Results 91 to 100 of about 76,690 (303)

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

Single cell spatial transcriptomics links Wnt signaling disruption to extracellular matrix development in a cleft palate model

Scientific Reports
Despite advances in understanding the morphological disruptions that lead to defects in palate formation, the precise perturbations within the signaling microenvironment of palatal clefts remain poorly understood.
Jeremie Oliver Piña, Resmi Raju, Evan Stipano, Aye Chan Myo, Ziyi Wang, Mitsuaki Ono, Parna Chattaraj, Masae Furukawa, Rena N. D’Souza   +8 more
doaj   +1 more source

Determinants of mandibular form and growth : proceedings of a sponsored symposium honoring Professor Robert E. Moyers held February 21 and 22, 1975, in Ann Arbor, Michigan

, 1975
http://babel.hathitrust.org/cgi/pt?id=mdp.39015007427209;view=2up;ui=fullscreen#page/n0/mode ...
Symposium on Craniofacial Growth
core  

A metric study of three types of artificial cranial modification from north-central Peru

, 2010
Artificial cranial modification (ACM) involves the alteration of cranial vault shape by cultural means, and is performed during infancy while the cranial bones remain soft and malleable.
Zakrzewski, Sonia, Stock, Jay T., Mirazon Lahr, Marta, Pomeroy, Emma   +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

Mesenchymal stem cells in craniofacial reconstruction: a comprehensive review

Frontiers in Molecular Biosciences
Craniofacial reconstruction faces many challenges, including high complexity, strong specificity, severe injury, irregular and complex wounds, and high risk of bleeding.
Zizhuo Zheng, Hanghang Liu, Shibo Liu, En Luo, Xian Liu   +4 more
doaj   +1 more source

Growth modification : what works, what doesn't, and why

, 1999
http://babel.hathitrust.org/cgi/pt?id=mdp.39015046466275;view=2up;ui=fullscreen#page/n0/mode ...
Symposium on Craniofacial Growth
core  

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

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Neural regulation of mesenchymal stem cells in craniofacial bone: development, homeostasis and repair

Frontiers in Physiology
Mesenchymal stem cells endow various functions, including proliferation, multipotency, migration, etc. Craniofacial bones originate from the cranial neural crest and are developed mainly through intramembranous ossification, which are different from long
Huai-Jin Pi, Bo Huang, Quan Yuan, Jun-Jun Jing   +3 more
doaj   +1 more source