Results 71 to 80 of about 256,394 (202)

Case Report: First Report of Mutation in Col 11A2 Gene in an Iranian Family with Autosomal Rrecessive Non-Syndromic Hearing Loss

Journal of Rehabilitation, 2003
Hereditary Hearing loss (HHL) affects one in 2000 netborns and more than 50% of these cases, the loss has a genetic basis. About 70% of HHL is non-syndromic with autosomal recessive mode of inheritance accounting for ~85% of the genetic load and more ...
Kimia Kahrizi, Ahmad Daneshi, Yasser Riaz-el Hosseini, Carla Nishimora, Richard Smith, Hossein Najm-Abadi   +5 more
doaj  

From Interferon Signature to the Clinical Landscape: Type I Interferonopathies

Arthritis &Rheumatology, EarlyView.
Objective TypeI interferonopathies are heterogeneous diseases driven by dysregulated type I interferon (IFN‐I) signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. The aim of this study was to characterize the clinical, immunologic, genetic, molecular profiles of patients with suspected ...
Ismail Yaz, Seza Ozen, Hacer Neslihan Bildik, Canberk Ipsir, Dilara Unal, Saliha Esenboga, Begum Cicek, Mehmet Emin Seker, Fatima Aerts‐Kaya, Seher Sener, Mehmet Orhan Erkan, Hanife Avci, Deniz Cagdas, Ilhan Tezcan   +13 more
wiley   +1 more source

Diaphragmatic hernia-exomphalos-hypertelorism syndrome: a new case and further evidence of autosomal recessive inheritance.

, 1997
We describe a male patient with wide anterior fontanel and metopic suture, hypertelorism, down slanting palpebral fissures, bilateral iris coloboma, omphalocele, and bilateral absence of the diaphragm with herniation of abdominal organs causing pulmonary
McDonald-McGinn, D M, Donnai, D, Zackai, E H, Gripp, K W, Guttenberg, M, Clericuzio, C L   +5 more
core   +1 more source

The molecular genetic analysis of the expanding pachyonychia congenita case collection [PDF]

, 2014
BackgroundPachyonychia congenita (PC) is a rare autosomal dominant keratinizing disorder characterized by severe, painful, palmoplantar keratoderma (PPK) and nail dystrophy, often accompanied by oral leukokeratosis, cysts and follicular keratosis.
Wilson, N. J., Shepherd, A. A., Hansen, C. D., Sprecher, E., Milstone, L. M., McLean, W. H. I., Schwartz, M. E., Al-Asadi, E., Smith, F. J. D., O'Toole, E.   +9 more
core   +1 more source

Genetic and population analyses implicate thyroid‐related regulation of RNF144B in chondrocalcinosis

Arthritis &Rheumatology, Accepted Article.
Objectives Chondrocalcinosis, characterized by calcium crystal deposition within articular cartilage, affects 5–15% of the general population and has recently been identified as an osteoarthritis risk factor. However, Its biological pathways remain unclear.
Yahong Wu, Yanning Xu, Paul C. Okoro, Sirine Saafi, Jard de Vries, Xiaoyi Qi, Edwin H.G. Oei, Sita Bierma‐Zeinstra, Trudy Voortman, David Felson, Joyce BJ van Meurs, Layal Chaker, J. Mark Wilkinson, Michelle S. Yau, Jessica Bertrand, Cindy G. Boer   +15 more
wiley   +1 more source

Alkaptonuria

Indian Journal of Dermatology, 2011
A case of alkaptonuria, a rare disorder with autosomal recessive inheritance, is reported here. The patient had palmar pigmentation in addition to the usual features of alkaptonuria.
G K Tharini, Vidhya Ravindran, N Hema, D Prabhavathy, B Parveen   +4 more
doaj   +1 more source

Secretopathies emerge as a new class of neurocristopathies

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira, Cassandra Millet‐Boureima, Joshua A. Moore, Loydie A. Jerome‐Majewska   +3 more
wiley   +1 more source

Genetic heterogeneity of Oguchi′s disease

Indian Journal of Ophthalmology, 1990
An analysis of the cases reported in Punjab, India, indicates the presence of genetic heterogeneity of Oguchi′s disease, for which autosomal recessive inheritance has been documented earlier.
Singh Jai
doaj  

Genetic analysis of limb girdle muscular dystrophy and Miyoshi myopathy [PDF]

, 2003
The autosomal recessive muscular dystrophies encompass limb girdle muscular dystrophy (LGMD) and Miyoshi myopathy (MM), which can show clinical and genetic overlap.
Summerill, Gillian
core  

HDR: a statistical two-step approach successfully identifies disease genes in autosomal recessive families

, 2016
In the search for sequence variants underlying disease, commonly applied filtering steps usually result in a number of candidate variants that cannot further be narrowed down.
Nakaya, Akihiro, Mark Lathrop, Ohtake, Akira, Akihiro Nakaya, Yasushi Sakata, Kohda, Masakazu, Yasushi Okazaki, Akira Ohtake, Murayama, Kei, Okazaki, Yasushi, Lathrop, Mark, Imai, Atsuko, Ott, Jurg, Atsuko Imai, Kei Murayama, Masakazu Kohda, Jurg Ott, Sakata, Yasushi   +17 more
core   +1 more source