Results 41 to 50 of about 4,154,048 (298)

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

Comparative analysis of gynaecological status of workers from textile and metal industry [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2008
Introduction Female workers in textile and metal industry are exposed to various physical and chemical hazards that can lead to the occurrence of gynaecological diseases.
Milovanović Aleksandar, Dotlić Jelena, Jakovljević Branko, Milovanović Jovica, Petković Slavica, Ćorac Aleksandar, Blagojević Tatjana   +6 more
doaj   +1 more source

High prevalence and incidence of human papillomavirus in a cohort of healthy young African female subjects. [PDF]

, 2013
OBJECTIVES: We measured the prevalence and incidence of human papillomavirus (HPV) infection in young female subjects recruited for a safety and immunogenicity trial of the bivalent HPV-16/18 vaccine in Tanzania.
Mayaud, Philippe, Hayes, Richard J, Kapiga, Saidi, de Sanjosé, Silvia, Changalucha, John, Baisley, Kathy, Gumodoka, Balthazar, Watson-Jones, Deborah, Andreasen, Aura, Brown, Joelle, Kavishe, Bazil   +10 more
core   +1 more source

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno, Tatsuto Shimizu, Aiko Igarashi, Kazumi Ikeda, Masamichi Ikawa, Sumihito Togi, Hiroki Ura, Yo Niida, Katsutsugu Umeda   +8 more
wiley   +1 more source

Comparison of HIV-1 specific T cell immunity in the female genital tract and blood of HIV-infected women : impact of in vitro T cell expansion on HIV-specific T cell specificity, maturational status and functional complexity [PDF]

, 2010
Includes bibliographical references (leaves 161-184).This study shows that HIV-specific cervical T cells can be isolated by cytobrushing and in vitro polyclonal expansion is a useful approach to increase the number of T cells available from mucosal sites.
Bere, Alfred
core   +1 more source

Infections of reproductive organs in female rabbits

Науковий вісник Львівського національного університету ветеринарної медицини та біотехнологій імені С.З. Ґжицького: Серія Ветеринарні науки
Symptomatic infertility is a temporary or permanent disturbance in reproductive function wherein the animal cannot become pregnant due to diseases of genital organs or systemic diseases.
L. V. Koreyba, V. V. Hlebeniuk, V. M. Plys   +2 more
doaj   +1 more source

Primary Care Management Protocols for Genital Ulceration and Urethritis

South African Family Practice, 1986
No abstract available.
Andrew Murray
doaj   +1 more source

Female genital tuberculosis: A disease seen again in Europe

Vojnosanitetski pregled, 2007
Background. Dramatic worsening of epidemiological situation with tuberculosis (TB) in the world has made extra- pulmonary tuberculosis actual again. Female genital TB is very rare, but each case still remains a serious medical problem. Case report. A 23-year-old human immunodeficiency virus (HIV) seronegative woman with two-month duration amenorrhea ...
Dragica Pesut, Jelena Stojsic
openaire   +4 more sources

From Interferon Signature to the Clinical Landscape: Type I Interferonopathies

Arthritis &Rheumatology, EarlyView.
Objective TypeI interferonopathies are heterogeneous diseases driven by dysregulated type I interferon (IFN‐I) signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. The aim of this study was to characterize the clinical, immunologic, genetic, molecular profiles of patients with suspected ...
Ismail Yaz, Seza Ozen, Hacer Neslihan Bildik, Canberk Ipsir, Dilara Unal, Saliha Esenboga, Begum Cicek, Mehmet Emin Seker, Fatima Aerts‐Kaya, Seher Sener, Mehmet Orhan Erkan, Hanife Avci, Deniz Cagdas, Ilhan Tezcan   +13 more
wiley   +1 more source

PATHOGENETIC APPROACH TO TREATMENT OF INFLAMMATORY DISEASES OF FEMALE GENITALS

Neonatology, surgery and perinatal medicine, 2017
Вступ.Запальні захворювання жіночих статевих органів (ЗЗЖСО) займають перше місце серед інших нозологій в гінекології та являються причиною багатьох порушень репродуктивної функції жінок, серед яких найбільш значимими є безпліддя та звичне невиношування вагітності.
Semenyak, A. V., Yuzko, O. M., Andriyets, O. A., Nytsovych, I. R., Dikusarov, V. V.   +4 more
openaire   +3 more sources