Presentation is loading. Please wait.

Presentation is loading. Please wait.

Exome Sequencing Identifies PDE4D Mutations as Another Cause of Acrodysostosis  Caroline Michot, Carine Le Goff, Alice Goldenberg, Avinash Abhyankar, Céline.

Published byあいね うなだ Modified over 5 years ago

Similar presentations

Presentation on theme: "Exome Sequencing Identifies PDE4D Mutations as Another Cause of Acrodysostosis  Caroline Michot, Carine Le Goff, Alice Goldenberg, Avinash Abhyankar, Céline."— Presentation transcript:

1 Exome Sequencing Identifies PDE4D Mutations as Another Cause of Acrodysostosis 
Caroline Michot, Carine Le Goff, Alice Goldenberg, Avinash Abhyankar, Céline Klein, Esther Kinning, Anne-Marie Guerrot, Philippe Flahaut, Alice Duncombe, Genevieve Baujat, Stanislas Lyonnet, Caroline Thalassinos, Patrick Nitschke, Jean-Laurent Casanova, Martine Le Merrer, Arnold Munnich, Valérie Cormier-Daire  The American Journal of Human Genetics  Volume 90, Issue 4, Pages (April 2012) DOI: /j.ajhg Copyright © 2012 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Pictures and X-Rays of Individuals 6 and 8 with PDE4D Mutations (A1 and B1) Full-face pictures of individuals 6 (A) and 8 (B) showing facial dysostosis with a flat nasal bridge and nasal hypoplasia. (A2 and B2) Profile pictures show malar hypoplasia. (A3) Palmar face of right hand. (A4 and B3) Dorsal face of hands, which are broad and shortened. (A5 and B4) Standard X-rays of both hands show severe brachydactyly with short, broad metacarpals and phalanges, cone-shaped epiphyses (arrows), and advanced carpal maturation. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2012 The American Society of Human Genetics Terms and Conditions

Download ppt "Exome Sequencing Identifies PDE4D Mutations as Another Cause of Acrodysostosis  Caroline Michot, Carine Le Goff, Alice Goldenberg, Avinash Abhyankar, Céline."

Similar presentations

Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor Nancy D. Merner, Simon L. Girard, Hélène Catoire, Cynthia V. Bourassa, Véronique.

Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor Nancy D. Merner, Simon L. Girard, Hélène Catoire, Cynthia V. Bourassa, Véronique.
ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia Lucas Fares-Taie, Sylvie Gerber, Nicolas Chassaing, Jill Clayton-Smith, Sylvain Hanein,

ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia Lucas Fares-Taie, Sylvie Gerber, Nicolas Chassaing, Jill Clayton-Smith, Sylvain Hanein,
Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness Isabelle Perrault, Fadi F. Hamdan, Marlène Rio, José-Mario Capo-Chichi,

Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness Isabelle Perrault, Fadi F. Hamdan, Marlène Rio, José-Mario Capo-Chichi,
Replication Stress Induces Genome-wide Copy Number Changes in Human Cells that Resemble Polymorphic and Pathogenic Variants Martin F. Arlt, Jennifer G.

Replication Stress Induces Genome-wide Copy Number Changes in Human Cells that Resemble Polymorphic and Pathogenic Variants Martin F. Arlt, Jennifer G.
Exome Sequencing and Functional Analysis Identifies BANF1 Mutation as the Cause of a Hereditary Progeroid Syndrome Xose S. Puente, Victor Quesada, Fernando.

Exome Sequencing and Functional Analysis Identifies BANF1 Mutation as the Cause of a Hereditary Progeroid Syndrome Xose S. Puente, Victor Quesada, Fernando.
Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations Isabelle Perrault, Sophie Saunier, Sylvain Hanein, Emilie Filhol, Albane A. Bizet,

Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations Isabelle Perrault, Sophie Saunier, Sylvain Hanein, Emilie Filhol, Albane A. Bizet,
Length Distributions of Identity by Descent Reveal Fine-Scale Demographic History Pier Francesco Palamara, Todd Lencz, Ariel Darvasi, Itsik Pe’er The American.

