Madelena Martin

Associate Professor

  • 234 Citations
  • 6 h-Index
20062018
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Fingerprint Dive into the research topics where Madelena Martin is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

Proton-Coupled Folate Transporter Medicine & Life Sciences
Mutation Medicine & Life Sciences
Lamellar Ichthyosis Medicine & Life Sciences
Menkes Kinky Hair Syndrome Medicine & Life Sciences
Arachnoid Cysts Medicine & Life Sciences
Puerto Rico Medicine & Life Sciences
Severe Combined Immunodeficiency Medicine & Life Sciences
Subdural Hematoma Medicine & Life Sciences

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Research Output 2006 2018

  • 234 Citations
  • 6 h-Index
  • 7 Article
  • 1 Review article
2 Citations (Scopus)

Wieacker–Wolff syndrome with associated cleft palate in a female case

Godfrey, N. D., Dowlatshahi, S., Martin, M. & Rothkopf, D. M., Jan 1 2018, In : American Journal of Medical Genetics, Part A. 176, 1, p. 167-170 4 p.

Research output: Contribution to journalArticle

Cleft Palate
Spinal Muscular Atrophy
Mutation
Medical Genetics
Contracture
3 Citations (Scopus)

Menkes Disease Mimicking Child Abuse

Droms, R. J., Rork, J. F., McLean, R., Martin, M., Belazarian, L. & Wiss, K., May 1 2017, In : Pediatric Dermatology. 34, 3, p. e132-e134

Research output: Contribution to journalArticle

Menkes Kinky Hair Syndrome
Subdural Hematoma
Child Abuse
Rib Fractures
Bone and Bones
14 Citations (Scopus)

Prevalence of a loss-of-function mutation in the proton-coupled folate transporter gene (PCFT-SLC46A1) causing hereditary folate malabsorption in Puerto Rico

Mahadeo, K. M., Diop-Bove, N., Ramirez, S. I., Cadilla, C. L., Rivera, E., Martin, M., Lerner, N. B., Diantonio, L., Duva, S., Santiago-Borrero, P. J. & Goldman, I. D., Oct 1 2011, In : Journal of Pediatrics. 159, 4

Research output: Contribution to journalArticle

Proton-Coupled Folate Transporter
Puerto Rico
Mutation
Genes
Hispanic Americans
35 Citations (Scopus)

Reversible severe combined immunodeficiency phenotype secondary to a mutation of the proton-coupled folate transporter

Borzutzky, A., Crompton, B., Bergmann, A. K., Giliani, S., Baxi, S., Martin, M., Neufeld, E. J. & Notarangelo, L. D., Dec 1 2009, In : Clinical Immunology. 133, 3, p. 287-294 8 p.

Research output: Contribution to journalArticle

Proton-Coupled Folate Transporter
Severe Combined Immunodeficiency
Phenotype
Mutation
Leucovorin
41 Citations (Scopus)

KBG syndrome: Report of twins, neurological characteristics, and delineation of diagnostic criteria

Skjei, K. L., Martin, M. & Slavotinek, A. M., Feb 1 2007, In : American Journal of Medical Genetics, Part A. 143, 3, p. 292-300 9 p.

Research output: Contribution to journalReview article

Seizures
Hand
Intellectual Disability
Publications
Bone and Bones