Characterization of molecular bases of Myhre syndrome
A Traversa - 2016 - iris.uniroma1.it
… The main purpose of this thesis was the investigation of the molecular bases of Myhre
syndrome through functional and in silico approaches. Molecular studies and assays on cell …
syndrome through functional and in silico approaches. Molecular studies and assays on cell …
Myhre syndrome
C Le Goff, C Michot, V Cormier‐Daire - Clinical genetics, 2014 - Wiley Online Library
… First described in 1981 by Myhre, Ruvalcaba and Graham 1, the Myhre syndrome (MS) is
characterized by short stature, brachydactyly, facial dysmorphism (short palpebral fissures, …
characterized by short stature, brachydactyly, facial dysmorphism (short palpebral fissures, …
Novel SMAD4 mutation causing Myhre syndrome
V Caputo, G Bocchinfuso, M Castori… - American Journal of …, 2014 - Wiley Online Library
… ), Moore-Federman (OMIM 127200), and stiff skin syndrome (OMIM 184900). Although
the molecular bases for some of these clinically related conditions are unknown, increasing …
the molecular bases for some of these clinically related conditions are unknown, increasing …
[PDF][PDF] A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome
… Although the molecular basis for some of these clinically related conditions is unknown, …
mutated in Myhre syndrome. Eight subjects with clinical features fitting Myhre syndrome were …
mutated in Myhre syndrome. Eight subjects with clinical features fitting Myhre syndrome were …
[HTML][HTML] SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan
P Piccolo, P Mithbaokar, V Sabatino, J Tolmie… - European Journal of …, 2014 - nature.com
… Molecular bases of these conditions have been recently elucidated and alterations in
transforming growth factor β (TGF-β) signaling have been recognized as a common pathogenic …
transforming growth factor β (TGF-β) signaling have been recognized as a common pathogenic …
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome
… with Myhre syndrome, we identified SMAD4 as a candidate gene that contributes to this
syndrome on the basis … for Ile500 in 11 individuals with Myhre syndrome. All three mutations are …
syndrome on the basis … for Ile500 in 11 individuals with Myhre syndrome. All three mutations are …
[HTML][HTML] Natural history of Myhre syndrome
DD Yang, M Rio, C Michot, N Boddaert… - Orphanet Journal of …, 2022 - Springer
… Bilateral otospongiosis and a unilateral vestibular schwannoma in a patient with Myhre
syndrome. Otol Neurotol Off Publ Am Otol Soc Am Neurotol Soc Eur Acad Otol Neurotol. 2014;35:…
syndrome. Otol Neurotol Off Publ Am Otol Soc Am Neurotol Soc Eur Acad Otol Neurotol. 2014;35:…
Natural history and life-threatening complications in Myhre syndrome and review of the literature
L Garavelli, I Maini, F Baccilieri, I Ivanovski… - European journal of …, 2016 - Springer
… Myhre syndrome (OMIM 139210) is a rare developmental … of the clinical features of Myhre
syndrome during childhood in a … -threatening complications of Myhre syndrome that justify the …
syndrome during childhood in a … -threatening complications of Myhre syndrome that justify the …
Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
…, MGH Myhre Syndrome Study Group… - American Journal of …, 2024 - Wiley Online Library
… The molecular basis of Myhre syndrome was reported as missense … The molecular mechanisms
underlying Myhre syndrome … with the recognition that Myhre syndrome shared the same …
underlying Myhre syndrome … with the recognition that Myhre syndrome shared the same …
Myhre syndrome: a rare craniofacial disorder
N Ishibashi, Y Sasaki, Y Asakura - CRANIO®, 2014 - Taylor & Francis
… in cells from a Myhre syndrome case. Citation10 Heterozygous missense SMAD4 mutations
have also been identified in subjects affected with Myhre syndrome, Citation11 while the …
have also been identified in subjects affected with Myhre syndrome, Citation11 while the …