Results 51 to 60 of about 5,244 (207)

Fibroblast growth factor signaling in skeletal development and disease [PDF]

, 2015
Fibroblast growth factor (FGF) signaling pathways are essential regulators of vertebrate skeletal development. FGF signaling regulates development of the limb bud and formation of the mesenchymal condensation and has key roles in regulating ...
Marie, Pierre J, Ornitz, David M
core   +2 more sources

Concurrent validity and agreement of Bayley‐4, AIMS, and HINE assessments in 1‐year‐old children

Developmental Medicine &Child Neurology, EarlyView.
In this cross‐sectional study of children around 1‐year‐old, the Bayley‐4 showed concurrent validity and moderate to substantial agreement with the AIMS and the HINE in both clinical and home settings. Abstract Aim To examine concurrent validity between the Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley‐4) gross motor subtest ...
Weiyang Deng, Bahda Hoang, Meaghan Rubsam, Gabriela Lopez, Megan K. O'Brien, Theresa Sukal‐Moulton, Barbara Sargent, Colleen Peyton, Elizabeth Hoffman, Samuel Carey, Nicole Pouppirt, Raye‐Ann de Regnier, John A. Rogers, Richard L. Lieber, Arun Jayaraman   +14 more
wiley   +1 more source

Apert Syndrome Presenting with Omphalocele [PDF]

Journal of Krishna Institute of Medical Sciences University, 2019
Apert syndrome is a congenital acrocephalosyndactyly syndrome. It is mainly presented by craniosynostosis, syndactyly of the hands and feet and dysmorphic facial features.
Keerti Swarnkar, Sarika Gaikwad, Punam Uke, Keta Vagha, Yash Dalal   +4 more
doaj  

From shape to cells: mouse models reveal mechanisms altering palate development in Apert syndrome

Disease Models & Mechanisms, 2013
SUMMARY Apert syndrome is a congenital disorder characterized by severe skull malformations and caused by one of two missense mutations, S252W and P253R, on fibroblast growth factor receptor 2 (FGFR2).
Neus Martínez-Abadías, Greg Holmes, Talia Pankratz, Yingli Wang, Xueyan Zhou, Ethylin Wang Jabs, Joan T. Richtsmeier   +6 more
doaj   +1 more source

Values of Individuals With Rare Genetic Neurodevelopmental Disorders and Their Family/Caregivers in Healthcare: A Scoping Review to Inform Guideline Development

Journal of Intellectual Disability Research, Volume 70, Issue 6, Page 608-652, June 2026.
ABSTRACT Background Healthcare decision‐making for individuals with rare genetic neurodevelopmental disorders (RGNDs) associated with intellectual disabilities (ID) can be complex due to the intersection of lifelong care needs, limited medical expertise and communication barriers.
Mirthe J. Klein Haneveld, Louise Cox, Petri J. C. M. Embregts, Alistair R. Niemeijer, Martina C. Cornel, Charlotte M. W. Gaasterland, Agnies M. van Eeghen   +6 more
wiley   +1 more source

Intronic Single Nucleotide Polymorphisms in FGFR2 Gene Association With Non‐Syndromic Mandibular Retrognathism

Orthodontics &Craniofacial Research, Volume 29, Issue 3, Page 538-545, June 2026.
ABSTRACT Objective Mandibular retrognathism (MR) is a skeletal malocclusion in which patients have a deficient mandibular length, resulting in a more posterior position of the mandible. We aimed to investigate the association between Single nucleotide polymorphisms (SNPs) in Fibroblast Growth Factor Receptor 2 (FGFR2) gene and MR in germans.
Caio Luiz Bitencourt Reis, Christian Kirschneck, Daniel Hemming, Eva Paddenberg‐Schubert, Peter Proff, Daniela Silva Barroso de Oliveira, Cristiano Miranda de Araujo, Flares Baratto‐Filho, Svenja Beisel‐Memmert, Erika Calvano Küchler   +9 more
wiley   +1 more source

Aberrant growth of the anterior cranial base relevant to severe midface hypoplasia of Apert syndrome

Maxillofacial Plastic and Reconstructive Surgery, 2018
Background A 9-year-old male showed severe defects in midface structures, which resulted in maxillary hypoplasia, ocular hypertelorism, relative mandibular prognathism, and syndactyly. He had been diagnosed as having Apert syndrome and received a surgery
Bong Kuen Cha, Dong Soon Choi, In San Jang, Hyun Tae Yook, Seung Youp Lee, Sang Shin Lee, Suk Keun Lee   +6 more
doaj   +1 more source

Pathways to enhancing prenatal diagnosis of skeletal dysplasias

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Skeletal dysplasias are a group of Mendelian disorders that variably alter the development of the musculoskeletal system and phenotypically range from mild short stature syndromes to severe perinatal or neonatal morbidity. Prenatal diagnosis of these conditions can be challenging due to the lack of precision with ultrasound imaging compared to
Michelle Joy Wang, Christina Jacobsen, Jennifer Arnold, Ronald J. Wapner, Deborah Krakow   +4 more
wiley   +1 more source

Apparently synonymous substitutions in FGFR2affect splicing and result in mild Crouzon syndrome [PDF]

, 2014
BACKGROUND: Mutations of fibroblast growth factor receptor 2 (FGFR2) account for a higher proportion of genetic cases of craniosynostosis than any other gene, and are associated with a wide spectrum of severity of clinical problems.
A Jeannette M Hoogeboom, Aimee L Fenwick, Andrew OM Wilkie, Ans MW van den Ouweland, Helen Lord, Irene MJ Mathijssen, Jacqueline AC Goos, Julia Rankin, Steven A Wall, Tracy Lester   +9 more
core   +5 more sources

Research advances in Apert syndrome

Journal of Oral Biology and Craniofacial Research, 2018
Apert syndrome is one of the several genetic syndromes associated with craniosynostosis, a condition that includes premature fusion of one or multiple cranial sutures.
Satrupa Das, Anjana Munshi
doaj   +1 more source