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DIAGnosticsClinical Research
Non Cancer-related

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For more information on Clinical Research section please look at general page
September, 1 1999
  1. Osteodysplastic primordial dwarfism
  2. Spondyloepiphyseal dysplasia tarda
  3. Fraser and Jeune syndromes
  4. Rothmund-Thomson Syndrome
  5. Elejalde syndrome
July, 12 1999
  1. Familial diabetes insipidus
  2. Family with porphyria
  3. 46,XX,del(7)(pter->q22.3::q31.1->qter)
  4. Bartter syndrome
  5. Allgrove Syndrome
  6. Marfan syndrome
  7. CADASIL
  8. Familial psoriasis
June, 10 1999
  1. Cystic Fibrosis  mutation, D1152H
  2. Setleis Syndrome
  3. Geleophysic Dysplasia
  4. Marfan syndrome - growth charts
  5. Rothmund-Thomson Syndrome
  6. Black tailed prairie dog, Cynomys ludovicianus, karyotype
  7. Protein C deficiency
  8. Dysplasia spondylo-epiphysaria congenita
  9. Availability of DNA samples for anonymized research
April, 9 1999
  1. Request for tissue from Fragile X patients
  2. 6p- and Dandy Walker Syndrome
  3. Protein C deficiency
  4. Sertoli-cell-only syndrome
  5. 14q12 to 14q21
  6. Klippel-Feil Syndrome
  7. Unidentified syndrome
  8. Retinitis pigmentosa with juvenile Parkinsonism
  9. CADASIL
  10. Jarcho-Levin syndrome
February, 17 1999
  1. Allgrove syndrome
  2. Oral-facial-digital type I syndrome (OFDI)
  3. Marfan Syndrome
  4. Situs Inversus
  5. C-reactive Protein
  6. Parry-Romberg Syndrome
December, 21 1998
  1. Moderate mental delay, deafness and branchial clefts
  2. 3C syndrome
  3. LVOTO Defect
  4. Infantile Convulsions
November, 15 1998
  1. Ataxia Telangiectasia and Lowe Oculocerebrorenal Syndrome
  2. Bannayan-Zonana syndrome/ Cowden's disease
  3. Skeletal dysplasia
  4. Infantile convulsions
23 October 1998
  1. Connective tissue disorder
  2. Panniculitis in cystic fibrosis patient
  3. Rubinstein-Taybi syndrome
  4. Retinitis pigmentosa/diabetic retinopathy
  5. Trisomy 18 mosaic
  6. Anterior horn cell degeneration
16 September 1998
  1. Stickler Syndrome
  2. Familial deafness
  3. Arginase deficiency
  4. 46XY der(2) Add(2)(p21)
  5. Miyshi-type muscular dystrophy
29 August 1998
  1. Partial transcobalmin I deficiency
  2. Duplication of Xq23-26
6 August 1998
  1. McCune-Albright syndrome
  2. CFTR testing
  3. Campomelic dysplasia
  4. Late onset cerebellar ataxia
  5. Coarctation in a 47XXY
1 July 1998
  1. Kartagener Syndrome
  2. Rogers Syndrome
  3. Molybdenum Cofactor Deficiency
  4. Renal-hepatic-pancreatic dysplasia and laterality defects
15 June 1998
  1. Bardet-Biedl syndrome 4
  2. Helix directory
  3. Marfan Syndrome
  4. Hajdu-Cheney syndrome
  5. Micropenis
  6. Ehlers-Danlos syndrome
23 May 1998
  1. Klippel-Feil Syndrome
  2. FISH probes for 2q14.2-q2.1
  3. Cornelia de Lange Syndrome
  4. Request for mitochondrial DNA
7 May 1998
  1. del(3)(p23)
