Results 171 to 180 of about 17,626 (302)

Buschke-Löwenstein Tumor of the Vulva: Clinical Neglect, Molecular Continuum, and Pathogenetic Insights. [PDF]

Cureus
Martínez-Ortega JI, Rosas-Lezama FI, Ramirez Cibrian AG.   +2 more
europepmc   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Uterine Transplantation for Absolute Uterine Factor Infertility: From Bench to Bedside. [PDF]

Cureus
Sanson-Riofrio JA, Brito-Toledo I, Morelia A, Vacio Olguin AJ, Rayas Ruiz D, Garcia MDR, Robles RD, Ruiz-Matus S, Goldstein P, M Meraz M.   +9 more
europepmc   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

The problem of the historical Jesus in the theology of Paul Tillich. [PDF]

, 1973
Palmer, Michael F.
core  

Sustained Complete Remission After a Single Cycle of R-CHOP in Extranodal Diffuse Large B-Cell Lymphoma of the Mandible: A Case Report. [PDF]

Cureus
Furlan Silva Fabri R, Patel S, De Melo Rodrigues RM, Gomez J.   +3 more
europepmc   +1 more source

A Global Prospective Harmonization Framework for Suicidality, Anhedonia, and Obsessive‐Compulsive Symptoms in Psychiatric Genetic Studies: A Cross‐Continental Study Within the Ancestral Population Network

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT This study aims to prospectively collect harmonized, quantitative, and dimensional psychiatric phenotypes (suicidality, anhedonia, and obsessive‐compulsive symptoms) and information on discrimination, stigma, and unfair treatment in up to 27,500 individuals across diverse ancestries and clinical populations for genetic analysis within the NIMH
Ana M. Diaz‐Zuluaga, Jacey L. Anderberg, Ana M. Ramirez‐Diaz, Andrea Horvath Marques, Catherine E. Rast, Daniel Bustamante, Deborah Jonker, Johanna Valencia‐Echeverry, Joseph Kyebuzibwa, Josselyn S. Muñoz, Kristien van der Walt, Mauricio Castaño Ramirez, Olivia Wootton, Renee M. Frederick, Rocky E. Stroud II, Ruben Gur, Sang Jin Rhee, Shaili C. Jha, Stella Gichuru, Susan Service, Victor I. Reus, Akena Dickens, Carlos Lopez‐Jaramillo, Carrie E. Bearden, Dan J. Stein, Ezra S. Susser, James J. Crowley, Jonathan Flint, Kenneth S. Kendler, Lukoye Atwoli, Michele T. Pato, Nelson B. Freimer, Roel A. Ophoff, Yong Min Ahn, Loes Olde Loohuis, Eric A. Storch, Bizu Gelaye   +36 more
wiley   +1 more source

Dengue Epidemiology in Mexico: Temperature as a Contributing Factor to National Dengue Trends. [PDF]

Diseases
Bello-López JM, Razo Blanco-Hernández DM, Nolasco-Rojas AE, Durán-Manuel EM, Gutiérrez-Muñoz VH, Moncayo-Coello CV, Meléndez-Ordoñez JA, Díaz-Quiñonez JA, Ramírez-Hernández MDC, López-Ornelas A, Tamayo-Ordóñez MC, Tamayo-Ordóñez YJ, Tamayo-Ordóñez FA, Hernández-Castellanos B, Zárate-Sánchez LG, Sosa-Hernández O, Castañeda-Ortega JC, Calzada-Mendoza CC, Cárdenas-Cantero A, Cruz-Cruz C, Loyola-Cruz MÁ.   +20 more
europepmc   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Late Recognition of Autism Previously Diagnosed as Schizophrenia Following a Brief Psychotic Episode: A Case Report. [PDF]

Cureus
Garza Guerra AJ, Mata Cortes EDR, Adame Rocha GH, Montemayor Mancias AC.   +3 more
europepmc   +1 more source