynthia C. Morton, Cheol-Hee Kim, James F. Gusella

Am J Hum Genet. 2012 Jul 13; 91(1): 56–72. doi: 10.1016/j.ajhg.2012.05.005

PMCID:: PMC3397276

Abstract Article PDF–1.5M

Select item 10126134.

Non-progressive cerebellar ataxia, aplasia of pupillary zone of iris, and mental subnormality (Gillespie's syndrome) affecting 3 members of a non-consanguineous family in 2 generations.

M D Crawfurd, R B Harcourt, P A Shaw

J Med Genet. 1979 Oct; 16(5): 373–378. doi: 10.1136/jmg.16.5.373

PMCID:: PMC1012613

Summary Page Browse PDF–1.3M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from OMIM

Items: 4

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity