Results 21 to 30 of about 269,697 (252)

IDENTIFICATION OF DISEASE GENES FOR RARE AUTOSOMAL RECESSIVE EPILEPTIC SYNDROMES BY HOMOZYGOSITY MAPPING [PDF]

, 2011
Introduction: The genetics of the most common neurological disorders, including epilepsy, with mendelian inheritance has been dissected in the last twenty years. However the genetic etiology of some rare epileptic conditions is still unknown.
Coppola, Antonietta
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Protein C Deficiency Caused by a Novel Mutation in the PROC Gene in an Infant with Delayed Onset Purpura Fulminans

Case Reports in Dermatological Medicine, 2017
Protein C is an anticoagulant that is encoded by the PROC gene. Protein C deficiency (PCD) is inherited in an autosomal dominant or recessive pattern.
Mariam S. Al Harbi, Ayman W. El-Hattab
doaj   +1 more source

MutLα heterodimers modify the molecular phenotype of Friedreich ataxia [PDF]

, 2014
This article has been made available through the Brunel Open Access Publishing Fund.Background: Friedreich ataxia (FRDA), the most common autosomal recessive ataxia disorder, is caused by a dynamic GAA repeat expansion mutation within intron 1 of FXN ...
Anjomani-Virmouni, S, Ezzatizadeh, V, Madhavi Sandi, Al-Mahdawi, S, Al-Mahdawi Sahar, Anjomani-Virmouni Sara, Vahid Ezzatizadeh, Sara Anjomani-Virmouni, Sandi, C, Sandi Madhavi, Sandi, M, Pook, MA, Sahar Al-Mahdawi, Chiranjeevi Sandi, Sandi Chiranjeevi, Ezzatizadeh Vahid, Pook Mark A., Mark A Pook   +17 more
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Progeria in siblings: A rare case report

Indian Journal of Dermatology, 2011
Progeria, also known as Hutchinson-Gilford syndrome, is an extremely rare, severe genetic condition wherein symptoms resembling aspects of aging are manifested at an early age. It is an autosomal dominant disorder.
R Sowmiya, D Prabhavathy, S Jayakumar
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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
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Genetic screening for SACS, ABHD12 and PRICKLE1 mutations in ataxia patients from Southern Italy [PDF]

, 2011
Genetic screening for SACS, ABHD12 and PRICKLE1 mutations in ataxia patients from Southern Italy. INTRODUCTION Autosomal recessive (AR) spinocerebellar ataxias constitute a heterogeneous group of neurodegenerative disorders mainly characterized by ...
De Leva, Maria Fulvia
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Pycnodysostosis- A Rare Diagnosis Not to Miss

International Journal of Medical Students, 2022
Key Words: Pycnodysostosis, fracture, autosomal recessive Background Pycnodysostosis derived from the Greek words pycnos-density, dys-defect, ostosis-bone is a rare inherited disorder of the bone with an incidence of 1.7 per million births 1.
Montasir Ahmed A, Swapna R Mondal, Mustaque Ahmed A., Bipin K Shah, Prakash Oli, P. Kuwar Chhetri   +5 more
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Cooperative Genome-Wide Analysis Shows Increased Homozygosity in Early Onset Parkinson's Disease [PDF]

, 2012
Parkinson's disease (PD) occurs in both familial and sporadic forms, and both monogenic and complex genetic factors have been identified. Early onset PD (EOPD) is particularly associated with autosomal recessive (AR) mutations, and three genes, PARK2 ...
Heutink, Peter, Nicholas W. Wood (49276), Kilarski, Laura, Simon-Sanchez, J, Schulte, C., Heutink, P., John Hardy (23295), Morris, HR, Hardy, John, Andrew B. Singleton (178128), Laura L Kilarski, Conso, IPDG, Holmans, Peter, Holmans, P., Laura L. Kilarski (178120), John Hardy, Kilarski, Laura L., Hardy, J, Javier Simón-Sánchez (178117), Maria Martinez (87313), Schulte, Claudia, Singleton, Andrew B., Simon-Sanchez, J., Claudia Schulte, Hardy, J., International Parkinson's Disease Genomics Consortium, Kilarski, LL, Maria Martinez, Morris, H.R., Thomas Gasser, Andrew B Singleton, Nigel Williams (178133), Brown, Matthew, Brice, A, Thomas Gasser (33499), Peter Heutink, Williams, Nigel, Morris, Huw Rees, Holmans, P, Alexis Brice, Singleton, AB, Martinez, M., Kilarski, L.L., Gasser, T., Martinez, M, Gasser, T, Singleton, A.B., Claudia Schulte (125865), Nalls, MA, Holmans, Peter Alan, Nalls, M.A., Williams, N., Peter Holmans (28936), Javier Simón-Sánchez, Wood, NW, Nalls, Michael A., Schulte, C, Peter Holmans, Alexis Brice (41775), Peter Heutink (39587), Heutink, P, Wood, Nicholas W., Morris, Huw R., Williams, Nigel Melville, Brice, Alexis, Nicholas W Wood, Simon-Sanchez, Javier, Nigel Williams, Huw R. Morris (139451), Brice, A., Martinez, Maria, Michael A Nalls, Williams, N, Michael A. Nalls (113680), Wood, N.W., Wellcome Trust Case Control Consortium, Consor, WTCC, Gasser, Thomas, Huw R Morris   +78 more
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Hemangioma: A rare association of Escobar (Multiple pterygium) syndrome

Medicine Science, 2021
Multiple Pterygium syndrome (MPS) is characterized by antecubital, popliteal pterygium, short stature, dysmorphic face, kyphoscoliosis, club foot, genital and cardiac malformations.
Emine Tekin, Emine Goktas, Huri Sema Aymelek, Sultan Aydin Koker, Seyma Memur   +4 more
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Urinary proteomic biomarkers for diagnosis and risk stratification of autosomal dominant polycystic kidney disease: a multicentric study [PDF]

, 2013
Treatment options for autosomal dominant polycystic kidney disease (ADPKD) will likely become available in the near future, hence reliable diagnostic and prognostic biomarkers for the disease are strongly needed.
Torres, Vicente E., Poster, D., Andreas D. Kistler, Fabienne Krauer, Kistler Andreas D., Grantham, J.J., Serra, AL, Grantham, Jared J, James E. Bost, Mischak Harald, Bost, J.E., Bost James E., Arlene B Chapman, Chapman, AB, Mrug, M., Wüthrich Rudolf P., Grantham Jared J., Justyna Siwy (103595), Andreas L. Serra (103592), Arlene B. Chapman (103480), Diane Poster (36083), Justyna Siwy, Poster Diane, Bost, James E., Rudolf P. Wüthrich (103623), Krauer, F., Torres, V.E., Mischak, Harald, Serra Andreas L., Wüthrich, Rudolf P, Wüthrich, RP, Kyongtae T. Bae, Bae, KT, James E. Bost (103618), Kistler, AD, Poster, Diane, Siwy, J., Michal Mrug (103606), Grantham, JJ, Bae, Kyongtae T., Serra, Andreas L, Grantham, Jared J., Vicente E. Torres, Torres Vicente E., Mullen, W., Chapman, Arlene B., Bae, Kyongtae T, Fabienne Krauer (103598), Bae, K.T., Bost, James E, Chapman Arlene B., Jared J Grantham, Mullen, W, Vicente E. Torres (103602), Mullen, William, Mrug, M, Andreas D Kistler, Kyongtae T Bae, Siwy, Justyna, Krauer, F, Mischak, H., Mrug, Michal, Wüthrich, Rudolf P., Torres, Vicente E, Andreas L Serra, Harald Mischak (103627), Jared J. Grantham (103610), Krauer, Fabienne, Bost, JE, Rudolf P. Wüthrich, Mrug Michal, Diane Poster, Wuethrich, Rudolf P., Serra, Andreas L., Serra, A.L., William Mullen (103621), William Mullen, Chapman, A.B., Vicente E Torres, Chapman, Arlene B, James E Bost, Mischak, H, Jared J. Grantham, Siwy Justyna, Andreas L. Serra, Kyongtae T. Bae (103614), Wüthrich, R.P., Michal Mrug, Kistler, Andreas D., Poster, D, Krauer Fabienne, Siwy, J, Mullen William, Kistler, A.D., Harald Mischak, Arlene B. Chapman, Torres, VE, Andreas D. Kistler (103588), Bae Kyongtae T., Bae, Kyong Tae, Rudolf P Wüthrich, Kistler, Andreas D   +101 more
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