81. Gallaudet University's Genetics Program Bell Association for the Deaf and Hard of Hearing genetics and Deafness Brachiooto-renal(BOR) syndrome Boys Town National Research Hospital BOR syndrome. http://depts.gallaudet.edu/genetics/resources1.htm

Home Genetics Clinic Summer Programs in Genetics Studies in Genetic Deafness ... Contact Genetics Program Department of Biology General Genetic Deafness Resources Alexander Graham Bell Association for the Deaf and Hard of Hearing Genetics and Deafness - Ten Syndromes Most Commonly Associated with Hearing Impairment March of Dimes Birth Defects Foundation National Institute on Deafness and Other Communication Disorders (NIDCD) ... Facts on Infant Hearing Loss Blindness and Deafness Resources DB-Link (National Information Clearinghouse on Children who are Deaf-Blind) Deaf-Blind Perspectives Helen Keller National Center for Deaf-Blind Youth and Adults (HKNC) The Foundation Fighting Blindness Connexin deafness National Center for Biotechnology Information (NCBI): Connexin 26 Alport syndrome Alport syndrome Ask NOAH About: Kidney and Urologic Diseases eMedicine: Alport syndrome MEDLINEplus Medical Encyclopedia: Alport syndrome ... National Organization for Rare Disorders Brachio-oto-renal (BOR) syndrome Boys Town National Research Hospital: BOR syndrome Jervell and Lange-Nielsen syndrome (Long-QT syndrome) NCBI: Long-QT syndrome Pendred syndrome What is Pendred Syndrome?: MedicineNet

82. Program In Genetics And Development: Barbara Pober Clinical genetics; Dysmorphology; Williams syndrome. I am a Dysmorphologist Alportsyndrome, mental retardation, midface hypoplasia, and elliptocytosis a new X http://info.med.yale.edu/bbs/gendev/faculty/pober.html

Barbara Pober Associate Professor of Genetics and Pediatrics A.B. Yale College, 1973 M.D. Yale University, 1978 M.P.H. Harvard School of Public Health, 1983 Research Interests: Clinical Genetics Dysmorphology Williams Syndrome I am a Dysmorphologist/Clinical Geneticist involved in diagnosis and counselling for birth defects and inherited disorders. Current Clinical Studies My major research focuses on a rare genetic microdeletion disorder, Williams syndrome. From my involvement in the diagnosis and management of large numbers of patients with Williams syndrome, several clinical studies on the natural history of this disorder have emerged. Clinical information and patient samples are being provided in a collaborative fashion to assist in the delineation of the Williams syndrome critical region. Current information suggests that the Williams syndrome deletion is >100 kb in size, involving loss of the gene, elastin, and additional flanking genes as well. Thus, Williams syndrome is likely to be another example of a contiguous gene deletion syndrome. Representative Publications: Osborne LR, Martindale D, Scherer SW, Shi XM, Huizenga J, Heng HHQ, Costa T, Pober BR, Lew L, Brinkman J, Rommens J, Koop B, and Tsui LC.

83. Adenovirus-mediated Transfer Of Type IV Collagen 5 Chain CDNA Into Swine Kidney Gene therapy of alport syndrome (hereditary nephritis) aims at the transfer of acorrected type IV collagen chain gene into renal glomerular cells responsible http://www.nature.com/cgi-taf/DynaPage.taf?file=/gt/journal/v8/n11/abs/3301342a.

84. Centre For Human Genetics Seminars - November 1997 GOS Hospital Lecture Theatre. Tuesday 25th November 97. 12.30 Mapping Xq22 andAlport syndrome. Wayne Evans, Division of Medical and Molecular genetics, UMDS. http://www.gene.ucl.ac.uk/chg/semsnov.htm

Seminars related to Human Genetics in the Greater UCL week by week. November 1997 Week Starting Monday 3rd November 1997 Week Starting Monday 10th November 1997 Week Starting Monday 17th November 1997 Week Starting Monday 24th November 1997 Week Starting Monday 3rd November 1997 Tuesday 4th November 97 12.30 Genetics of colorectal cancer Sir Walter Bodmer, Institute for Molecular Medicine, John Radcliffe Hospital, Oxford Gowland Hopkins Lecture Theatre, Medical School Basement (Host: Ellen Soloman) 16.30 A new method to isolate novel genes for the mouse embryo Dr Dianne Gerrelli, Neural Development Unit, ICH Seminar Room, Level 7, Cardiac Wing, ICH 17.00 Craniosynostosis: Towards a Molecular pathology... Mr Jonathan Britto, Developmental Biology Unit, ICH Seminar Room, Level 7, Cardiac Wing, ICH Friday 7th November 97 13.00 What molecular evolution and genetic disease can tell us about protein targeting Dr Chris Danpure, LMCB, Dept of Biology, UCL Lankester Theatre, Medawar Building, UCL Week Starting Monday 10th November 1997 Monday 10th November 97 13.00 Rising trends in atopy: why?

