Results 81 to 90 of about 1,362 (148)

Optic Nerve Magnetic Resonance Imaging Characteristics in Inherited Optic Neuropathies (.pdf)

, 2016
Inherited optic neuropathies include dominant optic atrophy (DOA), Leber\u27s hereditary optic neuropathy (LHON), and Wolfram syndrome (DIDMOAD). DOA is the most common of these, and mutations in OPA1 account for 40-60% of DOA cases.
Eric D. Gaier; Katherine Boudreault; Isao Nakata; Dean M. Cestari; Janey L. Wiggs; Paul Caruso; Joseph F. Rizzo III
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Endocrine and metabolic aspects of the Wolfram syndrome

, 2011
Wolfram syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness), is a neurodegenerative disease with autosomal recessive inheritance with incomplete penetrance.
Diamanti-Kandarakis, Evanthia, Livadas, Sarantis, Boutzios, Georgios, Economou, Frangiskos, Opie, Nicole, Marinakis, Evangelos   +5 more
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Clinical case of incomplete form of Wolfram Syndrome

, 2019
Синдром Вольфрама (WS, DIDMOAD-синдром) – це автосомно-рецесивне дегенеративне захворювання із прогресуючим перебігом. Повний синдром включає чотири складові: цукровий діабет 1 типу, центральний нецукровий діабет, атрофію зорових нервів і нейросенсорну ...
Костів, М.І., Ризничук, Мар'яна Олександрівна, Дмитрук, В.П., Крецу, Т.М., Ryznychuk, M.A., Kostiv, M.I., Kretsu, T.N., Пішак, Василь Павлович, Pishak, V.P., Dmitruk, V.P.   +9 more
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Two Cases of Wolfram-Related Optic Atrophy: A New Mutation and A Misdiagnosis of Normal-tension Glaucoma

, 2017
The phenotypic spectrum of WFS1-related Disorders; spanning from Wolfram syndrome (WFS) to WFS1-related low-frequency hearing loss, are linked to mutations in the WFS1 gene.
Victoria S. Pelak, MD
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Multifaceted diabetes: а clinical case [PDF]

DIDMOAD syndrome (Wolfram syndrome type 1 is an orphan multisystem mitochondrial dysfunction, the name of which is an acronym for the combination of the following nosologies: Diabetes Insipidus (DI), Diabetes Mellitus (DM), Optic Atrophy (OA), Deafness ...
Tokareva, N.М., Yenhovatova, V.А., Abaturov, O.E., Nikulina, A.O.   +3 more
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[From gene to disease; non-syndromic, autosomal dominant, low-frequency sensorineural hearing loss (DFNA6/14)]

, 2003
Contains fulltext : 144271.pdf (Publisher’s version ) (Open Access)DFNA6/-14 is a nonsyndromic, autosomal dominant form of hearing impairment that is characterised by low-frequency sensorineural hearing loss, which in some cases is ...
Huygen, P.L.M., Cremers, C.W.R.J., Camp, G. van, Cryns, K., Pennings, R.J.E.   +4 more
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Wolfram syndrome 2: a novel CISD2 mutation identified in Italian siblings.

, 2014
Wolfram syndrome, also referred to as Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness (DIDMOAD), is a rare autosomal recessive neurodegenerative disorder.
Genovese S., NOVARA, FRANCESCA, Rondinelli M, CALCATERRA, VALERIA, ZUFFARDI, ORSETTA   +4 more
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Neue Missense-Mutation bei sensorischer Tiefton-Schallempfindungsschwerhörigkeit (DFNA 6/14)

, 2003
Wir stellen die audiometrischen und molekulargenetischen Befunde einer Familie mit DFNA 6/14 vor. Bei der Erkrankung handelt es sich um eine mittelgradige sensorische Tief-Mitteltonschwerhörigkeit, die autosomal dominant vererbt wird.
Marquez-Klaka, B, Kunz, J, Berger, R, Uebe, S, Gross, M, Volz-Peters, A, Rausch, P   +6 more
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Walsh & Hoyt: Progressive Optic Atrophy with Juvenile Diabetes Mellitus, Diabetes Insipidus, and Hearing Loss (DIDMOAD/Wolfram\u27s Syndrome)

, 2005
In 1938, Wolfram described a family in which four of eight siblings had diabetes mellitus and bilateral optic atrophy. Three of the four affected siblings subsequently developed neurosensory hearing loss and two developed neurogenic bladder.
Nancy J. Newman, MD
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Complete Paternal Uniparental Isodisomy of Chromosome 4 in a Patient with Isolated Optic Neuropathy

, 2020
Wolfram syndrome (WS) is a rare progressive neurodegenerative disease with optic atrophy being one of the defining clinical features. This syndrome is also known by its historical acronym of DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy ...
Neringa Jurkute; Gavin Arno; Andrew Webster; Patrick Yu-Wai-Man
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