Search Results - "Harper PS"

Metabolic and behavioral effects of neurofibromin result from differential recruitment of MAPK and mTOR signaling.

Authors: Botero, Valentina Barrios, Jenifer Knauss, Anneke et al.

Source: PLoS Genetics. 3/5/2026, Vol. 22 Issue 3, p1-25. 25p.

Partial Trisomy of Chromosome 9 Inherited by Adjacent Segregation 2 of a Balanced Reciprocal Translocation in the Mother: Rare Mechanism in Chromosomal Abnormalities.

Authors: Zerrouki, K Aouni, F E Smaili, F et al.

Source: Balkan Journal of Medical Genetics. Jun2025, Vol. 28 Issue 1, p1-4. 4p.

Undisclosed facts in Friedrich Wegener's links with Nazism.

Authors: Arkuszewski, Piotr Cieślak‐Arkuszewska, Adriana

Source: Histopathology. Feb2025, Vol. 86 Issue 3, p317-326. 10p.

Small bowel obstruction from jejunal gastrointestinal stromal tumour in a young adult with neurofibromatosis type 1: a case report.

Authors: Fareed, Anaan Barrett, Jordan Al-Mashat, Ali et al.

Source: Journal of Surgical Case Reports. Jan2026, Vol. 2026 Issue 1, p1-3. 3p.

Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy.

Authors: Sanson, Benoît Stalens, Caroline Guien, Céline et al.

Source: Orphanet Journal of Rare Diseases. 3/2/2022, Vol. 17 Issue 1, p1-12. 12p.

Modelling the epidemiology of Duchenne muscular dystrophy provides insights into the overall population and selected subpopulations in nine countries.

Authors: Lorenz, Christina Kapoor, Aakriti Tomar, Akanksha et al.

Source: Journal of Rare Diseases. 12/5/2025, Vol. 4 Issue 1, p1-9. 9p.

50 Jahre (und mehr) Humangenetik/Medizinische Genetik in Berlin.

Authors: Mundlos, Stefan Spielmann, Malte Sperling, Karl et al.

Source: Medizinische Genetik. Jul2026, Vol. 38 Issue 3, p247-251. 5p.

Neurofibromatosis-Noonan syndrome: a prospective monocentric study of 26 patients and literature review.

Authors: Bessis, Didier Vidaud, Dominique Meyer, Pierre et al.

Source: Orphanet Journal of Rare Diseases. 4/27/2025, Vol. 20 Issue 1, p1-10. 10p.

Spectrum of glucose-6-phosphate dehydrogenase (G6PD) mutations and trends in hemoglobin levels among adult dengue patients in Thailand.

Authors: Chamnanchanunt, Supat Jacob, Beatriz Aira C. Thanachartwet, Vipa et al.

Source: PLoS ONE. 9/18/2025, Vol. 20 Issue 9, p1-20. 20p.

A classical variant of ectodermal dysplasia: a case report.

Authors: Jawade, Switi Wankhede, Pratibha Sharma, Ranjana et al.

Source: Pan African Medical Journal. Sep-Dec2025, Vol. 52, p1-6. 6p.

Facial Neurocutaneous Markers and their Clinical Profile-A Case Series.

Authors: MUKHERJEE, BIBEKANANDA DAS, BARNALI DAS, JOYDEEP

Source: Journal of Clinical & Diagnostic Research. May2023, Vol. 17 Issue 5, p1-5. 5p.

Breast carcinoma in a patient with neurofibromatosis type 1 and huge plexiform neurofibroma of the contralateral breast: a case report.

Authors: Kouli, Ayla Alayoubi, Alyaa Alali, Mousa et al.

Source: BMC Women's Health. 7/21/2025, Vol. 25 Issue 1, p1-5. 5p.

Unmet needs of adults living with mucopolysaccharidosis II: data from the Hunter Outcome Survey.

Authors: Muenzer, Joseph Amartino, Hernan Giugliani, Roberto et al.

Source: Orphanet Journal of Rare Diseases. 7/1/2025, Vol. 20 Issue 1, p1-15. 15p.

How the prospect of a clinical trial impacts decision-making for predictive genetic testing in ALS.

Authors: Fontaine, Myriam Horowitz, Kayla Anoja, Nancy et al.

Source: Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. May2025, Vol. 26 Issue 3/4, p343-351. 9p.

The Muscleblind-like protein MBL-1 regulates microRNA expression in Caenorhabditis elegans through an evolutionarily conserved autoregulatory mechanism.

Authors: Verbeeren, Jens Teixeira, Joana Garcia, Susana M. D. A.

Source: PLoS Genetics. 12/22/2023, Vol. 19 Issue 12, p1-31. 31p.

CAG repeat expansion in the Huntington's disease gene shapes linear and circular RNAs biogenesis.

Authors: Ayyildiz, Dilara Bergonzoni, Guendalina Monziani, Alan et al.

Source: PLoS Genetics. 10/13/2023, Vol. 19 Issue 10, p1-29. 29p.

Reasons for and against presymptomatic genetic testing in frontotemporal dementia: a qualitative study.

Authors: Graafland CH Seelaar H Panman JL et al.

Source: Human genetics [Hum Genet] 2026 Feb 16; Vol. 145 (1), pp. 21. Date of Electronic Publication: 2026 Feb 16.

Publication Type: Journal Article

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Characterizing white matter hyperintensities in myotonic dystrophy type 1 through IVIM derived metrics.

Authors: Di Stefano, Marina Agarwal, Nivedita Canella, Giulia et al.

Source: Scientific Reports. 12/2/2025, Vol. 15 Issue 1, p1-16. 16p.

Rare Complication of Renal Torsion in Autosomal Dominant Polycystic Kidney Disease following an Intraperitoneal Kidney Transplantation.

Authors: Silveri, Olivia C. Ghosheh, Feras

Source: Case Reports in Nephrology & Dialysis. 2025, Vol. 15 Issue 1, p150-160. 11p.

Discrimination of benign, atypical, and malignant peripheral nerve sheath tumours in neurofibromatosis type 1 – intraindividual comparison of positron emission computed tomography and diffusion-weighted magnetic resonance imaging.

Authors: Ristow, Inka Apostolova, Ivayla Kaul, Michael G. et al.

Source: EJNMMI Research. 12/27/2024, Vol. 14 Issue 1, p1-12. 12p.