Results 91 to 100 of about 1,007 (198)

Genetic eye research in Tasmania: a historical overview

, 2011
Although considerable recent work on hereditary eye diseases in Tasmanian families has been published, much of this depended on a century of meticulous pedigree collection by earlier clinical researchers.
David Mackey (14743045)
core  

A case of Ehlers-Danlos syndrome presenting as short stature: a novel mutation in SLC39A13 causing spondylodysplastic Ehlers-Danlos syndrome. [PDF]

Oxf Med Case Reports, 2023
Agrawal P, Kaur H, Kondekar A, Rathi S.
europepmc   +1 more source

MMMM syndrome (macrocephaly, megalocornea, motor and mental retardation) and refractory epilepsy Síndrome MMMM (macrocefalia, megalocórnea, retardo mental e motor) e epilepsia refratária

Arquivos de Neuro-Psiquiatria, 2010
Adriana Marques de Mattos, Aluisio Dias Marques, Carla Patrícia Oliveira Parrela, Josephine Marie da Cunha Fish, Osvaldo Alfonso Pinto Artigalas, Josiane Ranzan, Maria Isabel Bragatti Winkcler, Lygia Ohlweiler, Rudimar dos Santos Riesgo   +8 more
doaj   +1 more source

De Morsier Syndrome Associated With Megalocornea: Impact of Hormone Replacement Therapy on the Resolution of Neonatal Cholestasis. [PDF]

Cureus
Nicolas M, Houda K, Atrassi M, Bensabbahia D.   +3 more
europepmc   +1 more source

Isolated congenital megalocornea [PDF]

, 2020
openaire   +1 more source

A novel frameshift insertion variant in the TCOF1 gene associated with Treacher Collins syndrome. [PDF]

Indian J Ophthalmol
Premkumar S, Baskaran S, Muralikrishnan N, Sundar SS, Periasamy S, Puthuran GV.   +5 more
europepmc   +1 more source

Spontaneously Arrested Bilateral Primary Congenital Glaucoma: A Case Report From Ethiopia. [PDF]

Ethiop J Health Sci, 2022
Alayu KS, Shibeshi MA, Alemu AM.
europepmc   +1 more source

A Note on Two Cases of Megalocornea [PDF]

British Journal of Ophthalmology, 1942
openaire   +2 more sources

A novel mutation of laminin β-2 gene in Pierson syndrome manifested with nephrotic syndrome in the early neonatal period

, 2013
Pierson syndrome is a rare autosomal recessive disorder which is mainly characterized by congenital nephrotic syndrome (CNS), diffuse mesangial sclerosis (DMS) and distinct ocular abnormalities, including microcoria.
Okumuş, N., Kundak, A., Ipek, M.S., Saygili-Karagöl, B., Dilli, D., Renda, R., Aydoǧ, Ö., Özaltın, Fatih, Zenciroǧlu, A., Beken, Serdar, Aydın, Banu, Hoşaǧasi, N.   +11 more
core  

A Rare Case of Childhood Glaucoma Resulting from Anterior Segment Dysgenesis Associated with a Homozygous Mutation in the <i>CPAMD8</i> Gene. [PDF]

Genes (Basel)
Veleva-Krasteva N, Genov K, Kamenarova K, Kaneva Y, Mihova K, Kostova S, Kaneva R, Oscar A.   +7 more
europepmc   +1 more source