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Showing 1 to 7 of 7 entries
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Mutation spectrum in South American Lynch syndrome families.

Hereditary cancer in clinical practice

Dominguez-Valentin M, Nilbert M, Wernhoff P, López-Köstner F, Vaccaro C, Sarroca C, Palmero EI, Giraldo A, Ashton-Prolla P, Alvarez K, Ferro A, Neffa F, Caris J, Carraro DM, Rossi BM.
PMID: 24344984
Hered Cancer Clin Pract. 2013 Dec 18;11(1):18. doi: 10.1186/1897-4287-11-18.

BACKGROUND: Genetic counselling and testing for Lynch syndrome have recently been introduced in several South American countries, though yet not available in the public health care system.METHODS: We compiled data from publications and hereditary cancer registries to characterize the...

Source document verification in the Mucopolysaccharidosis Type I Registry.

Pharmacoepidemiology and drug safety

Verhulst K, Artiles-Carloni L, Beck M, Clarke JT, Neto JC, Cox GF, Fernhoff PM, Guffon N, Kong Y, Martins AM, Tylki-Szymanska A, Whitley CB, Wijburg FA, Wraith EJ, Koepper CM.
PMID: 22170853
Pharmacoepidemiol Drug Saf. 2012 Jul;21(7):749-752. doi: 10.1002/pds.2200. Epub 2011 Dec 14.

PURPOSE: The Mucopolysaccharidosis Type I (MPS I) Registry is an international observational database that tracks the natural history and the outcomes of patients with MPS I. The Registry was a regulatory requirement following the approval of laronidase enzyme replacement...

Canine scent detection of canine cancer: a feasibility study.

Veterinary medicine (Auckland, N.Z.)

Dorman DC, Foster ML, Fernhoff KE, Hess PR.
PMID: 30050858
Vet Med (Auckl). 2017 Oct 26;8:69-76. doi: 10.2147/VMRR.S148594. eCollection 2017.

The scent detection prowess of dogs has prompted interest in their ability to detect cancer. The purpose of this study was to determine whether dogs could use olfactory cues to discriminate urine samples collected from dogs that did or...

A Three-dimensional Ex Vivo Viability Assay Reveals a Strong Correlation Between Response to Targeted Inhibitors and Mutation Status in Melanoma Lymph Node Metastases.

Translational oncology

Flørenes VA, Flem-Karlsen K, McFadden E, Bergheim IR, Nygaard V, Nygård V, Farstad IN, Øy GF, Emilsen E, Giller-Fleten K, Ree AH, Flatmark K, Gullestad HP, Hermann R, Ryder T, Wernhoff P, Mælandsmo GM.
PMID: 31096111
Transl Oncol. 2019 Jul;12(7):951-958. doi: 10.1016/j.tranon.2019.04.001. Epub 2019 May 13.

Although clinical management of melanoma has changed considerably in recent years, intrinsic treatment resistance remains a severe problem and strategies to design personal treatment regimens are highly warranted. We have applied a three-dimensional (3D) ex vivo drug efficacy assay,...

MLH1 Ile219Val Polymorphism in Argentinean Families with Suspected Lynch Syndrome.

Frontiers in oncology

Dominguez-Valentin M, Wernhoff P, Cajal AR, Kalfayan PG, Piñero TA, Gonzalez ML, Ferro A, Sammartino I, Causada Calo NS, Vaccaro CA.
PMID: 27606285
Front Oncol. 2016 Aug 24;6:189. doi: 10.3389/fonc.2016.00189. eCollection 2016.

No abstract available.

Clinic-based infant screening for duchenne muscular dystrophy: a feasibility study.

PLoS currents

Cyrus A, Street N, Quary S, Kable J, Kenneson A, Fernhoff P.
PMID: 22866242
PLoS Curr. 2012 May 02;e4f99c5654147a. doi: 10.1371/4f99c5654147a.

Purpose. The purpose of this study was to assess the desirability of Duchenne muscular dystrophy (DMD) screening, the effectiveness of the consent process, and the feasibility of conducting DMD screening in a pediatric office. Methods. Infant males who attended...

Dysregulation of MITF Leads to Transformation in MC1R-Defective Melanocytes.

Cancers

Lavelle TJ, Alver TN, Heintz KM, Wernhoff P, Nygaard V, Nakken S, Øy GF, Bøe SL, Urbanucci A, Hovig E.
PMID: 32605315
Cancers (Basel). 2020 Jun 28;12(7). doi: 10.3390/cancers12071719.

The MC1R/cAMP/MITF pathway is a key determinant for growth, differentiation, and survival of melanocytes and melanoma. MITF-M is the melanocyte-specific isoform of Microphthalmia-associated Transcription Factor (MITF) in human melanoma. Here we use two melanocyte cell lines to show that...

Showing 1 to 7 of 7 entries