Results 11 to 20 of about 433 (176)

Ophthalmological Manifestations of Oculocutaneous and Ocular Albinism: Current Perspectives [PDF]

, 2022
Albinism describes a heterogeneous group of genetically determined disorders characterized by disrupted synthesis of melanin and a range of developmental ocular abnormalities.
Deepika, CP, Jalali, S, Neveu, MM, Padhi, TR, Padhy, SK, Ramamurthy, S, Robson, AG, Takkar, B   +7 more
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Atg7-Mediated Autophagy Is Involved in the Neural Crest Cell Generation in Chick Embryo [PDF]

, 2018
Autophagy plays a very important role in numerous physiological and pathological events. However, it still remains unclear whether Atg7-induced autophagy is involved in the regulation of neural crest cell production.
A Kuma, AJ Chalpe, AM Lacosta, Andrea Münsterberg, B Levine, B Ravikumar, BK Hall, C Gao, C Zhuo, Chang Liang, D Henrique, DR Cordero, E Coucouvanis, En-ni Chen, G Juhasz, G Wang, G Wang, Guang Wang, IH Lee, J Cayuso, J Jang, J McCredie, JE Simkin, Jianxin Liang, L Hari, L Lamalice, L Pinsky, Lin-rui Gao, Liu Cao, M Komatsu, MA Mellen, Manli Chuai, ML Basch, MR Aburto, OO Oyedele, PJ Fraker, Q Yue, RA Schneider, RC Russell, S Somi, SC Chapman, SV Hegarty, TC Carter, TF Gale, WH Lu, X Qu, X Wu, X Yang, X Yang, Xuesong Yang, XY Wang, Y Liu, Yongping Bao, Z Jia   +53 more
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Study of the HuP2 Gene in Patients with Waardenburg Syndrome [PDF]

, 1994
The HuP2 gene, which is human homologue of the mouse Pax3 gene, was analyzed in two individuals with and one without Waardenburg syndrome type I (WSI) in a three gneration family. We mapped part of exon 5 of the HuP2 gene on the human chromosome 2 by the
14458, 14459, 14460, 14461, ASAKA, Akio, IIJIMA, Sumio, SMITH, Moyra, YAMAGATA, Zentaro   +7 more
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Waardenburg syndrome

Indian Journal of Dermatology, Venereology and Leprology, 2006
Waardenburg syndrome is a rare inherited and genetically heterogenous disorder of neural crest cell development. Four distinct subtypes showing marked interfamilial and intrafamilial variability have been described. We report a girl showing constellation of congenital hearing impairment with 110 dB and 105 dB loss in right and left ear respectively ...
Sunita, Tagra, Amrita Kaur, Talwar, Rattan Lal Singh, Walia, Puneet, Sidhu   +3 more
openaire   +3 more sources

Waardenburg's syndrome: disabilities and physical features, association with academic achievement and social relations [PDF]

, 2012
Introducción: el síndrome de Waardenburg es una entidad infrecuente, que cursa con cierto grado de discapacidad cuando aparece la hipoacusia neurosensorial y la discapacidad visual; se ha detectado en el municipio Sandino en Pinar del Río, una familia ...
Castro Pérez, Fidel, González Serrano, Heidy, Iviricu Tielves, Rolando Jesús, Sanabria Negrín, José Guillermo Guillermo, Torres Capote, Marisela   +4 more
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Factors causing severe deafness in childhood [PDF]

, 1965
No abstract ...
W. Hatchuel
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Genetische Ursachen von Neuralrohrdefekten beim Menschen - Assoziationsstudien und Kandidatengenanalysen [PDF]

, 2003
Neuralrohrdefekte (NRD) sind häufig auftretende angeborene Fehlbildungen des Zentralen Nervensystems, über deren Ursachen bis heute nur wenig bekannt ist.
Felder, Bärbel, Felder, Bärbel
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Inherited causes of combined vision and hearing loss: clinical features and molecular genetics [PDF]

, 2022
Combined vision and hearing loss, also known as dual sensory impairment, can occur in several genetic conditions, including ciliopathies such as Usher and Bardet-Biedl syndrome, mitochondrial DNA disorders and systemic diseases, such as CHARGE, Stickler,
Arram, Elizabeth, Georgiou, Michalis, Guimaraes, Thales Antonio Cabral de, Michaelides, Michel, Shakarchi, Ahmed F   +4 more
core  

Síndrome de Waardenburg tipo 1 en gemelos monocigóticos y su familia [PDF]

, 2016
El síndrome de Waardenburg (SW) es un trastorno genético poco frecuente con una incidencia de 1 por 40000 habitantes. Es originado por mutaciones en múltiples genes como PAX3, MITF, SNAI2 y SOX10; estas alteraciones genéticas ocasionan anomalías en el ...
Duque, Gustavo Andrés, Ramírez Cheyne, Julián, Saldarriaga-Gil, Wilmar   +2 more
core   +3 more sources

Biometric Indices and Their Relation with Age, Sex and Ethnicity [PDF]

, 2018
Objective: The aim of the present study was to evaluate the association of biometric indices with age, gender and ethnicity.Patients and Methods:  Three hundred and seventy patients entered the study from Basir Eye Clinic refractive assessment clinic ...
Gohari, Mohsen, Moradi, Ali, Shojaei, Ahmad   +2 more
core   +2 more sources