Results 71 to 80 of about 16,672 (213)

Ventriculomegaly, Intrauterine Growth Restriction, and Congenital Heart Defects as Salient Prenatal Sonographic Findings of Miller-Dieker Lissencephaly Syndrome Associated With Monosomy 17p (17p13.2 → pter) in a Fetus

Taiwanese Journal of Obstetrics & Gynecology, 2010
Objective: To present the prenatal sonographic findings of Miller-Dieker lissencephaly syndrome (MDLS) associated with monosomy 17p (17p13.2 → pter) in a fetus. Case Report: A 25-year-old, gravida 3, para 1, woman was referred to Mackay Memorial Hospital
Chih-Ping Chen, Yu-Peng Liu, Shaun-Pei Lin, Ming Chen, Fuu-Jen Tsai, Yu-Ting Chen, Li-Feng Chen, Jonathan Kwei Hwang, Wayseen Wang   +8 more
doaj   +1 more source

22q11 Deletion Syndrome and Urogenital Manifestations: A Clinicopathological Case Report. [PDF]

, 2016
Deletion in the chromosomal region 22q11 results from the abnormal development of the third and fourth pharyngeal pouches during embryonic life and presents an expansive phenotype with more than 180 clinical features described that involve every organ ...
Ben Ali, N., Bouquet de la Joliniere, J., Capoccia Brugger, R., Feki, A., Grant, G.E., Jotterand, M., Vachette, M.   +6 more
core   +1 more source

When Rarity Hits Twice: Hemophagocytic Lymphohistiocytosis in Kabuki Syndrome—A Case Report From Palestine

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Clinicians should maintain a high index of suspicion for Hemophagocytic Lymphohistiocytosis in Kabuki syndrome patients who present with persistent fever, cytopenias, and organomegaly. Prompt diagnosis and multidisciplinary management are essential to improve outcomes in this rare but potentially fatal complication.
Lilyan Jarrar, Raya Fuqha, Ahmad Mashni, Mohammad Hamdan, Sameer Alomari, Mohammad Ataya, Yazan Abed, Laith Abed   +7 more
wiley   +1 more source

A defect in early myogenesis causes Otitis media in two mouse models of 22q11.2 Deletion Syndrome [PDF]

, 2014
Otitis media (OM), the inflammation of the middle ear, is the most common disease and cause for surgery in infants worldwide. Chronic Otitis media with effusion (OME) often leads to conductive hearing loss and is a common feature of a number of ...
Baldini, A, Fuchs, JC, Linden, JF, Tucker, AS   +3 more
core  

Cataract and optic disk drusen in a patient with glycogenosis and di George syndrome: clinical and molecular report [PDF]

, 2017
Background We report the ophthalmic findings of a patient with type Ia glycogen storage disease (GSD Ia), DiGeorge syndrome (DGS), cataract and optic nerve head drusen (ONHD).
Allegrini, D., Autelitano, A., Damante, G., Maver, A., Montanari, C., Montesano, G., Paci, S., Pece, A., Penco, S., Peterlin, B., Rossetti, L. M.   +10 more
core   +2 more sources

Interplay between RNA‐protein interactions and RNA structures in gene regulation

FEBS Open Bio, Volume 16, Issue 2, Page 299-313, February 2026.
Methodological advances in mapping transcriptome‐wide RNA‐protein interactions and RNA structures have started to uncover the potential of RNP conformations in gene regulation. Competing RNA–RNA, RNA‐protein and protein–protein interactions shape the compaction and function of RNPs throughout their lifetime and may provide novel therapeutic targets in ...
Jenni Rapakko, Mauro Scaravilli, Minna‐Liisa Änkö   +2 more
wiley   +1 more source

Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci

Orphanet Journal of Rare Diseases, 2011
Background Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part of the vagina in women showing normal development of secondary sexual characteristics and a normal 46, XX karyotype.
Odent Sylvie, Paniel Bernard-Jean, Loget Philippe, Dubourg Christèle, Le Caignec Cédric, Rochard Lucie, Pasquier Laurent, Watrin Tanguy, Morcel Karine, David Véronique, Pellerin Isabelle, Bendavid Claude, Guerrier Daniel   +12 more
doaj   +1 more source

Essential role of the Crk family-dosage in DiGeorge-like anomaly and metabolic homeostasis

Life Science Alliance, 2020
This study presents evidence that CRK/CRKL and TBX1 may share pathways that participate in organogenesis affected in DiGeorge syndrome (22q11.2DS) via global control of gene expression and metabolism CRK and CRKL ( CRK-like ) encode adapter proteins with
Akira Imamoto, Sewon Ki, Leiming Li, Kazunari Iwamoto, Venkat Maruthamuthu, John Devany, Ocean Lu, Tomomi Kanazawa, Suxiang Zhang, Takuji Yamada, Akiyoshi Hirayama, Shinji Fukuda, Yutaka Suzuki, Mariko Okada   +13 more
doaj   +1 more source

Deleción 22q11.2 en pacientes con defecto cardiaco conotruncal y fenotipo del síndrome de la deleción 22q11.2 [PDF]

, 2009
BACKGROUND: The 22q11.2 deletion syndrome is the most frequent human microdeletion syndrome. The phenotype is highly variable, being characterized by conotruncal heart defect, facial dysmorphisms, velopharyngeal insufficiency, learning difficulties and ...
Belangero, Sintia Iole, Bellucco, Fernanda Teixeira da Silva, Cernach, Mirlene Cecilia Soares Pinho, Christofolini, Denise Maria, Kulikowski, Leslie Domenici, Melaragno, Maria Isabel   +5 more
core   +3 more sources

DiGeorge's Syndrome and Fetal Alcohol Syndrome

Archives of Pediatrics & Adolescent Medicine, 1983
Sir.—Four patients with clinical and laboratory features of DiGeorge's syndrome with a history of maternal alcoholism were described by Ammann et al in the article "The DiGeorge Syndrome and the Fetal Alcohol Syndrome" (Journal1982;136:906-908). In the article (p 906), Ammann and colleagues stated, "Maternal alcoholism may result in the DiGeorge ...
openaire   +3 more sources