Results 81 to 90 of about 17,155 (256)

Treatment Modalities to Achieve Nasal Symmetry in Unilateral Cleft Lip/Nasal Deformity: An Objective and Comparative Evaluation. [PDF]

J Maxillofac Oral Surg, 2023
Mustafa K, Fatima S, Ashith MV, Goyal JN, Varshini A, Aftab A.   +5 more
europepmc   +1 more source

Cellular basis for blade splitting in bull kelp, Nereocystis luetkeana

American Journal of Botany, EarlyView.
Abstract Premise Blade splitting in bull kelp, Nereocystis luetkeana is central to thallus development and function, yet the cellular basis of this process remains poorly understood. Two historical models proposed contrasting mechanisms: One attributes blade separation primarily to programmed cell death, whereas the other suggests mechanical tearing ...
Alana K. Breitkreutz, Patrick T. Martone
wiley   +1 more source

Diagnosis and Management of Common Presentations of Posttraumatic Nasal Deformity: A Narrative Review. [PDF]

Plast Reconstr Surg Glob Open, 2023
Georgolios A, Cooper DJ, Tham T.
europepmc   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Nasal Septal perforation: Iatrogenic, Autoimmune or Infective? A diagnostic Challenge

Bengal Journal of Otolaryngology and Head Neck Surgery
Introduction: Nasal septal perforation is a rare but significant clinical condition that may present with symptoms such as nasal discharge, crusting, bleeding, and deformity.
SANTOSH KESARI, Neeraj Chhabra, Mingma Sherpa   +2 more
doaj   +1 more source

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Retrospective study on primary rhinoplasty for unilateral complete cleft lip nasal deformity. [PDF]

Hua Xi Kou Qiang Yi Xue Za Zhi, 2023
Bi S, Ren Z, Li J, Tao Y, Gao M.
europepmc   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Outcome of Concurrent Septorhinoplasty and Functional Endoscopic Sinus Surgery (FESS) in Patients with Sinusitis and Nasal Deformity: A Retrospective Study and Review of Literature. [PDF]

Indian J Otolaryngol Head Neck Surg, 2023
Sinha M, Patil RN.
europepmc   +1 more source