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Sophie Brisset Selected Research

SCO-spondin

11/2021Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C.

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Sophie Brisset Research Topics

Disease

1Isolated Microphthalmia with Coloboma 5
11/2021
1Exostoses
11/2021
1Muscle Hypotonia (Hypotonia)
11/2021
1Holoprosencephaly (Arhinencephaly)
11/2021
1Pulmonary Arterial Hypertension
01/2021
1Epilepsy (Aura)
08/2018
1Precocious Puberty
08/2018
1Overweight
08/2018
1Cardiac Arrhythmias (Arrythmia)
08/2018
1Anophthalmos (Anophthalmia)
02/2014
1Hearing Loss (Hearing Impairment)
02/2014
1Kallmann Syndrome (Kallmann's Syndrome)
05/2012
1Tetrasomy
04/2012
1Down Syndrome (Down's Syndrome)
03/2009

Drug/Important Bio-Agent (IBA)

19 alpha,11 alpha,15 alpha- trihydroxy- 16- phenoxy- 17,18,19,20- tetranorprosta- 4,5,13- trienoic acid (TPT)IBA
11/2021
1SCO-spondinIBA
11/2021
1Bone Morphogenetic Proteins (Bone Morphogenetic Protein)IBA
01/2021
1antineoplaston A10 (A 10)IBA
08/2018
1Growth Hormone (Somatotropin)IBA
02/2014
1Semaphorin-3AIBA
05/2012
1Genetic Markers (Genetic Marker)IBA
04/2012
1Proteins (Proteins, Gene)FDA Link
03/2009

Therapy/Procedure

1Therapeutics
02/2014