Results 81 to 90 of about 6,129 (165)

Mutations in the CEP290 gene, encoding a centrosomal protein, cause pleiotropic forms of Joubert Syndrome. [PDF]

, 2006
Joubert syndrome-related disorders (JSRD) are a group of syndromes sharing the neuroradiological features of cerebellar vermis hypoplasia and a peculiar brainstem malformation known as the 'molar tooth sign'. We identified mutations in the CEP290 gene in
VALENTE EM, CASTORI M, SIGNORINI S, BOLTSHAUSER E, LOUIE CM, BRANCATI, Francesco, SILHAVY JL, FAZZI E, BOCCONE L, BERTINI E, KRISHNASWAMI SR, DALLA PICCOLA B, JG GLEESON, LANCASTER MA, AL GAZALI L, BARRANO G, BELLACCHIO E   +16 more
core   +2 more sources

Novel ocular observations in a child with Joubert syndrome type 6 due to pathogenic variant in TMEM67 gene

American Journal of Ophthalmology Case Reports
Purpose: To describe unique ocular features in a child with Joubert syndrome type 6. Observations: A 4-year-old male patient presented with right microphthalmia and non-dilating pupil and left primary position nystagmus. Brain MRI revealed a “molar tooth
Maram EA Abdalla Elsayed, Syed M. Ali, Carly Gardner, Igor Kozak   +3 more
doaj   +1 more source

Een neonaat met ontwikkelingsachterstand [PDF]

, 2011
An 6-month-old boy was admitted to the hospital with hypotonia, hyperpnoeic and apnoeic episodes, and abnormal eye movements. Cranial MRI revealed prominent superior cerebellar peduncles with dysgenesis of the vermis and a deep interpeduncular fossa ...
Majoie, C. B., Bloemenkamp, D. G. M., Poll-The, B. T.   +2 more
core  

Ophthalmıc fındıngs ın Joubert syndrome 25: A case report

Indian Journal of Ophthalmology. Case Reports
Joubert syndrome (JBTS; OMIM PS213300) is a rare autosomal recessive disease classified as a ciliopathy. The diagnosis of JBTS is based on three criteria: a characteristic brain imaging finding known as the “molar tooth sign,” hypotonia, and ...
Tulin Aras Ogreden, Mehmet Büyüktiyaki
doaj   +1 more source

The archaeology of pig domestication and husbandry: approaches and case studies [PDF]

, 2004
The main aim of this thesis is to present the potential of an integrated analysis for the study of past relations between humans and pigs. In particular, the advent of pig domestication and patterns of early husbandry in southern Europe will be discussed
Albarella, Umberto
core  

Could Congenital Ocular Motor Apraxia Be Caused By Celebeller Vermis Dysfunction? [PDF]

, 2008
Congenital ocular motor apraxia (COMA) is thought to be caused by a dysfunction of the frontal eye field. Joubert syndrome is a syndrome which is characterized by COMA, pigmentary retinopathy, global developmental delay and molar tooth sign upon magnetic
Hideki Chuman; Nobuhisa Nao-i
core  

A Turkish Adulthood Joubert Syndrome And Review Of The Literature [PDF]

, 2010
Joubert Syndrome (JS) in adult population is extremely rare. Here, we describe the first adult case seen in the Republic of Turkey. Our patient, a 19-year-old male, was diagnosed primarily by magnetic resonance imaging (MRI) finding of the typical “molar
Kabatas, Serdar, Baykiz, Ali Fuat, Teng, Yang D., Zenger, Mehmet Noyan   +3 more
core   +1 more source

“Molar Tooth Sign” Reveals the Cause of Apnea in a Term Neonate [PDF]

The Journal of Pediatrics, 2016
Salman, Rashid, Marissa, Dean, Fatema, Serajee   +2 more
openaire   +2 more sources

Molar tooth sign (disambiguation)

, 2020
openaire   +1 more source

Midbrain Malformation Presenting With Hypogonadism and Short Stature. [PDF]

JCEM Case Rep
Sai Ramya V, Aleem S, Guddeti A, Hari Kumar KVS.   +3 more
europepmc   +1 more source