Pablo Lapunzina Selected Research

Syndromic 6 Microphthalmia

1/2019

Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases.

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Pablo Lapunzina Research Topics

Disease

5	Neoplasms (Cancer) 01/2021 - 01/2008
3	Imprinting Disorders 10/2016 - 04/2013
2	Autosomal Dominant Polycystic Kidney (ADPKD) 08/2021 - 01/2020
2	Pulmonary Arterial Hypertension 01/2021 - 01/2021
2	Hirschsprung Disease (Hirschsprung's Disease) 10/2020 - 10/2020
2	Muscular Diseases (Myopathy) 01/2019 - 11/2014
2	Hypophosphatasia 03/2017 - 04/2016
2	Intellectual Disability (Idiocy) 01/2017 - 08/2013
2	Beckwith-Wiedemann Syndrome (Exomphalos Macroglossia Gigantism Syndrome) 10/2016 - 11/2014
2	Osteogenesis Imperfecta (Lobstein Disease) 05/2014 - 07/2010
2	Hyperekplexia 08/2012 - 01/2003
1	Hypokalemia 01/2022
1	Rare Diseases (Rare Disease) 01/2022
1	Gitelman Syndrome 01/2022
1	Hypotension (Low Blood Pressure) 01/2022
1	COVID-19 03/2021
1	Infections 03/2021
1	Disease Progression 01/2021
1	Pulmonary Veno-Occlusive Disease (Veno Occlusive Disease, Pulmonary) 01/2021
1	Inflammation (Inflammations) 01/2021
1	Biliary Liver Cirrhosis (Primary Biliary Cirrhosis) 01/2021
1	Dwarfism 01/2021
1	Vascular Remodeling 01/2021
1	type 2 Syndactyly 01/2021
1	Renal hypouricemia 01/2020
1	Acute Kidney Injury (Acute Renal Failure) 01/2020
1	Chronic Renal Insufficiency 01/2020
1	Syndromic 6 Microphthalmia 01/2019
1	Hearing Loss (Hearing Impairment) 01/2019
1	Minicore Myopathy with External Ophthalmoplegia 01/2019
1	Microphthalmos 01/2019
1	Acoustic Neuroma (Acoustic Neurinoma) 01/2019
1	Nephrogenic Diabetes Insipidus 01/2019
1	Pain (Aches) 01/2019
1	Polyuria 01/2019
1	Prostatic Neoplasms (Prostate Cancer) 01/2019
1	Hyperplasia 01/2019
1	Agammaglobulinemia (Hypogammaglobulinemia) 07/2018
1	Marshall-Smith syndrome 01/2018
1	Blepharo-cheilo-dontic syndrome 01/2018
1	CLAPO Syndrome 01/2018
1	Congenital Abnormalities (Deformity) 01/2018
1	Hypothyroidism 01/2017
1	Specific Language Disorder 01/2017
1	Aniridia 01/2017
1	Persistent Fetal Circulation Syndrome 05/2016
1	Tooth Loss 04/2016
1	Cleidocranial Dysplasia (Cleidocranial Dysostosis) 04/2016
1	Hypochromic Anemia (Chlorosis) 04/2016

Drug/Important Bio-Agent (IBA)

7	Proteins (Proteins, Gene)FDA Link 01/2021 - 01/2008
4	DNA (Deoxyribonucleic Acid)IBA 01/2018 - 06/2005
3	Nonsense Codon (Nonsense Mutation)IBA 01/2020 - 06/2015
2	Amino Acids FDA Link 03/2021 - 05/2007
2	Biomarkers (Surrogate Marker)IBA 01/2021 - 01/2019
2	Transcription Factors (Transcription Factor)IBA 01/2021 - 04/2016
2	CarcinogensIBA 10/2020 - 10/2020
2	Protein Isoforms (Isoforms)IBA 01/2019 - 04/2016
2	Immunoglobulins (Immunoglobulin)IBA 01/2019 - 01/2017
2	Alkaline PhosphataseIBA 03/2017 - 04/2016
2	SilverIBA 10/2016 - 01/2016
2	Serine (L-Serine)FDA Link 06/2015 - 03/2010
2	Collagen Type I (Type I Collagen)IBA 05/2014 - 07/2010
1	SaltsIBA 01/2022
1	Tolvaptan FDA Link 08/2021
1	polyglutamineIBA 03/2021
1	Testosterone (Sustanon)FDA Link 03/2021
1	Androgen Receptors (Androgen Receptor)IBA 03/2021
1	Vasodilator Agents (Vasodilators)IBA 01/2021
1	TNF Receptor-Associated Factor 2 (TRAF2)IBA 01/2021
1	MAP-kinase-activated kinase 5IBA 01/2021
1	Growth Hormone (Somatotropin)IBA 01/2021
1	Uric Acid (Urate)IBA 01/2020
1	Complement C3 (C3 Complement)IBA 01/2019
1	Sirolimus (Rapamycin)FDA Link 01/2019
1	Bone Morphogenetic Protein 4IBA 01/2019
1	ChemokinesIBA 01/2019
1	Arginine Vasopressin (Argipressin)IBA 01/2019
1	HSP70 Heat-Shock Proteins (Heat-Shock Protein 70)IBA 01/2019
1	Low Density Lipoprotein Receptor-Related Protein-2IBA 01/2019
1	Crystallins (Crystallin)IBA 01/2019
1	AntigensIBA 07/2018
1	Immunoglobulin G (IgG)IBA 07/2018
1	Polysaccharides (Glycans)IBA 07/2018
1	Ethylnitrosourea (N-Ethyl-N-nitrosourea)IBA 01/2018
1	CateninsIBA 01/2018
1	Cadherins (E-Cadherin)IBA 01/2018
1	Codon (Codons)IBA 01/2018
1	N- (4'- fluorobutyrophenone)- 4- (4- chlorophenyl)pyridinium (HPP(+))IBA 03/2017
1	Forkhead Transcription Factors (Forkhead Box Proteins)IBA 01/2017
1	Hormones (Hormone)IBA 01/2017
1	Activins (Activin)IBA 01/2017
1	Long Noncoding RNAIBA 05/2016
1	Phosphates (Orthophosphate)IBA 04/2016
1	IronIBA 04/2016
1	UbiquitinIBA 12/2015

Therapy/Procedure

2	Therapeutics 01/2022 - 03/2021
2	Sutures (Suture) 07/2015 - 01/2005
1	Critical Care (Surgical Intensive Care) 03/2021
1	Castration 01/2019
1	Ligation 01/2017