Results 141 to 150 of about 1,136,269 (362)

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Manifestation of Congenital CMV-Related Hearing Loss in Cohort Followed at Ear, Nose, and Throat Clinic

Audiology Research
Background/Objectives: Cytomegalovirus (CMV)-associated hearing loss is common in non-genetic congenital hearing loss. Despite this high prevalence, a wide range of clinical characteristics exists, and the pattern of hearing loss remains unknown.
Hajime Koyama, Akinori Kashio, Teru Kamogashira, Aki Sakata, Shinji Urata, Anjin Mori, Kenji Kondo   +6 more
doaj   +1 more source

A Patient with Myeloperoxidase Antineutrophil Cytoplasmic Antibody-Positive Polyangiitis Who Developed Sensorineural Hearing Loss and Scleritis

, 2011
Takafumi Okura, Ken‐ichi Miyoshi, Masanori Jotoku, Daijiro Enomoto, Jun Irita, Tomoaki Nagao, Ryoji Ito, Jitsuo Higaki   +7 more
openalex   +2 more sources

Expanding the Phenotype of TAB2‐Related Syndrome: The First Case With Cleft Palate and Insights Into Palatal Development

American Journal of Medical Genetics Part A, EarlyView.
Alberto De Rosa, Silvia Kalantari, Marta Carboni, Antonella Casella, Elisa Giorgio, Antonia Apicella, Alessia Claudia Codazzi, Fabio Sirchia   +7 more
wiley   +1 more source

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

Presbyacusis A Review [PDF]

Life expectancy of Humans is on the rise. World’s human population is aging rapidly. According to a report of US census Bureau nearly 24% of current world population is above the age of 50. This is a phenomenal number.
Balasubramanian, Thiagarajan
core  

Intratympanic Steroid Treatment for Idiopathic Sudden Sensorineural Hearing Loss after Failure of Intravenous Therapy [PDF]

, 2012
Emanuele Ferri, Antonio Frisina, Anna Chiara Fasson, Enrico Armato, Giacomo Spinato, Maurizio Amadori   +5 more
openalex   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Evaluation of Different Types of Hearing Loss in 6 Years Old Preschool Children of Hamadan Province in1998

پزشکی بالینی ابن سینا, 2002
Any type of hearing loss can create imperfect development of    educational skills in primary school children.           In this descriptive study different types of hearing loss in 22152 six years    old preschool children of Hamadan province were ...
Farhad Farahani
doaj