Results 41 to 50 of about 15,172 (214)

Mapping the Shh long-range regulatory domain [PDF]

, 2014
Coordinated gene expression controlled by long-distance enhancers is orchestrated by DNA regulatory sequences involving transcription factors and layers of control mechanisms.
Amano, Belloni, Bickmore, Chuong, Davis, Dixon, Echelard, Epstein, Hecksher-Sorensen, Jeong, Jeong, Klopocki, Kokubu, Lettice, Lettice, Lettice, Lettice, Lettice, Lettice, Liu, Marinić, Mates, Montavon, Nagy, Niedermaier, Osoegawa, Paek, Riddle, Ruf, Sagai, Sagai, Sagai, Sharpe, Sharpe, Shen, Smallwood, Spitz, Sun, Symmons, Symmons, The ENCODE Consortium Project, Tsukiji   +41 more
core   +2 more sources

Prenatal diagnosis of trisomy 6q25.3-qter and monosomy 10q26.12-qter by array CGH in a fetus with an apparently normal karyotype. [PDF]

, 2014
We present the prenatal case of a 12.5-Mb duplication involving 6q25-qter and a 12.2-Mb deletion encompassing 10q26-qter diagnosed by aCGH, while conventional karyotype showed normal results.
Marinescu, Ponnila S, Parks, W Tony, Rajkovic, Aleksandar, Saller, Devereux N, Yatsenko, Svetlana A   +4 more
core   +1 more source

Fraser Syndrome: case report in lacrimal system [PDF]

, 2014
Fraser syndrome is a systemic condition characterized by cryptophthalmos, syndactyly and abnormal genitalia, which may be associated with urinary tract, ear, nose, larynx and skeletal abnormalities.
Briceño, César Augusto, Gonçalves, Eliana Domingues, Jablinski, Cláudio Enrique Cuadros, Lorena, Silvia Helena Tavares, Machado, Marco Antonio de Campos, Silva, João Amaro Ferrari   +5 more
core   +3 more sources

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Congenital syndactyly in cattle: four novel mutations in the low density lipoprotein receptor-related protein 4 gene (LRP4)

BMC Genetics, 2007
Background Isolated syndactyly in cattle, also known as mulefoot, is inherited as an autosomal recessive trait with variable penetrance in different cattle breeds.
Höltershinken Martin, Distl Ottmar, Tammen Imke, Harlizius Barbara, Leeb Tosso, Drögemüller Cord, Gentile Arcangelo, Duchesne Amandine, Eggen André   +8 more
doaj   +1 more source

Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi, Bhavi P. Modi, Phillip A. Richmond, Massimo Mangino, Loryn Byres, Cassie McDonald, Joshua Dalmann, Simran Samra, Kate L. Del Bel, Anna Lehman, Jessica L. Zambonin, Stuart E. Turvey   +11 more
wiley   +1 more source

Evaluation of hexagonal flap for Syndactyly repair

Zanco Journal of Medical Sciences
Background and objective: Syndactyly is among the most commonly treated hand anomalies by plastic surgeons. Since the 1800s,over 46 corrective procedures have been described.
Lavin Jawher Putris, Jalal Hamasalih Fattah   +1 more
doaj   +1 more source

Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report [PDF]

, 2012
Background Brachydactyly type E (BDE; MIM#113300) is characterized by shortening of the metacarpal, metatarsal, and often phalangeal bones, and predominantly affects postaxial ray(s) of the limb.
Aleksander Jamsheer, Anna Sowińska, Leszek Kaczmarek, Anna Latos-Bieleńska   +3 more
core   +2 more sources

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

Epidemiology of congenital polydactyly and syndactyly in Hunan Province, China

BMC Pregnancy and Childbirth
Objective To describe the prevalence and epidemiology of congenital polydactyly and syndactyly in Hunan Province, China, 2016–2020. Methods Data were obtained from the Birth Defects Surveillance System in Hunan Province, China, 2016–2020.
Xu Zhou, Ting Li, Haiyan Kuang, Ying Zhou, Donghua Xie, Jian He, Juan Xiao, Chanchan Chen, Yurong Jiang, Junqun Fang, Hua Wang   +10 more
doaj   +1 more source