http://www.ncbi.nlm.nih.gov/genome/guide/HsChr7.shtml
. Note the eleven putative transmembrane segments. The approximate positions of alterations caused by known Pendred-syndrome mutations are_indicated. Some diseases associated with chromosome 7 mutations Cystic_fibrosis Pallister
http://www.ncbi.nlm.nih.gov/About/Doc/hs_genomeintro.html
especially as they have a significant influence on disease processes. Analysis of the draft human genomic sequence has_led already to the identification of genes for cystic_fibrosis, breast_cancer, hereditary deafness, hereditary skeletal disorders,
http://www.ncbi.nlm.nih.gov/htbin-post/Omim/getmorbid
AAS 305400 Xp11. 21 Abdominal obesity-metabolic syndrome (2) AOMS1, SYNX 605552 3q27 Abdominal obesity-metabolic syndrome, 605552 (2) AOMS2 605572 17p12 Abetalipoproteinemia (3) APOB
, FLDB 107730 2p24 Abetalipoproteinemia, 200100 (3) MTP 157147 4q22-q24 Acampomelic campolelic dysplasia (3) SOX9, CMD1, SRA1
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/HsChr10.shtml
Hermansky-Pudlak Syndrome Wolman_disease See OMIM
http://www.ncbi.nlm.nih.gov/genome/guide/HsChrX.shtml
Clusters Mouse Homologies for Human Chr. X_chromosome X Disease Genes Myelin stained section of brain in adrenoleukodystrophy
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/HsChr8.shtml
Werner_syndrome See OMIM or Genes and Disease for additional examples and detailed information.
http://www.ncbi.nlm.nih.gov/genome/guide/HsChr1.shtml
for Human Chr. 1 Chromosome 1 Disease Genes Gaucher_disease:
Some diseases associated with chromosome 1 mutations Chediak-higashi_syndrome Charcot-Marie-Tooth Neuropathy-2a Ductal Breast_cancer Gaucher_disease Usher Syndrome,
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.ncbi.nlm.nih.gov/genome/guide/HsChr12.shtml
of symptoms. Some diseases associated with chromosome 12 mutations Darier Disease Dentatorubro-pallidoluysian Atrophy Noonan_syndrome Familial Periodic Fever Phenylketonuria 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.nlm.nih.gov/medlineplus/newsbydate.html
of Alcohol (Reuters Health) Gout Drug May Help Heart_failure Patients (Reuters Health)
in Cystic_fibrosis (Reuters Health) Experts Issue Carpal Tunnel Diagnosis Plan (United_press_international) Beta_blockers Protect Brain
http://www.ncbi.nlm.nih.gov/disease/Metabolism.html
Metabolism Adrenoleukodystrophy Atherosclerosis Best disease Gaucher_disease Glucose galactose malabsorption Gyrate_atrophy Juvenile onset diabetes
Obesity Paroxysmal nocturnal hemoglobinuria Phenylketonuria Refsum_disease Tangier_disease Tay-sachs_disease METABOLISM is the means by
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/disease/Transporters.html
Transporters, pumps and channels Cystic_fibrosis Deafness Diastrophic dysplasia Hemophilia_a Long-QT syndrome Menkes syndrome Pendred
failure of a sodium and chloride transporter found in epithelial_cells leads to the congestion of cystic_fibrosis,
http://www.ncbi.nlm.nih.gov/genome/guide/HsChr3.shtml
Kevin Roth and Robert Schmidt, Washington University, St_louis, MO Some diseases associated with chromosome 3 mutations Alkaptonuria
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/HsChr15.shtml
Amytrophic Lateral Sclerosis 5 Bloom_syndrome Prader-willi_syndrome Tay-sachs_disease See OMIM or Genes and Disease for additional examples and detailed information. OMIM
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/HsChr6.shtml
Some diseases associated with chromosome 6 mutations Celiac_disease Hemochromatosis Lafora Myoclonus_epilepsy Spinocerebellar atrophy 1 See OMIM or Genes and Disease
http://www.ncbi.nlm.nih.gov/genome/guide/HsChr18.shtml