  2. Geroderma osteodyplastica and agenesis of the corpus callosum
  3. Marfan Syndrome
  4. New publication in pharmaceutical technology transfer
27 April 1998
  1. Lebers Congenital Amaurosis
30 March 1998
  1. Unusual twins
  2. FG syndrome resources
  3. Diagnostic tests for malignant hyperthermia
  4. Isolated anophthalmia
12 March 1998
  1. Human cell line and DNA repository
  2. Leukocyte Adhesion Deficiency trial
  3. Urbach-Wiethe syndrome OMIM 247100
2 March 1998
  1. TUBEROUS SCLEROSIS COLLABORATION
  2. HEPATIC DISEASE, OSTEOPOROSIS, MULTIPLE FRACTURES
  3. SPASTIC PARAPARESIS/?ADRENOMYELONEURPATHY
  4. SPONDILOTHORACIC DYSOSTOSIS/JARCHO-LEVIN
  5. NEED ADVICE REGARDING BETAINE THERAPY
  6. DIAGNOSIS OF FAMILIAL RECTAL PAIN
  7. SEEKING FAMILIES WITH NEUROLOGICAL DISEASE
  8. FGFR2 SYNDROME?
  9. CHERUBISM
  10. CLINICAL STUDY: ATAXIA-TELANGIECTASIA
25 January 1998
  1. Glycogen storage disease type 1b
  2. Noonan syndrome
  3. Perinatal hemochromatosis
  4. Acromesomelic dysplasia
  5. Marfan syndrome
  6. Familial dissecting aneurysm
  7. Mitochondrial disorder
5 December 1997
  1. Call for Collaboration - Type II Diabetes
  2. Congenital Alopecia
7 Novembre 1997
  1. Genetic susceptibility to infectious diseases
  2. How to name this mutation ?
  3. Juvenile onset leg pain
  4. Patient with 46, XY, t(11,19) (p11.2;p13.3) translocation
  5. Protein C deficiency
  6. Difficult prenatal US
  7. Geleophysic dysplasia, Acromicric dysplasia, Call for patients
30 September 1997
  1. Fructose-1,6-bisphosphatase deficiency
3 September 1997
  1. MELAS primer
24 August 1997
  1. Noonan syndrome
  2. Polymorphisms of olfactory receptors
  3. Schimke immunoosseous dysplasia
  4. Dust-related mucormycosis
  5. Alstrvm disease
28 July 1997
  1. Canavan disease
  2. In utero bone marrow transplantation
30 June 1997
  1. Wolman Disease
  2. AR Hydrocephalus
  3. LDL Binding Assays?
25 June 1997
  1. Familial Histiocytic Reticulosis (Omenn syndrome)
  2. Hypochondroplasia/Spinal patterning
  3. Ehlers-danlos Syndrome
17 June 1997
  1. Hereditary neuralgic amyotrophy (HNA)
  2. SPECTRAL KARYOTYPING OF SMALL CHROMOSOMAL REARRANGEMENTS
  3. GREIG CEPHALOPOLYSYNDACTYLY SYNDROME
4 June 1997
  1. Parkinson's Cluster
  2. Microtia
24 May 1997
  1. Wilson's Disease
  2. Hypercoagulability?---Urgent
20 May 1997
  1. Abetalipoproteinemia
  2. Post operative therapy for Progeria patient--Urgent
16 May 1997
  1. Osteopetrosis and Paget's disease of bone
  2. Beals Syndrome
  3. Ocular Complications in Marfan
7 May 1997
  1. Chromosome 4q21 Structural Re-Arrangements
  2. Ring Chromosome 11
  3. Achondroplasia/Hypochondroplasia
21 April 1997
  1. Leber Hereditary Optic Neuropathy
  2. Camurati-Engelmann disease
  3. Pedidial oedema in a 28 wk old fetus
10 April 1997
  1. Pseudoxanthoma Elasticum
  2. Hemoglobin structure
28 March 1997
  1. Huntington's Disease--Reply
  2. Molecular Analysis in Menkes Disease
  3. Monostotic fibrous dysplasia
  4. 46XYY
  5. Leber's Hereditary Optic Neuropathy
18 March 1997
  1. Genetic Pituitary Cell Transplantation
3 March 1997
  1. Factor V Leiden mutations
  2. Peutz-Jeghers Syndrome Research
19 February 1997
  1. Antithrombin-III deficiency
  2. Jacobsen Syndrome
  3. Syndromic association with Crohn's disease
Editor: Carlo Gambacorti, Agnes Tay, Robert Resta
WWW pages by Luciano Guglielmi for CILEA