Length Distributions of Identity by Descent Reveal Fine-Scale Demographic History Pier Francesco Palamara, Todd Lencz, Ariel Darvasi, Itsik Pe’er The American.
TFIIH Subunit Alterations Causing Xeroderma Pigmentosum and Trichothiodystrophy Specifically Disturb Several Steps during Transcription Amita Singh, Emanuel.

TFIIH Subunit Alterations Causing Xeroderma Pigmentosum and Trichothiodystrophy Specifically Disturb Several Steps during Transcription Amita Singh, Emanuel.
Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and.

Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and.
Connexin Mutations in Skin Disease and Hearing Loss David P. Kelsell, Wei-Li Di, Mark J. Houseman The American Journal of Human Genetics Volume 68, Issue.

Connexin Mutations in Skin Disease and Hearing Loss David P. Kelsell, Wei-Li Di, Mark J. Houseman The American Journal of Human Genetics Volume 68, Issue.
Differential Relationship of DNA Replication Timing to Different Forms of Human Mutation and Variation Amnon Koren, Paz Polak, James Nemesh, Jacob J. Michaelson,

Differential Relationship of DNA Replication Timing to Different Forms of Human Mutation and Variation Amnon Koren, Paz Polak, James Nemesh, Jacob J. Michaelson,
Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease- Causing Point Mutations Renee P. Stokowski, David R. Cox The American.

Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease- Causing Point Mutations Renee P. Stokowski, David R. Cox The American.
Gene Preference in Maple Syrup Urine Disease Mary M. Nellis, Dean J. Danner The American Journal of Human Genetics Volume 68, Issue 1, Pages 232-237 (January.

Gene Preference in Maple Syrup Urine Disease Mary M. Nellis, Dean J. Danner The American Journal of Human Genetics Volume 68, Issue 1, Pages (January.
Alternative Splicing QTLs in European and African Populations Halit Ongen, Emmanouil T. Dermitzakis The American Journal of Human Genetics Volume 97, Issue.

Alternative Splicing QTLs in European and African Populations Halit Ongen, Emmanouil T. Dermitzakis The American Journal of Human Genetics Volume 97, Issue.
A Multilocus Model of the Genetic Architecture of Autoimmune Thyroid Disorder, with Clinical Implications Veronica J. Vieland, Yungui Huang, Christopher.

A Multilocus Model of the Genetic Architecture of Autoimmune Thyroid Disorder, with Clinical Implications Veronica J. Vieland, Yungui Huang, Christopher.
Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome Sarah B. Pierce,

Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome Sarah B. Pierce,
Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part I: Methods and Power Analysis Douglas F. Levinson, Matthew D. Levinson, Ricardo Segurado,

Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part I: Methods and Power Analysis Douglas F. Levinson, Matthew D. Levinson, Ricardo Segurado,
Genomewide Comparison of DNA Sequences between Humans and Chimpanzees Ingo Ebersberger, Dirk Metzler, Carsten Schwarz, Svante Pääbo The American Journal.

Genomewide Comparison of DNA Sequences between Humans and Chimpanzees Ingo Ebersberger, Dirk Metzler, Carsten Schwarz, Svante Pääbo The American Journal.
Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery Herbert A. Lubs, Roger E. Stevenson, Charles E. Schwartz The American Journal.

Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery Herbert A. Lubs, Roger E. Stevenson, Charles E. Schwartz The American Journal.
How surgeons can find information online? Martin Hewitt International Journal of Surgery Volume 5, Issue 6, Pages 377-380 (December 2007) DOI: 10.1016/j.ijsu.2006.11.006.

How surgeons can find information online? Martin Hewitt International Journal of Surgery Volume 5, Issue 6, Pages (December 2007) DOI: /j.ijsu

Similar presentations

Ads by Google