Results 111 to 120 of about 2,320,202 (301)

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale, Christopher Tiessen, Vithya Gnanakumar   +2 more
wiley   +1 more source

Lymphocytic Interstitial Pneumonia with Varied Association: Case Series

Medical Journal of Dr. D.Y. Patil Vidyapeeth
Lymphocytic interstitial pneumonia (LIP) is an unusual variant of interstitial lung disease with unknown incidence and prevalence. It is often seen in patients with autoimmune diseases and in immune-compromised individuals, and is associated with ...
Kundan Mehta, R.M Manjush, Spandana Chaudhury, Mahavir Bagrecha, M.S. Barthwal   +4 more
doaj   +1 more source

Combination of HDACi and Fuc-Lip-sorafenib augments tumor suppression in vivo.

, 2016
(A) Treatment schedule for the HepG2 xenograft mouse model. F0-Lip-sorafenib (1 mg/kg), or F50-Lip-sorafenib solution (1 mg/kg) was administered via tail vein injection twice a week for seven weeks. SAHA (1 mg/kg) was administered daily intraperitoneally.
Hajime Nakamura (3428984), Yusuke Kamihara (3214998), Naotaka Hayasaka (3560810), Makoto Usami (757009), Koji Miyanishi (151762), Kazuyuki Murase (151747), Yutaka Okagawa (3560807), Junji Kato (151778), Takahiro Osuga (151758), Masayoshi Kobune (151774), Kohichi Takada (151767), Shohei Kikuchi (832677), Yohei Arihara (3560813)   +12 more
core   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Complications and Clinical Outcomes Following Modified Endoscopic Denker's With Pyriform Aperture Preservation: A Prospective Analysis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background The modified endoscopic Denker's (MED) approach provides access to all maxillary sinus (MS) walls for resection of various MS and retromaxillary pathologies, but the anteromedial maxilla has historically been resected. This study determined complication rates and outcomes following MED with pyriform aperture (PA) preservation ...
Yasser Almansour, Lane Donaldson, Khaled Kashlan, Swapna Vemuri, Jun Jin, John R. Craig   +5 more
wiley   +1 more source

Motor equivalent strategies in the production of /u/ in perturbed speech [PDF]

, 2010
Several articulatory strategies are available during the production of /u/, all resulting in a similar acoustic output. /u/ has two main constrictions, at the velum and at the lips.
Perrier, Pascal, Brunner, Jana, Hoole, Phil   +2 more
core  

Reflecting the human lip in vitro: Cleft lip skin and mucosa keratinocytes keep their identities. [PDF]

OBJECTIVES Cell models have shown great promise as tools for research, potentially providing intriguing alternatives to animal models. However, the original tissue characteristics must be maintained in culture, a fact that is often assumed, but seldom
Lauener, Anic, Rihs, Silvia, Mansour, Farah, Dekany, Gabriela M, La Scala, Giorgio C, Parisi, Ludovica, Degen, Martin, Schnyder, Isabelle, Katsaros, Christos, La Scala, Giorgio   +9 more
core   +1 more source

Rethinking brachycephaly: Anatomical implications and health considerations in lagomorphs

The Anatomical Record, EarlyView.
Abstract Brachycephaly in domestic rabbits is increasingly perceived by welfare organizations as associated with significant health complications, particularly oral pathologies. Despite this perception, comparative anatomical research into rabbit brachycephaly is limited compared to that of dogs and cats, compelling an in‐depth examination of its ...
Helaina Cressy, Alice Nishigaki, Matthew C. Gage, Renato L. Previdelli   +3 more
wiley   +1 more source

Descriptive, comparative, and functional anatomy of the facial musculature in cattle (Bos taurus)

The Anatomical Record, EarlyView.
Abstract Facial expressions can provide insight into animal emotions and pain, but no standardized system for assessing the entire facial display in cattle (Bos taurus Linnaeus) exists. The Facial Action Coding System (FACS), originally developed for humans, identifies distinct facial movements based on mimetic muscles.
Maja Söderlind, Bridget Cain, Katrina Ask, Jean‐Francois Valarcher, Elin Hernlund, Pia Haubro Andersen, Marie Rhodin   +6 more
wiley   +1 more source