Presentation is loading. Please wait.

Presentation is loading. Please wait.

Description, Nomenclature, and Mapping of a Novel Cerebello-Renal Syndrome with the Molar Tooth Malformation Enza Maria Valente, Damiano Carmelo Salpietro,

Published byEva Ganter Modified over 9 years ago

Similar presentations

Presentation on theme: "Description, Nomenclature, and Mapping of a Novel Cerebello-Renal Syndrome with the Molar Tooth Malformation Enza Maria Valente, Damiano Carmelo Salpietro,"— Presentation transcript:

1 Description, Nomenclature, and Mapping of a Novel Cerebello-Renal Syndrome with the Molar Tooth Malformation Enza Maria Valente, Damiano Carmelo Salpietro, Francesco Brancati, Enrico Bertini, Tiziana Galluccio, Gaetano Tortorella, Silvana Briuglia, Bruno Dallapiccola The American Journal of Human Genetics Volume 73, Issue 3, Pages 663-670 (September 2003) DOI: 10.1086/378241 Copyright © 2003 The American Society of Human Genetics Terms and Conditions Terms and Conditions

2 Figure 1 The American Journal of Human Genetics 2003 73, 663-670DOI: (10.1086/378241) Copyright © 2003 The American Society of Human Genetics Terms and Conditions Terms and Conditions

3 Figure 2 The American Journal of Human Genetics 2003 73, 663-670DOI: (10.1086/378241) Copyright © 2003 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Download ppt "Description, Nomenclature, and Mapping of a Novel Cerebello-Renal Syndrome with the Molar Tooth Malformation Enza Maria Valente, Damiano Carmelo Salpietro,"

Similar presentations

A New Neurological Syndrome with Mental Retardation, Choreoathetosis, and Abnormal Behavior Maps to Chromosome Xp11 Edwin Reyniers, Patrick Van Bogaert,

A New Neurological Syndrome with Mental Retardation, Choreoathetosis, and Abnormal Behavior Maps to Chromosome Xp11 Edwin Reyniers, Patrick Van Bogaert,
Mandibuloacral Dysplasia Is Caused by a Mutation in LMNA-Encoding Lamin A/C  Giuseppe Novelli, Antoine Muchir, Federica Sangiuolo, Anne Helbling-Leclerc,

Mandibuloacral Dysplasia Is Caused by a Mutation in LMNA-Encoding Lamin A/C  Giuseppe Novelli, Antoine Muchir, Federica Sangiuolo, Anne Helbling-Leclerc,
Homozygosity Mapping of Portuguese and Japanese Forms of Ataxia-Oculomotor Apraxia to 9p13, and Evidence for Genetic Heterogeneity Maria do Céu Moreira,

Homozygosity Mapping of Portuguese and Japanese Forms of Ataxia-Oculomotor Apraxia to 9p13, and Evidence for Genetic Heterogeneity Maria do Céu Moreira,
A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome  Viviana Caputo, Luciano Cianetti, Marcello Niceta, Claudio.

A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome  Viviana Caputo, Luciano Cianetti, Marcello Niceta, Claudio.
Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome Michel De Vos, Bruce E. Hayward, Susan Picton, Eamonn.

Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome Michel De Vos, Bruce E. Hayward, Susan Picton, Eamonn.
Nuclear and Mitochondrial DNA Analysis of a 2,000-Year-Old Necropolis in the Egyin Gol Valley of Mongolia Christine Keyser-Tracqui, Eric Crubézy, Bertrand.

Nuclear and Mitochondrial DNA Analysis of a 2,000-Year-Old Necropolis in the Egyin Gol Valley of Mongolia Christine Keyser-Tracqui, Eric Crubézy, Bertrand.
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.
Elevated Frequency and Allelic Heterogeneity of Congenital Nephrotic Syndrome, Finnish Type, in the Old Order Mennonites Stacey Bolk, Erik G. Puffenberger,

Elevated Frequency and Allelic Heterogeneity of Congenital Nephrotic Syndrome, Finnish Type, in the Old Order Mennonites Stacey Bolk, Erik G. Puffenberger,
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.
The Novel Genetic Disorder Microhydranencephaly Maps to Chromosome 16p  

The Novel Genetic Disorder Microhydranencephaly Maps to Chromosome 16p  
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.
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.
X-Ray Absorption Spectroscopy of Dinuclear Metallohydrolases David L. Tierney, Gerhard Schenk Biophysical Journal Volume 107, Issue 6, Pages 1263-1272.

X-Ray Absorption Spectroscopy of Dinuclear Metallohydrolases David L. Tierney, Gerhard Schenk Biophysical Journal Volume 107, Issue 6, Pages
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 Hydrodynamic Model for Hindered Diffusion of Proteins and Micelles in Hydrogels Ronald J. Phillips Biophysical Journal Volume 79, Issue 6, Pages 3350-3353.

A Hydrodynamic Model for Hindered Diffusion of Proteins and Micelles in Hydrogels Ronald J. Phillips Biophysical Journal Volume 79, Issue 6, Pages
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,
Mesoscale Simulation of Blood Flow in Small Vessels Prosenjit Bagchi Biophysical Journal Volume 92, Issue 6, Pages 1858-1877 (March 2007) DOI: 10.1529/biophysj.106.095042.

Mesoscale Simulation of Blood Flow in Small Vessels Prosenjit Bagchi Biophysical Journal Volume 92, Issue 6, Pages (March 2007) DOI: /biophysj
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.

Similar presentations

Ads by Google