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Total 794 results found since Jan 2013.
Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly
In this study, we expand the phenotype of MCPH3 as we describe a 10-year-old girl with a biallelic exonic frameshift variant in CDK5RAP2 displaying previously unreported features usually associated with Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II (MOPDII). We further describe the clinical phenotype of this form of centrosomal-based primary microcephaly and emphasize the importance of skeletal defect screening in affected individuals.PMID:36842471 | DOI:10.1016/j.ejmg.2023.104733
Source: European Journal of Medical Genetics - February 26, 2023 Category: Genetics & Stem Cells Authors: Quentin Sabbagh Myl ène Tharreau Camille Cenni Elodie Sanchez Nathalie Ruiz-Pallares Fanny Alkar Cyril Amouroux St éphanie David Nicolas Leboucq Isabelle Meunier Didier Bessis Alexandre Theron Mouna Barat-Houari Marjolaine Willems Source Type: research
SUFU-associated Gorlin syndrome: Expanding the spectrum between classic nevoid basal cell carcinoma syndrome and multiple hereditary infundibulocystic basal cell carcinoma
We present two patients with MHIBCC, along with a more complex cutaneous and extracutaneous phenotype. MHIBCC syndrome and BCNS may share clinical features and, indeed, both syndromes probably represent different degrees of upregulation in the Hh pathway.PMID:36825822 | DOI:10.1111/ajd.14014
Source: The Australasian Journal of Dermatology - February 24, 2023 Category: Dermatology Authors: Marcial Álvarez-Salafranca Mar Garc ía-García Andrea Montes-Torres Ignacio Rivera-Fuertes Mar ía Teresa López-Giménez Mariano Ara Source Type: research
Cardiac Fibroma Presenting With Left Bundle Branch Block in an Adult With Gorlin Syndrome
Tex Heart Inst J. 2023 Jan 1;50(1):e207247. doi: 10.14503/THIJ-20-7247.NO ABSTRACTPMID:36763932 | DOI:10.14503/THIJ-20-7247
Source: Texas Heart Institute Journal - February 10, 2023 Category: Cardiology Authors: Kumar Jatti Ramya Dhandapani Vishal Sharma Balazs Ruzsics Source Type: research
Calcifying odontogenic cyst associated with compound odontoma & #8211; A rare entity
BK Akshatha, GS Manjunath, N SoundaryaJournal of Oral and Maxillofacial Pathology 2023 27(5):69-74
Calcifying odontogenic cyst (COC) or Gorlin's cyst categorized as a distinct entity by Gorlin et al. in 1962. It is a rare benign developmental cystic lesion that accounts for less than 1% of all odontogenic cysts. It can occur in association with various types of odontogenic tumors such as odontomas. COC is a hybrid lesion of the jaw presenting a manifold variety of clinical behaviors and histopathological characteristics including cystic, solid (neoplastic), and aggressive forms. COC exhibits diversit...
Source: Journal of Oral and Maxillofacial Pathology - February 4, 2023 Category: ENT & OMF Authors: BK Akshatha GS Manjunath N Soundarya Source Type: research
Doppler Ultrasound Peak Systolic Velocity versus End Tidal Carbon Dioxide during Pulse Checks in Cardiac Arrest1
An accurate, non-invasive measure of return of spontaneous circulation (ROSC) is needed to improve management of cardiac arrest patients.
Source: Resuscitation - January 13, 2023 Category: Emergency Medicine Authors: Ghania Haddad, Deanna Margius, Allison L. Cohen, Margaret Gorlin, Daniel Jafari, Timmy Li, Casey Owens, Lance Becker, Daniel M. Rolston Tags: Clinical paper Source Type: research
Demographics of first-time donors returning for donation during the pandemic: COVID-19 convalescent plasma vs standard blood product donors
Transfusion. 2022 Dec 22. doi: 10.1111/trf.17229. Online ahead of print.NO ABSTRACTPMID:36550639 | DOI:10.1111/trf.17229
Source: Transfusion - December 23, 2022 Category: Hematology Authors: Nancy L Van Buren Srijana Rajbhandary Vanessa Reynolds Jed B Gorlin Susan L Stramer Edward P Notari Galen Conti Louis Katz James R Stubbs Camille M van Buskirk Kip Kuttner Debra L Smith Samantha G Ngamsuntikul Suchitra Pandey Dawn C Ward Alyssa Ziman Matt Source Type: research
