Results 51 to 60 of about 353,179 (261)

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Age and Prevalence of Cervical Carcinoma in Subsequent Hysterectomy Following a Conization Procedure

Taiwanese Journal of Obstetrics & Gynecology, 2009
Objective: To determine the prevalence and age of patients with cervical carcinoma missed by a loop electrosurgical excision procedure. Materials and Methods: A total of 253 women with cervical dysplasia who underwent conization and 248 women who later ...
Ting-Hung Wun, Will Wei-Cheng Chiu, Chen-Bin Wang, Ching-Cheng Tseng, Chun-Hung Chen, Yu-Hsiang Lin, Chung-Yuan Lee, Ying-Lun Sun, Chih-Jen Tseng   +8 more
doaj   +1 more source

Craniometaphyseal and craniodiaphyseal dysplasia, head and neck manifestations and management [PDF]

, 1996
Craniometaphyseal and craniodiaphyseal dysplasia are rare genetic disorders of bone due to modelling errors of long bones and skull bones. These syndromes present with multiple ENT symptomatology from an early age.
Bailey, CM, Dillon, MJ, Richards, A, Brain, C   +3 more
core  

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Cost of Preventing, Managing, and Treating Human Papillomavirus (HPV)-Related Diseases in Sweden before the Introduction of Quadrivalent HPV Vaccination. [PDF]

PLoS ONE, 2015
Costs associated with HPV-related diseases such as cervical dysplasia, cervical cancer, and genital warts have not been evaluated in Sweden. These costs must be estimated in order to determine the potential savings if these diseases were eradicated and ...
Ellinor Östensson, Maria Fröberg, Amy Leval, Ann-Cathrin Hellström, Magnus Bäcklund, Niklas Zethraeus, Sonia Andersson   +6 more
doaj   +1 more source

Cervical screening by visual inspection, HPV testing, liquid-based and conventional cytology in Amazonian Peru.

, 2007
Cervical cancer is an important public health problem in many developing countries, where cytology screening has been ineffective. We compared four tests to identify the most appropriate for screening in countries with limited resources.
Jack Cuzick, Cuzick, Jack, Jennifer L. Winkler, Rina Takahashi, Sylvia Robles, Vivien Tsu, Takahashi, Rina, Maribel Almonte, Tsu, Vivien, Winkler, Jennifer L, Sasieni, Peter, Almonte, Maribel, Robles, Sylvia, Ferreccio, Catterina, Winkler, Jennifer L., Catterina Ferreccio, Peter Sasieni   +16 more
core   +1 more source

Role of Ureaplasma urealyticum and Ureaplasma parvum as Risk Factors for Cervical Dysplasia with Human Papillomavirus [PDF]

, 2023
Human papillomavirus (HPV) can be transmitted sexually and causes cervical malignancies in women. Among the risk factors, sexually transmitted infections (STIs) caused by bacteria have raised concerns because they are asymptomatic and persistent and can ...
Andi Yasmon, Lisnawati Rachmadi, Mardhia Mardhia, Junita Indarti   +3 more
core   +1 more source

Toward Objective Anal Cancer Screening: From Swab‐Based Genome‐Wide Methylation Marker Discovery to Novel Test Development

International Journal of Cancer, EarlyView.
ABSTRACT Anal high‐grade squamous intraepithelial lesions (HSIL:AIN2/3) are precursors to anal cancer, and early detection and treatment through screening is crucial for effective cancer prevention. Current guidelines recommend anal swab‐based screening and highlight the need for objective biomarkers to improve risk stratification.
Kirsten Rozemeijer, Jürgen Claesen, Fernando Dias Gonçalves Lima, Albertus T. Hesselink, Phoebe Klingers, Timo ter Braak, Yara van den Burgt, Chris J. L. M. Meijer, Jan M. Prins, Henry J. C. de Vries, Mark A. van de Wiel, Renske D. M. Steenbergen   +11 more
wiley   +1 more source

HPV Genotype Distribution in Cervical Cancer and High‐Grade Lesions in Norway, and Early Vaccine Impact

International Journal of Cancer, EarlyView.
ABSTRACT All cases of invasive cervical cancer (ICC) and subsets of high‐grade cervical intraepithelial neoplasia grade 2 or 3 (CIN2/3) and adenocarcinoma in situ (AIS) in Norway are tested for 37 human papillomavirus (HPV) genotypes, within a mandatory national surveillance system.
Terese Bekkevold, Ida Laake, Berit Feiring, Kristiane Søreng, Gro Kummeneje Presthus, Glenny Cecilie Alfsen, Irene Kraus Christiansen, Mona Hansen, Hanne Kristiansen, Eirik Olsen, Torstein Gjølgali Frengen, Emily A. Burger, Christine Genieve Monceyron Jonassen, Lill Trogstad   +13 more
wiley   +1 more source

Monostotic fibrous dysplasia of the spine: report of a case involving a cervical vertebra [PDF]

, 2007
Monostotic fibrous dysplasia of the spine is a rare entity. Only 26 cases, of which 11 were located in the cervical spine, are to be found in the literature.
Heini, P, Orler, R, Stauffer, E, Proschek, D   +3 more
core   +2 more sources