85. Genes At Work - Topics In Genetics Back. The genetics Of Deafness by Beth A. Pletcher, MD, November 1999. alport syndromeis an autosomal dominant or Xlinked dominant condition associated with http://www.umdnj.edu/genesatwork/topics/pediatrics/03_pediatrics.htm

The Genetics Of Deafness by Beth A. Pletcher, MD, November 1999 It may be hard to believe, but almost 7% of the population of the United States is deaf or hearing impaired. This amounts to about 20 million people across the country. You might say that this makes sense when one considers the ever increasing population of senior citizens, but you may be surprised to learn that 50% of severe to profound hearing impairment is genetically determined. Other Mendelian disorders that have hearing loss as a frequent component include: In addition to these conditions, there are many more multiple anomaly, biochemical and cytogenetic disorders that have hearing loss as a common finding. For a child with congenital hearing loss a number of simple screening tools can be employed to rule out some of these conditions that have additional medical implications. A reasonable work-up for an infant or child with significant hearing loss without obvious cause would include: Genes at Work Home UMDNJ Home Top of page

86. Bjrm2no3 Frances A Flinter MD FRCP FRCPCH Senior Lecturer and Honorary Consultant in ClinicalGenetics, Guy's Hospital, London alport's syndrome (AS) is an inherited http://www.hayward.co.uk/hmc_index/bjr/bjrm2no3.htm

back to article index Volume 2, Number 3, Autumn 1997 Opting for pre-emptive transplantation Symbolic play in post-transplant recovery Monitoring renal patients' quality of life What I tell my patients about Alport's syndrome ... Developing a protocol for clinical practice Opting for pre-emptive transplantation Judith Argles MA CQSW Dip Soc Studies Paediatric Renal Social Worker Johanne Anderson MSc BSc DipHE RN(Child) Staff Nurse, Children and Young Person's Kidney Unit, Nottingham City Hospital NHS Trust Pre-emptive transplantation (PET) is a treatment option offered by 70% of UK renal units to children with chronic renal failure who are approaching the need for renal replacement therapy. Dialysis is avoided by planning intervention before the child develops symptoms. Key points Pre-emptive transplantation is offered by 70% of UK renal units and should be seriously considered for children approaching end-stage renal failure. PET has many social, psychological and physical benefits, including avoiding the complications of bone disease, nutritional problems and anaemia that are associated with dialysis. A team strategy is essential when preparing a family for PET - the family should ideally have regular discussions with the nephrologist, dietitian, social worker and community nurse.

87. Common Ear, Nose And Throat Problems syndrome, advancement in the fields of genetics and molecular otosclerosis; Alportsyndrome; autosomal dominant delayed (late) progressive sensorineural hearing http://www.pediatric-ent.com/learning/problems/hearing_loss.htm

Hearing Loss in Children Hearing loss in children can be frightening and confusing to parents. Children with otitis media (ear infection) or otitis media with effusion (OME) (fluid in the ear), may have temporary hearing loss due to the fluid in the middle ear. Upon removal of the fluid, hearing usually returns to normal. This is known as conductive hearing loss. This usually means that sound waves which hit the ear drum have a difficult time being transmitted from the ear drum into the inner ear (hearing nerve). Sensorineural hearing loss means the sound reaches the inner ear, but some defect in the hearing organ (cochlea), nerve, or brain is the cause of the hearing loss. A less common form of hearing loss is known as mixed hearing loss. In this form of hearing loss, there are components of both conductive hearing loss and sensorineural (nerve) hearing loss.

