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DIAGnostics
Clinical Research

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For more information on Clinical Research section please look at general page


1996


19 December 1996
  1. mucopolysaccharidosis I-S & VI
  2. DIAG/CALL:OFD1
  3. Trisomy 18, trisomy 13
  4. paroxysmal kinesogenic dystonia
  5. Pericardiac Post-surgery Syndrome

5 December 1996
  1. Gene Therapy For Myopathies
  2. DIAG: RP3 mutation studies
  3. LAD(CD18/CD11)
  4. Patient with 47,XXX,t(8;10)(q22.1;q24.1)
  5. L1CAM
  6. some knowledge of intracranial aneurysm
  7. Riedel's thyroiditis

29 November 1996
  1. Looking for patients with Senior-Loken-syndrom
  2. 13q deletions and Retinoblastoma
  3. homozygous familial hypercholesterolemia patients
  4. Associations
  5. Have patients. Need researcher.

22 November 1996
  1. Genotyping archeological remains
  2. anti-trypsin deficiency/autopsy
  3. Urbath-Wiethe (lipoidproteinosis)
  4. Byler Disease (Liver disease)/PT Req.
  5. 6p24 to 6pter deletion/PT Req.
  6. Wolfram's syndrome-DIDMOAD/PT Req.
  7. Hereditary bone dysplasia (McKusick #112250)
  8. OLIVOPONTONEOCEREBELLAR HYPOPLASIA/PT Req.
  9. ACC (aplasia cutis congenita)

4 November 1996
  1. Wolf-Hirschhorn Syndrome (WHS) and Pitt-Rogers-Danks Syndrome (PRDS)
  2. multicore myopathy/ PT Req.
  3. long QT syndrome genotyping
  4. Hunter Syndrome/ PT Req.
  5. THIS IS AN ONCOLOGIC EMERGENCY

24 October 1996
  1. otopalatodigital syndrome type 2
  2. Currarino Triad/PT Request
  3. Prenatal diagnosis for Hemophilia A in Japan
  4. mesothelioma/PT Request
  5. Kallmann's syndrome (hypogonadotropic hypogonadism and anosmia)

15 October 1996
  1. Fragile X locus (FMR1)/call for collaboration
  2. Friedreich's Ataxia/PT REQ.
  3. trisomy 21 by FISH/setting up the service in Greece
  4. DIDMOAD/Wolfram syndrome: correction of address
  5. DIAG on WWW: IMPORTANT MESSAGE FROM THE EDITOR

9 October 1996
  1. marinesco-sjogren syndrome/PT request
  2. DIDMOAD/Wolfram syndrome of diabetes and optic atrophy
  3. prenatal testing for muscular dystrophy
  4. patient with agenesis of corpus callosum
  5. Darier's disease, a dominant skin disorder

20 September 1996
  1. 18q - syndrome/PT Request
  2. Cardiac malformation (holt horam) and genetics/PT Request
  3. Leigh's Disease/PT Request
  4. Fryns syndrome/PT request
  5. 4p- syndromes (Wolf-Hirschhorn and Pitt-Rogers-Danks Syndromes)

22 August 1996
  1. sterility/ 45 XY, t(10,14)
  2. nephrotic syndrome/WT1 gene
  3. follow up on Frax Gene Therapy
  4. autosomal recessive muscular dystrophy/delta-sarcoglycan gene
  5. A-T study; req. for collaboration from Germany
  6. follicular lymphoma cell lines request
  7. congenital endothelial corneal dystrophy
  8. hereditary hemorrhagic telangiectasia
  9. carrier detection for Riley-Day Syndrome.
  10. req. For information on molecular diagnostic lab from Brazil

1 August 1996
  1. 23 mo little girl with a karyotype 46,XX,del(14)(q11.2 q13)
  2. Mandibulo-Facial Dysostosis
  3. Reply to Ricky Lewis: inv7 and OI
  4. Lipodystrophy and OI II and III
  5. familial myoclonus/ PT REQUEST
  6. Gene therapy research for Fragile X syndrome
  7. 12,4 translocation patient/reply to Eileen B
  8. A-T study; req. for collaboration from Germany

