DIAGnostics Clinical Research

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