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         Alport Syndrome Genetics:     more detail
  1. Molecular Pathology and Genetics of Alport Syndrome (Contributions to Nephrology)
  2. The Molecular Genetics of X-Linked Alport Syndrome (Acta Biomedica Lovaniensia) by Caiying Guo, 1995-11
  3. Familial nephritis: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Maria, PhD Basile, 2005
  4. Hereditary nephropathy with hearing loss: "Alport's syndrome" (Acta paediatrica Scandinavica : Supplement) by Ulla Marianne Iversen, 1974

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.

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
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

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.
    Seminars related to Human Genetics in the Greater UCL week by week.
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
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
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
    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.
    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.
    Research Associate Professor
    email: Education Research Interests Publications
    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.
    (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
    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 American College of Medical Genetics:
    Alport Syndrome Home Page:
    The Arc, a National Organization on Mental Retardation:
    A parent's guide to Angelman Syndrome:
    Clinical Genetics (KUMC):
    Cornelia de Lange Syndrome Foundation, Inc.:
    Dysmorphic Syndrome List:
    Congenital Syndromes (UAB) :
    Family Resource Center (Note: lots of icons takes time to load, but worth the wait)
    Hereditary Nephritis Foundation (HNF):
    Klinefelter Syndrome and Associates

    91. Genetics
    HSci 302A Pathophysiolgy. genetics. Instructions EVERY studentmust participate in EVERY HyperNews discussion group. Be sure to
    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

    93. Disorders
    BranchioOto-Renal (BOR) syndrome Branchiootorenal Dysplasia Branchio-Oto-Renal(BOR) syndrome Branchiootorenal syndrome Deafness with Ear Pits Genomewide

    I. Originalarbeiten II. III. IV. Sonstiges
    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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