Results 111 to 120 of about 30,730 (271)

Growing Up Toxic: Chemical Exposures and Increases in Developmental Disease [PDF]

, 2011
Explains how exposure to toxic chemicals can harm health and impair development, causing premature birth, learning disabilities, behavioral disorders, asthma and allergies, and/or other problems.
Elizabeth Hitchcock, Travis Madsen
core  

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Exploring the Pathogenesis of Cryptorchidism Complicated with Azoospermia via Microarray Data Analysis [PDF]

, 2023
Xiaodong Zhao
openalex   +1 more source

Bone Marrow Failure as an Underrecognized Feature of KAT6A Syndrome

Pediatric Blood &Cancer, Volume 73, Issue 2, February 2026.
ABSTRACT KAT6A syndrome (Arboleda–Tham syndrome) is a rare disorder caused by heterozygous pathogenic variants in KAT6A, a histone acetyltransferase essential for chromatin remodeling and hematopoietic stem cell function. While neurodevelopmental features are well established, hematologic manifestations are underrecognized.
Ye Jee Shim, Bruce Crooks, Hyoung Jin Kang, Kyung Taek Hong, Jung Yoon Choi, Hye Ra Jung, Chang Ahn Seol, Rinu Mathew, Yigal Dror   +8 more
wiley   +1 more source

Exposure to pesticides and cryptorchidism: geographical evidence of a possible association [PDF]

, 1996
J García-Rodríguez, M García-Martín, M Nogueras-Ocaña, Juan de Dios Luna, M Espigares García, Nicolás Olea, Pablo Lardelli‐Claret   +6 more
openalex   +1 more source

TBX3‐ Related Disorder

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 291-299, February 2026.
ABSTRACT Heterozygous pathogenic variants in TBX3 cause Ulnar‐Mammary syndrome (UMS). The phenotype is classically characterized by upper limb defects, apocrine/mammary gland hypoplasia, hypogonadism, and various midline defects. However, the clinical spectrum is highly variable, and some individuals may present with a mild or atypical presentation ...
Ziv Halperin, Karin Weiss
wiley   +1 more source

New discovery of cryptorchidism: Decreased retinoic acid in testicle

Saudi Pharmaceutical Journal, 2016
This study focuses on investigation of cryptorchidism induced by flutamide (Flu) and its histopathological damage, and detects retinoic acid concentration in testicle tissue, in order to find a new method for clinical treatment to infertility caused by ...
Jinpu Peng, Lianju Shen, Jinjun Chen, Xining Cao, Yue Zhou, Huali Weng, Chunlan Long, Deying Zhang, Shengfen Tu, Yan Zhang, Dawei He, Tao Lin, Guanghui Wei   +12 more
doaj   +1 more source

Management of cryptorchidism in children: guidelines [PDF]

, 2008
QUESTION: To develop clinical guidelines for the management of cryptorchidism in pre-pubertal boys, from early diagnosis through therapy to long-term follow-up and prognosis.
Burnand, B., Cachat, F., Frey, P., Gapany, C., Gudinchet, F., Jichlinski, P., Meyrat, B. J., Ramseyer, P., Theintz, G.   +8 more
core  

De novo variants disturbing the transactivation capacity of POU3F3 cause a characteristic neurodevelopmental disorder

, 2019
POU3F3, also referred to as Brain-1, is a well-known transcription factor involved in the development of the central nervous system, but it has not previously been associated with a neurodevelopmental disorder.
Au, C., Baker, S., Bergstrom, K., Bodek, S., Brunner, H., Cunniff, C., Dentici, M., Derizioti, P., Faivre, L., Firth, H., Fisher, S., Gilissen, C., Iglesias, A., Izumi, K., Kleefstra, T., Kroes, H., Lachmeijer, A., Leonard, J., Maas, S., Matsumoto, N., Miyake, N., Niceta, M., Okamoto, N., Pfundt, R., Philippe, C., Powis, Z., Shinde, D., Snijders Blok, L., Tang, S., Tartaglia, M., Tayoun, A., Tomkins, S., Van Gassen, K., Venselaar, H., Vitobello, A., Wiel, L., Wojcik, M., Õunap, K.   +37 more
core   +1 more source

Unilateral renal agenesis and ipsilateral absence of the vas deferens in a cryptorchid infant with Klippel-Feil syndrome

, 2023
Toshimitsu Tanaka, Fumi Matsumoto, Satoko Matsuyama, Futoshi Matsui   +3 more
openalex   +1 more source