88. UNSW Embryology- Abnormal Development Journal Review Article. Hearing. 1. Steel, KP and Brown, SDM Trends in Genetics10 428435 (1994). Hearing. Late Onset. X-Linked alport syndrome. COL4A5. Collagen. http://anatomy.med.unsw.edu.au/cbl/embryo/Sections/Teratol.htm

UNSW Embryology Abnormal Development Embryology Home Page ANAT 3311 Developmental Anomalies Pig Homepage Human Homepage This section under construction This area of research also called Teratology . [The is a Journal of Teratology] This will be available on Version 2 or may be updated on the actual Web Page. I am very keen to have this section available, but have been unable to transfer the majority of my Lecture notes and research material in time for the deadline. In the meantime, the list below is a general guide to some relevant reviews. Note that the genetic databases [Genbank] can now be searched by KEYWORD that will allow identification of specific diseases and their loci. ANAT3311 Class Notes Developmental Anomalies Genetic Disorder Journal Review Article Hearing 1. Steel, K.P. and Brown, S.D.M. Trends in Genetics Hearing Hearing is a complex physical and neurological process. Developmental loss of hearing can result from many different causes including genetic and viral infection (rubella weeks 7-8). These generate either structural or neurological abnormalities or loss. Auricular abnormalities may also be used as an indicator of abnormal organ development, without necessarily effecting hearing.

89. Physiology Department Faculty And Their Research pathology. Tryggvason K (ed) Molecular Pathology and genetics of AlportSyndrome, Contrib Nephrol. Basel, Karger, 117128, 1996. http://medlib.med.utah.edu/physio/faculty/barker.html

DAVID F. BARKER Research Associate Professor email: david.f.barker@m.cc.utah.edu Education Research Interests Publications Education September 1971 - June 1975: Massachusetts Institute of Technology, Bachelor of Science in Life Sciences September 1975 - August 1980: Stanford University Department of Biological Sciences, Ph.D. awarded Oct. 2, 1980 September 1980 - January 1984: Howard Hughes Medical Institute, University of Utah Medical School, Post-doctoral research with Professor Raymond L. White Research Interests Dr. Barker's interests include the genetic basis of inherited susceptibility to disease in individuals and populations. One area of current research focus is on the disease genetics of type IV collagens, which are involved in susceptibility to renal failure, hearing loss and other pathological conditions caused by abnormal basement membranes. A second focus is on the contribution of specific genomic rearrangements to the etiology of sporadic breast cancer. High molecular weight DNA samples have been prepared from over 1000 sporadic breast tumors and these are being examined for rearrangements in specific genes for which changes in expression may contribute to the development of neoplasia. Publications (Go to the complete list in PDF Format.)

90. Medical Sites to call our Center for information. Department of Medical Genetics1800-624-1865 or send E-Mail to medgen@jaguar1.usouthal.edu. http://www.southalabama.edu/genetics/medsites.htm

A Few Medical Internet Sites.... We encourage health care providers, patients and concerned families to call our Center for information. Department of Medical Genetics 1-800-624-1865 or send E-Mail to medgen@jaguar1.usouthal.edu American College of Medical Genetics: http://www.faseb.org/genetics/acmg/acmgmenu.htm Alport Syndrome Home Page: http://www.cc.utah.edu/~cla6202/ASHP.htm The Arc, a National Organization on Mental Retardation: http://thearc.org/welcome.html A parent's guide to Angelman Syndrome: http://members.aol.com/miller566/as_paper.htm Clinical Genetics (KUMC): http://www.kumc.edu/instruction/medicine/genetics/prof/geneprof.html Cornelia de Lange Syndrome Foundation, Inc.: http://cdlsoutreach.org/ Dysmorphic Syndrome List: http://www.hgmp.mrc.ac.uk/DHMHD/view_human.html Congenital Syndromes (UAB) : http://www.uab.edu/pedinfo/DiseasesCongenital.html Family Resource Center (Note: lots of icons takes time to load, but worth the wait) http://www.php.com Hereditary Nephritis Foundation (HNF): http://www.cc.utah.edu/~cla6202/HNF.htm Klinefelter Syndrome and Associates http://www.genetic.org/

91. Genetics HSci 302A Pathophysiolgy. genetics. Instructions EVERY studentmust participate in EVERY HyperNews discussion group. Be sure to http://hyper.vcsun.org/HyperNews/mhighfield/get/hs302A/genes.html