2 Stanford 279 RH 3 Genethon 136 Link 4 Disease Genes Some diseases associated with chromosome 18 mutations Colorectal Cancer Holoprosencephaly 4 Niemann-pick_disease,
Type C Tourette_syndrome See OMIM
http://www.ncbi.nlm.nih.gov/genome/guide/HsChr16.shtml
for Human Chr. 16 Chromosome 16 Disease Genes Polycystic_kidney_disease produces many cystic masses within the kidney. Some diseases associated with chromosome 16 mutations Familial_mediterranean_fever Fanconi_anemia
http://www.nlm.nih.gov/pubs/resources.html
pdf Phenylketonuria (PKU:
, January 1990-February 1997 (CBM 97-3) Genetic Testing for Cystic_fibrosis, 1224 citations, January 1989-February 1997 (CBM 97-2) Management of Hepatitis_c, 2200 citations
1990-March 1995 (CBM 95-3) Cochlear Implants, 881 citations, April 1988-March 1995 (CBM 95-2) Gaucher_disease, 594 citations, January 1984-January 1995 plus selected earlier citations
GPO Stock Number GPO Price 97-1 Management of Hepatitis_c S_n 017-052-00321-6 $13. 00 97-2 Genetic Testing for Cystic_fibrosis S_n
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/Literature/index.html
Scientists have_discovered recently a gene that may_be responsible_for renal Fanconi_syndrome.
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.pubmedcentral.nih.gov/tocrender.fcgi?journal=81
39 (12): 4227 4232 Publink PCR-Based Detection and Identification of Burkholderia_cepacia Complex Pathogens in Sputum from Cystic_fibrosis Patients Andrew Mcdowell
http://www.ncbi.nlm.nih.gov:80/entrez/journals/active_providers.html
(iaucslib) Current Science, Inc. Currsci) Cystic_fibrosis Mutation Database (CFMDB) Danish Cancer Society Library
) Elsevier Science (ES) EMBL Reptile Database (emblrep) Emery-Dreifuss Muscular_dystrophy Mutation Database
(erlangerlib) Exelixis, Inc. Library (exelib) Faculty of 1000 (F1000) Families of Flowering_plants (fpfam) Fanconi_anemia Mutation
Database (Fanconi) Fauna Iberica (Faunaiberica) Favism Database of Glucose-6-Phosphate Mutations (Favism) FDA
, Dahlgren Memorial Library (gulib) Glycogen_storage_disease_type_ii (Pompe Disease) Mutation Database (Pompe) Governors State_university
. Research Libray (esteelib) The Factor VII Mutation Database (Factor7) The Gymnosperm Database (Gymnos) The Hemophilia_a Mutation
(treeoflife) Tuberous_sclerosis Mutation Database (TSMDB) Tufts University Health Sciences Library (tuhslib) Tulane
) Webb Memorial Library (psfhslib) Wellcome Library-UK (igbwellib) Werner_syndrome Mutation Database (WRN
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
Database The Emory University Mitomap mitochondrion genome database The Factor VII Mutation Database The Fanconi_anemia Mutation
Database The Favism Database of Glucose-6-Phosphate Mutations The Glycogen_storage_disease_type_ii (Pompe Disease) Mutation Database The Hemophilia_a
and Mutation Database The PAX6 Mutation Database The Phenylalanine_hydroxylase Locus Database The RB1 Gene_mutation Database The Tuberous_sclerosis
Mutation Database The von Willebrand Factor Database The Werner_syndrome Mutation Database Model Organisms Flybase-Drosophila_melanogaster;
http://www.ncbi.nlm.nih.gov:80/entrez/journals/loprovlink.html
OMIM Pubmed Cystic_fibrosis Mutation Database (CFMDB:
Taxonomy Emery-Dreifuss Muscular_dystrophy Mutation Database (EMD:
Taxonomy Fanconi_anemia Mutation Database (Fanconi:
Taxonomy Favism Database of Glucose-6-Phosphate Mutations (Favism:
OMIM Glycogen_storage_disease_type_ii (Pompe Disease) Mutation Database (Pompe:
Taxonomy The Hemophilia_a Mutation Database (HEMOA:
Taxonomy Tuberous_sclerosis Mutation Database (TSMDB:
OMIM Werner_syndrome Mutation Database (WRN: