Results 191 to 200 of about 3,786,126 (364)

Skewed X-Chromosome Inactivation Is a Common Feature of X-Linked Mental Retardation Disorders [PDF]

, 2002
Robert M. Plenge, Roger Stevenson, Herbert A. Lubs, Charles E. Schwartz, Huntington F. Willard   +4 more
openalex   +1 more source

Long‐Read Whole‐Genome Sequencing Uncovers a Deletion Upstream to HOXD13 Causing Synpolydactyly

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Synpolydactyly (SPD) is a heterogeneous distal‐limb malformation syndrome, characterized by webbing and duplication of adjacent digits. SPD1, the most common type, is attributed to disease‐causing variants in HOXD13, a transcription factor in the HOXD cluster that is essential for limb development. Here, we present a challenging exome‐negative
Jonathan Rips, Rivka Birnbaum, Chaim Jalas, Ayala Frumkin, Shamir Zenvirt, Julia Rachanaev, Avraham Shaag, Tamar Harel, Orly Elpeleg, Hagar Mor‐Shaked   +9 more
wiley   +1 more source

Molecular characterization of imprinting disorders: Beckwith-Wiedemann, Silver-Russell, and Prader-Willi syndromes in Egyptian patients. [PDF]

BMC Pediatr
Mohamed AM, Eid O, Farid M, Ashaat E, Abdel-Salam GMH, El-Bassyouni HT, Essa M, Mahrous R, Erian PSF, Refaat KM, Fayez A, Zaki M.   +11 more
europepmc   +1 more source

Chromosomal fragility and human genetic disorders

, 2000
Sujatha Baskaran, Vani Brahmachari
openalex   +2 more sources

Phenotypic Homogeneity Provides Increased Support for Linkage on Chromosome 2 in Autistic Disorder [PDF]

, 2002
Yujun Shao, Kimberly L. Raiford, Chantelle M. Wolpert, Heidi Cope, Sarah A. Ravan, Allison E. Ashley‐Koch, Ruth K. Abramson, Harry H. Wright, Robert DeLong, John R. Gilbert, Michael L. Cuccaro, Margaret A. Pericak‐Vance   +11 more
openalex   +1 more source

A major role for common genetic variation in anxiety disorders

Molecular Psychiatry, 2019
K. Purves, J. Coleman, S. Meier, C. Rayner, K. Davis, R. Cheesman, Marie Bækvad-Hansen, A. Børglum, Shing Wan Cho, J. Deckert, Héléna A. Gaspar, J. Bybjerg-Grauholm, J. Hettema, M. Hotopf, D. Hougaard, Christopher Hübel, C. Kan, A. McIntosh, O. Mors, P. Mortensen, M. Nordentoft, T. Werge, K. Nicodemus, M. Mattheisen, G. Breen, T. Eley   +25 more
semanticscholar   +1 more source

A Splice‐Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in GNAS can cause a wide range of diseases including pseudohypoparathyroidism, pseudopseudohypoparathyroidism, McCune‐Albright syndrome, among others. The specific phenotypic features that may be seen are influenced by the variant type and location in the gene, whether it causes loss or gain of function, and whether it is ...
Brandon S. Stone, Swetha Ramadesikan, Regan McGinley, Scott E. Hickey, Leeran B. Dublin‐Ryan, Steven I. Estes, Victoria A. Elliott, Benjamin Karabasz, Jesse M. Hunter, Bimal P. Chaudhari, Richard K. Wilson, Daniel C. Koboldt   +11 more
wiley   +1 more source

Six-year experience of preimplantation genetic diagnosis (PGD) for single gene disorders and chromosomal abnormalities at CHA Institute [PDF]

, 2002
T.J. Kim, K.Y. Cha
openalex   +1 more source

Association Between Feeding Problems and Gastrointestinal Symptoms, Language, and Developmental History in Adults With Angelman Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Angelman syndrome (AS) is a neurodevelopmental disorder characterized by severe developmental delays, typical facial features, ataxia, seizures, speech impairments, sleeping difficulties, and a happy demeanor. Caregivers of individuals with AS often report feeding problems, with difficulties including issues with obesity, failure to gain ...
Ciara Cassidy, Arlene Mannion, Sally Whelan, Megan Tones, Helen Heussler, Matthew Bellgard, Geraldine Leader   +6 more
wiley   +1 more source

Xist condensates: perspectives for therapeutic intervention. [PDF]

Genome Biol
Perotti I, Broglia L, Tartaglia GG, Cerase A.   +3 more
europepmc   +1 more source