12 July 1996
  1. amnio report of 46,XY,inv(7)(q21.?2q22.?3)
  2. Muscle biopsy transportation
  3. Nail-Patella Syndrome
  4. mutations in the dystrophin gene
  5. translocation 12;4/amniocentesis/ *PT. REQ.*
  6. Hereditary angioneurotic oedema

20 June 1996
  1. del 6p24
  2. DYSOSTEOSCLEROSIS (McK#224300)

17 June 1996
  1. BATTENS DISEASE/ req. for info
  2. Fibrolamellar hepatacellular carcinoma/ PT. REQ.
  3. familial neuroblastoma study
  4. Idiopathic Haemosiderosis/ req. for info
  5. Down Syndrome Management Query

3 June 1996
  1. X-linked hypophosphataemic rickets X-linked (Xp) Spondyloepiphyseal dyspalsia tarda (SEDL)
  2. Retinoblastoma, FAP, HNPCC: molecular diagnostics

27 May 1996
  1. Familial Histiocytic Reticulosis
  2. liver cancers/microsatellite instability
  3. vascular (venous) anomalies collaboration
  4. WERDNIG HOFFMAN / PT REQ.
  5. blepharophimosis
  6. Polycythemia vera/ PT REQ.
  7. Prenatal Diagnosis of Epidermolysis Bullosa Simplex

15 March 1996
  1. Familial Neuroblastoma Linkage Project
  2. Familial papillary thyroid carcinoma
  3. Message from the Editor

3 March 1996
  1. familial papillary thyroid carcinoma
  2. Screening sperm donors for cystic fibrosis
  3. CMV strains
  4. childhood cancer/pt support
  5. omphalocele/ PT. REQ.
  6. Steinbeis-Transfer Zentrum fuer Biomolekulare Medizin at the University of Konstanz/Germany; req. for collaborations

29 February 1996
  1. FAMILIAL OMPHALOCELE
  2. Cystic Fibrosis
  3. Colon Adenomas vs. DALM (Dysplasia Associated Lesion or Mass); req. for a diagnostic test

21 February 1996
  1. Genetic approaches to pain
  2. diagnosis of Smith-Lemli-Opitz syndrome
  3. Iduronate sulphatase deficiency
  4. BOWENOID HPV/ PT. REQ.
  5. Meckel-Gruber/ PT. REQ.
  6. Ataxia and retinitis pigmentosa
  7. Klippel-Feil syndrome

15 February 1996
  1. Jeune syndrome (asphyxiating thoracic dystrophy)
  2. Canavan Disease/ PT REQ.
  3. Smith Simon Leon Liopit/ PT REQ.
  4. unstable DNAs/tumors
  5. SYNPOLYDACTYLY (Syndactyly TypeII)
  6. Hermansky-Pudlak syndrome

7 February 1996
  1. Chediak-Higashi syndrome
  2. PT REQ.: Ceroid Lipofuscinosis
  3. multicore/multiminicore myopathy
  4. PT REQ.: Genetic effects of chemotherapy in albinism

27 January 1996
  1. PT REQ.: gene therapy trials for lung adenoca
  2. multicore/multiminicore myopathy

24 January 1996
  1. Mitochondrial DNA and male infertility
  2. Collaboration req. from Pakistan
  3. Neurofibromatosis type 1
  4. HMGN POLICY ON REQUESTS FOR HUMAN SPECIMENS/ III MAILING
  5. translocation insertion (1;2)

12 January 1996
  1. Bazex-Dupre-Christol Syndrome
  2. familial hypercholesterolemia
  3. PT REQ./Werdnig-Hoffmann disease

5 January 1996
  1. Prostate cancer family/reply
  2. Chromosomal translocations/reply addendum
  3. Note to people who previously posted inside DIAG

2 January 1996
  1. prostate cancer family


15 December 1995
  1. chondrodysplasias
  2. Hallervorden-Spatz syndrome


Editor: Carlo Gambacorti, Agnes Tay, Robert Resta
WWW pages by Luciano Guglielmi for CILEA