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J Amiel Selected Research

Dysostoses

11/2015A review of craniofacial disorders caused by spliceosomal defects.
9/2014Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause.

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J Amiel Research Topics

Disease

5Hirschsprung Disease (Hirschsprung's Disease)
01/2008 - 01/2000
4Prostatic Neoplasms (Prostate Cancer)
12/2014 - 01/2004
4CHARGE Syndrome
08/2007 - 02/2002
3Urinary Bladder Neoplasms (Bladder Cancer)
06/2010 - 11/2005
3Mental Retardation (Idiocy)
08/2004 - 04/2002
2Dysostoses
11/2015 - 09/2014
2Erectile Dysfunction
12/2013 - 12/2006
2Intestinal Obstruction (Obstruction, Intestinal)
01/2008 - 11/2001
2Hypoventilation
08/2007 - 05/2006
2Cryptorchidism (Undescended Testes)
10/2005 - 08/2004
1Infection
12/2013
1Sepsis (Septicemia)
12/2013
1Adenocarcinoma
12/2009
1Neoplasms (Cancer)
07/2008
1Urinary Calculi (Urinary Calculus)
04/2008
1Cholestasis
08/2007
1Hydrocephalus (Hydrocephaly)
08/2007
1Coloboma
08/2007
1Pathologic Constriction (Stenosis)
08/2007
1Chromosome Disorders (Chromosome Disorder)
05/2007
1Imperforate Anus
05/2007
1Spinal Dysraphism (Spina Bifida)
04/2007
1Hypogonadism (Hypergonadotropic Hypogonadism)
10/2005
1Shock
12/2004
1Renal Insufficiency (Renal Failure)
12/2004
1Deafness (Deaf Mutism)
08/2004
1Microcephaly
12/2003
1Acrocallosal Syndrome
12/2003
1Sotos Syndrome
06/2003
1Cleft Lip (Harelip)
01/2001
1Hypertelorism
01/2001
1Autosomal Recessive Polycystic Kidney (Polycystic Kidney Disease, Infantile, Type I)
09/2000

Drug/Important Bio-Agent (IBA)

3Hirschsprung disease 1IBA
01/2008 - 01/2000
2Nager type Acrofacial dysostosisIBA
11/2015 - 09/2014
2Currarino triadIBA
07/2008 - 04/2007
2Kabuki syndromeIBA
08/2007 - 08/2004
2DNA (Deoxyribonucleic Acid)IBA
08/2007 - 09/2000
2Mowat-Wilson syndromeIBA
05/2006 - 12/2003
1Burn-Mckeown syndromeIBA
11/2015
1Messenger RNA (mRNA)IBA
11/2015
1Richieri Costa Pereira syndromeIBA
11/2015
1IodineIBA
12/2009
1Sacral agenesisIBA
07/2008
1Retinaldehyde (Retinal)IBA
08/2007
1Cartilage-hair hypoplasiaIBA
08/2007
1isooctyl acrylateIBA
05/2007
1VACTERL associationIBA
05/2007
1Phosphodiesterase 5 InhibitorsIBA
12/2006
1Penis agenesisIBA
10/2005
1Coloboma of optic nerveIBA
08/2004
1docetaxel (Taxotere)FDA Link
01/2004
1HormonesIBA
01/2004
1Weaver syndromeIBA
06/2003
1antineoplaston A10 (A 10)IBA
04/2002
1tebufenozide (Mimic)IBA
02/2002
1Endothelin B ReceptorIBA
02/2001
1AnotiaIBA
01/2001

Therapy/Procedure

4Radiotherapy
12/2014 - 11/2005
2Brachytherapy
12/2009 - 11/2005
2Cystectomy
02/2009 - 11/2005
1Prostheses and Implants (Prosthesis)
12/2013
1Penile Prosthesis (Penile Implants)
12/2013
1Stents
04/2008
1Injections
12/2006
1Prostatectomy (Retropubic Prostatectomy)
12/2006
1Nephrectomy
12/2004
1Lithotripsy (Extracorporeal Shockwave Lithotripsy)
12/2004