Results 61 to 70 of about 228,263 (297)

Dentofacial Malocclusion in Neurofibromatosis 1 in Finland

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Neurofibromatosis 1 (NF1) is an inherited disease that can be accompanied by oral health problems such as caries, periodontitis, and tumors affecting the oral cavity. Also, different maxillary and mandibular malformations are associated with NF1.
Vivian Reinhold, Mikko Valtanen, Kari Auranen, Stina Syrjänen, Sirkku Peltonen, Juha Peltonen, Roope A. Kallionpää   +6 more
wiley   +1 more source

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender

BJS (British Journal of Surgery), EarlyView., 2020
Recommendations for clinical and molecular identification of LS, surgical and endoscopic management of LS‐associated colorectal cancer and preventive measures for cancer were produced. The emphasis was on surgical and gastroenterological aspects of the cancer spectrum.
T. T. Seppälä, A. Latchford, I. Negoi, A. Sampaio Soares, R. Jimenez‐Rodriguez, L. Sánchez‐Guillén, D. G. Evans, N. Ryan, E. J. Crosbie, M. Dominguez‐Valentin, J. Burn, M. Kloor, M. von Knebel Doeberitz, F. J. B. van Duijnhoven, P. Quirke, J. R. Sampson, P. Møller, G. Möslein, on behalf of the European Hereditary Tumour Group (EHTG) and European Society of Coloproctology (ESCP)   +18 more
wiley   +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

Mucinous cystic neoplasm of the pancreas with severe dysplasia during pregnancy: Case report and review of the literature

Taiwanese Journal of Obstetrics & Gynecology, 2012
Objective: Mucinous cystic neoplasm (MCN) of the pancreas occurs mainly in women aged 40–60 years, so it is extremely rare in pregnant woman. Case Report: A 28-year-old woman in the ninth week of pregnancy was referred to our hospital due to a tumor of ...
Hiroyuki Tsuda, Tomomi Kotani, Seiji Sumigama, Yukio Mano, Yoshie Shimoyama, Fumitaka Kikkawa   +5 more
doaj   +1 more source

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz, Andrea Schelhaas, Angela L. Duker, Ricki S. Carroll   +3 more
wiley   +1 more source

DENERVAÇÃO ARTICULAR COXOFEMORAL EM CÃES COM DOENÇA ARTICULAR DEGENERATIVA SECUNDÁRIA À DISPLASIA

Ciência Animal Brasileira, 2013
The hip denervation technique has been performed in dysplasic dogs, demonstrating to be efficient in the relief of pain. The objective of this work was to evaluate pain relief, improvement of joint function, muscular rehabilitation and instability ...
Leandro Branco Rocha, Eduardo Alberto Tudury, Cláudio Roehsig, Durval Baraúna, Ricardo Chioratto, Felipe Purcell Araújo, Bernardo Kemper   +6 more
doaj  

Craniometaphyseal Dysplasia [PDF]

Archives of Plastic Surgery, 2013
Sin Rak Kim, Yea Sik Han
openaire   +4 more sources

Chromosome 3q22.2‐q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis‐Ptosis‐Epicanthus Inversus Syndrome, Dandy‐Walker Malformation, Pierre Robin Sequence, and Recurrent Infections

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun, Sonja Henry, Vivek Balasubramaniam   +2 more
wiley   +1 more source

Correlation of impression cytology with histopathology in the diagnosis of ocular surface squamous neoplasia

TNOA Journal of Ophthalmic Science and Research, 2017
Background: Ocular surface squamous neoplasia (OSSN) includes a wide spectrum of conjunctival and corneal intraepithelial neoplasia which can manifest as dysplasia, carcinoma in situ, and invasive squamous cell carcinoma. OSSN can be diagnosed by certain
Sharmiladevi Vinod, R Radha Priyadharshni, M Anandababu, B Meenakshi, Jiz Mary Santhosh   +4 more
doaj   +1 more source