Results 161 to 170 of about 3,111 (197)

Coexistence of congenital lacrimal gland agenesis and congenital aniridia: Case report. [PDF]

Am J Ophthalmol Case Rep
Alzaben KA, Alshuhayb BS, Alsulaiman SM, Alenazi M, Alkhayyal MA.   +4 more
europepmc   +1 more source

Analysis Methods for Diagnosing Rare Neurodevelopmental Diseases with Episignatures: A Systematic Review of the Literature. [PDF]

Biomedicines
Alegret-García A, Cáceres A, Sevilla-Porras M, Pérez-Jurado LA, González JR.   +4 more
europepmc   +1 more source

眼科学 [PDF]

, 2002
北川 清隆, 岩佐 芳夫, 張 学云, 早坂 依里子, 早坂 征次, 松本 真幸, 林 由美子, 柳沢 秀一郎, 渡辺 一彦, 遠藤 好美, 遠藤 眞知, 長木 康典, 門井 千春   +12 more
core   +1 more source

Long term risk of recurrence of ptosis repair: implications for surgical counseling and follow-up. [PDF]

Front Ophthalmol (Lausanne)
Cohen D, Passaro ML, Grachova E, Riccardo A, Iuliano A, Lanni V, Matarazzo F, D'Aponte A, Costagliola C, Strianese D.   +9 more
europepmc   +1 more source

Molecular and clinical aspects of histone-related disorders. [PDF]

Hum Genomics
Al Ojaimi M, Banimortada BJ, Alragheb A, Hajir RS, Alves C, Walid D, Raza A, El-Hattab AW.   +7 more
europepmc   +1 more source

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“Blepharophimosis‐plus” syndromes: Frequency of systemic genetic disorders that also include blepharophimosis

Clinical & Experimental Ophthalmology, 2021
AbstractBackgroundTo determine the frequency of isolated blepharophimosis‐ptosis‐epicanthus inversus syndrome (BPES) versus systemic genetic disorders in patients presenting with blepharophimosis.MethodsRetrospective clinical records review. The records of all patients with blepharophimosis seen in the Division of Ophthalmology at the Children's ...
Daphna Landau Prat, Brian J. Nguyen, Alanna Strong, William R. Katowitz, James A. Katowitz   +4 more
openaire   +2 more sources

A case of blepharophimosis: Freeman Sheldon syndrome

Ophthalmic Genetics, 2021
Important implications exist for ophthalmologists when considering possible early surgical intervention for potential amblyogenic anatomical abnormalities. The authors discuss the risks and benefits from an ophthalmological perspective of different interventions and review the genetic testing that confirmed the diagnosis.The authors describe the ...
Scott Bowman, Gwen Noble, Bahram Rahmani, Marilyn Mets, Hantamalala Ralay Ranaivo, Valerie Castelluccio   +5 more
openaire   +2 more sources

Blepharophimosis Syndrome With Absent Tear Production

Ophthalmic Plastic & Reconstructive Surgery, 2015
The purpose of this report was to present a case of congenital alacrima in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). A 9-month-old boy presented with characteristic clinical findings of BPES confirmed by genetic testing. On further history taking and evaluation, the patient was noted to have no tear production, despite
Jacqueline K, Ng, Ann U, Stout, Aazy A, Aaby, John D, Ng   +3 more
openaire   +2 more sources

Blepharophimosis–ptosis–epicanthus inversus syndrome (BPES)

International Journal of Dermatology, 2007
Blepharophimosis–ptosis–epicanthus inversus syndrome (BPES) is a rare inherited condition that includes characteristic eyelid malformations and sometimes reduced fertility in females. Genetic studies have implicated mutations in the forkhead transcription factor FOXL2 as responsible for BPES.We report a female and her father with BPES type I, who ...
Alvaro, Leon-Mateos, Manuel, Ginarte, Clara, Ruiz-Ponte, Angel, Carracedo, Jaime, Toribio   +4 more
openaire   +2 more sources