Results 101 to 110 of about 130,744 (316)

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

Muscle adaptation in the craniofacial region : proceedings of a sponsored symposium honoring Professor Robert E. Moyers, held February 24 and 25, 1978, in Ann Arbor, Michigan

, 1978
http://babel.hathitrust.org/cgi/pt?id=mdp.39015054422301;view=2up;ui=fullscreen#page/n0/mode ...
Symposium on Craniofacial Growth
core  

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source

Visual pathway-related horizontal reference plane for three-dimensional craniofacial analysis

, 2012
OBJECTIVES: To construct three-dimensional (3D) horizontal reference planes based on visual pathway and to determine their stability and reliability by analyzing the structural patterns of normal and dysmorphology for 3D craniofacial analysis.
김봉철, 김학진, 탁혜진, 김문기, 박경란, 이상휘   +5 more
core   +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

Non-syndromic Cleft Lip and Palate Polymorphisms Affect Normal Lip Morphology

Frontiers in Genetics, 2018
Non-syndromic cleft lip with or without palate (NSCL/P) is a frequent malformation of the facial region. Genetic variants (SNPs) within nineteen loci have been previously associated with NSCL/P in GWAS studies of European individuals.
Caryl Wilson-Nagrani, Stephen Richmond, Lavinia Paternoster   +2 more
doaj   +1 more source

Near infrared photography for craniofacial anthropometric landmark measurement

, 2006
Photogrammetry has been recognised as an essential tool for the capture of spatial data to populate a craniofacial spatial database. A craniofacial database aims to provide medical practitioners with accurate craniofacial measurements for medical ...
Mathieu, Renaud, Renaud Mathieu, Albert K. Chong, Chong, Albert K.   +3 more
core   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Genetic requirement of dact1/2 to regulate noncanonical Wnt signaling and calpain 8 during embryonic convergent extension and craniofacial morphogenesis

eLife
Wnt signaling plays crucial roles in embryonic patterning including the regulation of convergent extension (CE) during gastrulation, the establishment of the dorsal axis, and later, craniofacial morphogenesis.
Shannon H Carroll, Sogand Schafer, Kenta Kawasaki, Casey Tsimbal, Amelie M Jule, Shawn A Hallett, Edward Li, Eric C Liao   +7 more
doaj   +1 more source

Craniofacial Growth Studies and Craniofacial Growth

The FASEB Journal, 2019
Current understandings of human craniofacial growth are based on multiple historic longitudinal growth studies. The extent to which regional variation in growth patterns is present among the various growth studies even within the United States, however, is not well understood. The aim of this study is to compare growth patterns across six of the nation'
Richard J Sherwood, Kieran P McNulty, Manish Valiathan, Dana L Duren, Ryan P Knigge, Anna M Hardin, Hee Soo Oh, Emily V Leary   +7 more
openaire   +1 more source