Cargando…

Mapping mutations in a mouse model of Meckel-Gruber syndrome

Detalles Bibliográficos
Formato:	Texto
Lenguaje:	English
Publicado:	The Company of Biologists Limited 2011
Materias:	In This Issue
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3014333/

Ejemplares similares

Mutations in TMEM231 cause Meckel–Gruber syndrome
por: Shaheen, Ranad, et al.
Publicado: (2013)

Phenotypic variability in Meckel-Gruber syndrome
por: Darouich, S, et al.
Publicado: (2015)

Meckel-Gruber syndrome: Report of two cases
por: Panduranga, C, et al.
Publicado: (2012)

Hydrocephalus in a rat model of Meckel Gruber syndrome with a TMEM67 mutation
por: Shim, Joon W., et al.
Publicado: (2019)

Prenatal phenotype analysis and mutation identification of a fetus with meckel gruber syndrome
por: Moreno-Leon, Laura, et al.
Publicado: (2022)

Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies
por: Szymanska, Katarzyna, et al.
Publicado: (2012)

Structure of the human Meckel-Gruber protein Meckelin
por: Liu, Dongliang, et al.
Publicado: (2021)

Meckel Gruber Syndrome: Report of Two Cases with Review of Literature
por: Myageri, Aneel, et al.
Publicado: (2013)

Meckel Gruber syndrome associated with anencephaly—an unusual reported case
por: Yaqoubi, Houda Nasser Al, et al.
Publicado: (2018)

Meckel-Gruber syndrome: A rare and lethal anomaly with review of literature
por: Parelkar, Sandesh V., et al.
Publicado: (2013)

Meckel–Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances
por: Hartill, Verity, et al.
Publicado: (2017)

Prenatal Versus Postnatal Diagnosis of Meckel–Gruber and Joubert Syndrome in Patients with TMEM67 Mutations
por: Stembalska, Agnieszka, et al.
Publicado: (2021)

Primary cilia defects in the polycystic kidneys from an ovine model of Meckel Gruber syndrome
por: Poole, T, et al.
Publicado: (2012)

Syndrome de Meckel Gruber: à propos d’un cas rare
por: Itchimouh, Sanaa, et al.
Publicado: (2016)

Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping
por: Watson, Christopher M., et al.
Publicado: (2016)

Meckel Gruber Syndrome: Second trimester diagnosis of a case in a non-consanguineous marriage
por: Alam, Areej, et al.
Publicado: (2013)

A case of prenatal diagnosis of meckel-gruber syndrome in one of the dizygotic twin of a naturally conceived pregnancy
por: Rohatgi, Akshay, et al.
Publicado: (2021)

Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome
por: Cui, Cheng, et al.
Publicado: (2011)

Meckel‐gruber syndrome: About an evocative case in French Guiana—When ultrasound is insufficient for accurate diagnosis in a complex syndrome
por: Leneuve‐Dorilas, Malika, et al.
Publicado: (2020)

Preimplantation Genetic Diagnosis for a Chinese Family with Autosomal Recessive Meckel-Gruber Syndrome Type 3 (MKS3)
por: Lu, Yanping, et al.
Publicado: (2013)

A prenatally diagnosed case of Meckel–Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene
por: Ridnõi, Konstantin, et al.
Publicado: (2019)

Gruber on Ear Diseases
Publicado: (1891)

The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway
por: Abdelhamed, Zakia A., et al.
Publicado: (2015)

Meckel-Gruber syndrome patient cells exhibit alterations in cell-substrate interaction, deformation response, and gene expression consistent with defects leading to liver fibrosis
por: Meadows, B, et al.
Publicado: (2015)

INTRAMUSCULAR MARTIN-GRUBER ANASTOMOSIS
por: Caetano, Edie Benedito, et al.
Publicado: (2016)

Gruber’s Reaction in Hog Cholera
por: Dinwiddie, R. R.
Publicado: (1900)

The Meckel-Gruber Syndrome protein TMEM67 (meckelin) regulates basal body planar polarization and non-canonical Wnt signalling via Wnt5a and ROR2
por: Abdelhamed, Z, et al.
Publicado: (2015)

Three Novel Variants of CEP290 and CC2D2DA and a Link Between ZNF77 and SHH Signaling Pathway Are Found in Two Meckel-Gruber Syndrome Fetuses
por: Hong, Zhidan, et al.
Publicado: (2022)

A conversation with Dr. William Gruber, Pfizer Inc.
por: Siranosian, Kathy
Publicado: (2022)

Clinical repercussions of Martin-Gruber anastomosis: anatomical study()
por: Cavalheiro, Cristina Schmitt, et al.
Publicado: (2016)

Validating mouse model of Beckwith-Wiedemann syndrome
Publicado: (2011)

The prevalence of Martin-Gruber anastomosis in Iranian subjects by electrodiagnostic criteria
por: Khosrawi, Saeed, et al.
Publicado: (2015)

Translation of Gruber's Text-Book of Diseases of the Ear—Law and Jewell
Publicado: (1891)

Marinacci anastomosis (reverse Martin-Gruber anastomosis): A case report
por: Chang, Yu-Tai, et al.
Publicado: (2021)

Ulnar Neuropathy Around the Mid-Arm Combined with Martin-Gruber Anastomosis
por: Kim, Bong Joo, et al.
Publicado: (2012)

Mid-palm recording technique, a new electrodiagnostic approach in Martin-Gruber anastomosis
por: Pasutharnchat, Nath, et al.
Publicado: (2020)

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
por: Valente, Enza Maria, et al.
Publicado: (2010)

TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone
por: Roberson, Elle C., et al.
Publicado: (2015)

Investigating a new Noonan syndrome mutation in zebrafish
Publicado: (2011)

A mouse model for neonatal jaundice
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_36edkfuknq5l0jcje9ausnt25d