HSci 302A - Pathophysiolgy GENETICS I nstructions: EVERY student must participate in EVERY HyperNews discussion group. Be sure to: 1. Include a title of your message 2. Include your email address. 3. Explain your answers from the text, notes, or other source, and CITE YOUR SOURCE. 4. Don't repeat what others have said. It makes for boring reading and suggests that you have not bothered to read others' comments. If you want to add more detail to their message, that's fine. For review on how to use HyperNews please click here.a Messages Display All Outline All , 1999, Feb 11 by Rachel Gilmer, Feb 12, 22:19 If you have trouble following this, just draw out the punnett squares and you'll see it. by mefh, Feb 14, 16:35 #2Why are X-linked inheritance patterns seen more commonly than Y-linked ones? , 1999, Feb 11 re: #2Why are X-linked inheritance patterns seen more commonly than Y-linked ones? by Rose-Lynn, Feb 07, 23:58 re: #2Why are X-linked inheritance patterns seen more commonly than Y-linked ones? by Rose-Lynn, Feb 08, 00:01 #3 What are the limitations in determining inheritance in multifactorial or polygenic disorders?

92. KT/DA Other Sites Of Interest genetics of Kidneys in Diabetics (GoKinD) Study is sponsored by the The AlportSyndrome Hereditary Nephritis Forum is for patients, family, nephrology http://users.rcn.com/ktda1/sites.shtml

93. Disorders BranchioOto-Renal (BOR) syndrome Branchiootorenal Dysplasia Branchio-Oto-Renal(BOR) syndrome Branchiootorenal syndrome Deafness with Ear Pits Genomewide http://www.listen-up.org/med/med2.htm

Disorders Acoustic Neuroma Acoustic Neuroma Association Acoustic Neuroma Patient Archive Acoustic Neuroma Seattle Acoustic Neuroma Website - From UCSF Alport Syndrome Alport Syndrome Alport SyndromeHereditary Nephritis Study Alport Syndrome Home Page Genetics and Deafness - Alport Syndrome Arnold Chiari Malformation (ACM) - See Meniere's Disease Atresia See Microtia Auditory Neuropathy Auditory Neuropathy - An abstract from Brain: A Journal of Neurology Auditory Neuropathy Listserv Auditory Neuropathy Frequently asked Question and Answer Auditory Neuropathy in Childhood ... Simulations - Acoustic simulations of auditory neuropathy. Transient Deafness Due to Temperature-Sensitive Auditory Neuropathy Autoimmune Inner Ear Disease (AIED) Autoimmune Inner Ear Disease Autoimmune Inner Ear Disease Autoimmune Inner Ear Disease Autoimmune Inner Ear Disease (AIED) ... Autoimmune Inner Ear Disease FAQ Benign Paroxysmal Positional Vertigo (BPPV) Overview of BPPV: Evaluating Treatment Outcomes with Clinimetrics Overview of BPPV: Treatment Methodologies Branchio-Oto-Renal (BOR) Syndrome Branchiootorenal Dysplasia Branchio-Oto-Renal (BOR) Syndrome Branchiootorenal Syndrome Deafness with Ear Pits ... Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: clinical and genetic implications Cardio Auditory Syndrome

94. VERZEICHNIS DER WISSENSCHAFTLICHEN ARBEITEN http://www.ukl.uni-freiburg.de/med/med4/neumann/literaturde.html

VERZEICHNIS DER WISSENSCHAFTLICHEN ARBEITEN - Eine Auswahl - I. Originalarbeiten II. III. IV. Sonstiges I. ORIGINALARBEITEN The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system The Journal of Neurology, Neurosurgery and Psychiatry 1999;67:758-762 2. L. Schmidt, K Junker, N Nakaigawa, T Kinjerski, G. Weirich, M. Miller, I. Lubensky, H.P.H. Neumann, H. Brauch, J. Decker, C. Bocke, J.A. Brown, R. Jenkins, S. Richard, U. Bergerheim, B. Gerrard, M. Dean, W.M. Linehan, B. Zbar Novel mutation of the MET protooncogene in papillary renal carcinomas Oncogene 1999;18:2343-2350 3. H.P.H. Neumann, M. Reincke, B.U. Bender, R. Elsner, G. Janetschek Preserved adrenocortical function after laparoscopic bilateral adrenal sparing surgery for hereditary pheochromocytoma 5. K.M. Kreusel, N. Bornfeld, B.U. Bender, L. Neumann, M.H. Foerster, H.P.H. Neumann Der Ophthalmologe 1999;96:71-76 6. H.P.H. Neumann, B. Krumme, V. van Velthoven, M. Orszagh, K. Zerres Multiple intracranial aneurysms in a patient with autosomal-recessive polycystic kidney disease Nephrology Dialysis Transplantation 1999;14:936-939

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