http://www.ncbi.nlm.nih.gov/genome/guide/HsChr17.shtml
Some diseases associated with chromosome 17 mutations Breast_cancer 1 Canavan_disease Miller-Dieker Lissencephaly Neurofibromatosis type 1 TP53,
http://www.ncbi.nlm.nih.gov/genome/guide/HsChrX.shtml
Adrenoleukodystrophy Duchenne Muscular_dystrophy Lowe Syndrome Norrie Disease Rett_syndrome See OMIM or Genes and Disease for additional examples
http://www.ncbi.nlm.nih.gov/genome/guide/HsChr19.shtml
2 Stanford 269 RH 3 Genethon 121 Link 4 Disease Genes Myotonic_dystrophy (DM) is the result of an expansion of a repeat sequence
and Sutherland 6 Some diseases associated with chromosome 19 mutations Acute T_cell Leukemia Diamond-Blackfan Anemia Myotonic_dystrophy See OMIM
http://www.nlm.nih.gov/databases/alerts/lung.html
. LAM is_associated with a rare genetic neurological_disorder called tuberous_sclerosis (TS.
whether patients with LAM also showed signs of tuberous_sclerosis,
LAM's connection to tuberous_sclerosis has_been_documented
including its connection to tuberous_sclerosis,
http://www.ncbi.nlm.nih.gov/genome/guide/HsChr4.shtml
5) have_cataloged recurrent chromosome aberrations associated with cancers. Chromosome 4 aberrations Disease Genes Huntington_disease is a neurodegenerative disorder affecting approximately 30,000 Americans. It was the first disorder
Some diseases associated with chromosome 4 mutations Huntington_disease Juvenile Periodontitis Wolf-Hirschhorn Syndrome Wolfram_syndrome See OMIM or Genes
http://www.ncbi.nlm.nih.gov/genome/guide/HsChr2.shtml
for Human Chr. 2 Chromosome 2 Disease Genes Some diseases associated with chromosome 2 mutations Alstrom Syndrome Holoprosencephaly 2 Tibial Muscular_dystrophy Autosomal Recessive Deafness
-9 Limb Girdle Muscular_dystrophy 2b See OMIM
http://www.ncbi.nlm.nih.gov/disease/Muscle.html
Muscle and bone Duchenne muscular_dystrophy Ellis-van_creveld_syndrome Marfan_syndrome Myotonic_dystrophy Spinal muscular_atrophy THE SKELETON provides an anchor point against
. Two diseases that originate through a defect in the muscle_cells themselves are Duchenne muscular_dystrophy (DMD) and myotonic_dystrophy (DM.
DM is another'dynamic mutation'disease, similar to Huntington_disease,
http://www.ncbi.nlm.nih.gov/disease/Signals.html
sex determination Tuberous_sclerosis Waardenburg syndrome Werner_syndrome SIGNAL TRANSDUCTION within and between cells mean that they can communicate important information
http://www.ncbi.nlm.nih.gov/genome/guide/HsChr9.shtml
9 mutations Dysautonomia Friedreich_ataxia Torsion Dystonia 1 Fanconi_anemia,
http://www.ncbi.nlm.nih.gov/genome/guide/HsChr18.shtml
Type C Tourette_syndrome See OMIM
http://www.ncbi.nlm.nih.gov/genome/guide/HsChr14.shtml
MA Some diseases associated with chromosome 14 mutations Alzheimer_disease Graves_disease Machado-joseph_disease Spastic Paraplegia 3a See OMIM for additional examples
http://www.ncbi.nlm.nih.gov/disease/Brain.html
The nervous_system Alzheimer_disease Amyotrophic_lateral_sclerosis Angelman_syndrome Charcot-marie-tooth_disease Epilepsy Essential_tremor Fragile_x_syndrome Friedreich's ataxia Huntington_disease Niemann-pick_disease
Parkinson_disease Prader-willi_syndrome Rett_syndrome Spinocerebellar atrophy Williams_syndrome THE BRAIN and nervous_system form an intricate network of electrical signals that are responsible_for coordinating muscles, the senses, speech,
while Huntington_disease, Fragile_x_syndrome and spinocerebellar atrophy are all'dynamic mutation'diseases in
http://www.ncbi.nlm.nih.gov:80/entrez/journals/active_providers.html
) Elsevier Science (ES) EMBL Reptile Database (emblrep) Emery-Dreifuss Muscular_dystrophy Mutation Database
(treeoflife) Tuberous_sclerosis Mutation Database (TSMDB) Tufts University Health Sciences Library (tuhslib) Tulane
http://www.ncbi.nlm.nih.gov/entrez/Omim/allresources.html
The BTKBASE mutation registry for X-Linked agammaglobulinemia The Cystic_fibrosis Mutation Database The Emery-Dreifuss Muscular_dystrophy Mutation
and Mutation Database The PAX6 Mutation Database The Phenylalanine_hydroxylase Locus Database The RB1 Gene_mutation Database The Tuberous_sclerosis
http://www.ncbi.nlm.nih.gov:80/entrez/journals/loprovlink.html
Taxonomy Emery-Dreifuss Muscular_dystrophy Mutation Database (EMD:
Taxonomy Tuberous_sclerosis Mutation Database (TSMDB: