Results 111 to 120 of about 94,979 (341)

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil, Allison Daley, Emily R. Sites, Shayne M. Plourde, Jesse M. Hunter, Dennis W. Bartholomew, April N. Lehman, Daniel C. Koboldt, Rolf W. Stottmann   +8 more
wiley   +1 more source

A new incision for unilateral cleft lip repair developed using animated simulation of repair on computer [PDF]

, 2007
Amit Sahay, R Bharat
openalex   +2 more sources

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source

The effects of maternal mirroring on the development of infant social expressiveness: the case of infant cleft lip [PDF]

, 2018
Parent-infant social interactions start early in development, with infants showing active communicative expressions by just two months. A key question is how this social capacity develops.
Bicknell, Sarah, Bozicevic, Laura, Chakrabarti, Bhismadev, Cooper, Peter, Dalton, Louise, De Pascalis, Leonardo, Ferrari, Pier Francesco, Goodacre, Tim, Murray, Lynne, Stein, Alan, Vaillancourt, Kyla   +10 more
core   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Maternal risk factors for oral clefts: A case-control study [PDF]

, 2012
Introduction: A cleft lip with or without a cleft palate is one of the major congenital anomalies observed in newborns. This study explored the risk factors for oral clefts in Gorgan, Northern Iran. Materials and Methods: This hospital-based case-control
Golalipour, M.J., Kaviany, N., Mobasheri, E., Qorbani, M.   +3 more
core  

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Identification of a novel TP63 mutation causing nonsyndromic cleft lip with or without cleft palate [PDF]

, 2021
Tianhui Xu, Mengmeng Du, Xinhua Bu, Donglan Yuan, Zhiping Gu, Pei Yu, Xuefang Li, Jiao Chen, Chunyan Jin   +8 more
openalex   +1 more source

Surface‐Coated Inorganic Nanomaterials for Drug Delivery: Chemical Design, Biomedical Applications, and Mechanistic Insights

Advanced NanoBiomed Research, EarlyView.
This review explores how surface‐coated inorganic nanomaterials are chemically engineered for advanced drug delivery. It highlights design principles, coating strategies, and biomedical applications, emphasizing how surface chemistry governs biocompatibility, targeting, and controlled release.
Hossein Daneshgar, Sepideh Ahmadi, Nikzad Abbariki, Navid Rabiee, Sidi A. Bencherif   +4 more
wiley   +1 more source