Results 111 to 120 of about 30,423 (291)

CONGENITAL MALFORMATIONS OF THE FETUS, INCOMPATIBLE WITH LIFE, STRUCTURE, THEIR COMBINATION WITH CHANGES IN THE PLACENTA

Мать и дитя в Кузбассе, 2018
Purpose of the study – identify the structure of congenital fetal malformation incompatible with life, leading to induced abortion for medical reasons, the structural changes in the future. Materials and methods.
Екатерина Валерьевна Коломбет, Елена Николаевна Кравченко, Алла Ефимовна Любавина   +2 more
doaj  

Retinal Vessel Segmentation: A Comprehensive Review From Classical Methods to Deep Learning Advances (1982–2025)

Advanced Intelligent Systems, EarlyView.
Four decades of retinal vessel segmentation research (1982–2025) are synthesized, spanning classical image processing, machine learning, and deep learning paradigms. A meta‐analysis of 428 studies establishes a unified taxonomy and highlights performance trends, generalization capabilities, and clinical relevance.
Avinash Bansal, Jan Kubíček, Jana Bahrová, Alice Varyšová, Martin Augustýnek, Marek Penhaker, Juraj Timkovič   +6 more
wiley   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Familiäre Kavernome des Zentralnervensystems: Eine klinische und genetische Studie an 15 deutsche Familien [PDF]

, 2018
Zusammenfassung: 1928 beschrieb Hugo Friedrich Kufs erstmalig eine Familie mit zerebralen, retinalen und kutanen Kavernomen. Mittlerweile wurden über 300 weitere Familien beschrieben.
Andermann, E., Andermann, F., Baumann, C., Bertalanffy, H., Dichgans, J., Elger, C., Hopf, H., Hopf, N., Keidel, M., Kleider, A., Nowak, G., Pfeiffer, R., Rouleau, G., Schramm, J., Siegel, A., Spuck, S., Stefan, H., Sure, U., Verlaan, D.   +18 more
core  

Pediatric Central Nervous System Vascular Malformation : Pathological Review with Diagram

Journal of Korean Neurosurgical Society
Pediatric central nervous system (CNS) vascular malformations are a group of abnormal blood vessel formations within the brain or spinal cord in children. The most crucial point of pediatric CNS vascular malformation is that no golden standard classifications exist.
openaire   +2 more sources

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Ultrasound Super‐Resolution Imaging of Neonatal Cerebral Vascular Reorganization

Advanced Science
During the first days of neonatal growth, the central nervous system (CNS) develops self‐regulatory mechanisms to ensure constant cerebral perfusion.
Simone Schwarz, Louise Denis, Emmanuel Nedoschill, Adrian Buehler, Vera Danko, Alina C. Hilger, Francisco Brevis Nuñez, Nikola R. Dürr, Martin Schlunz‐Hendann, Friedhelm Brassel, Ursula Felderhoff‐Müser, Heiko Reutter, Joachim Woelfle, Jörg Jüngert, Christian Dohna‐Schwake, Nora Bruns, Adrian P. Regensburger, Olivier Couture, Henriette Mandelbaum, Ferdinand Knieling   +19 more
doaj   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Catheter embolization for pulmonary arteriovenous malformations during chemotherapy for appendiceal adenocarcinoma: A case report of associated brain abscess

Radiology Case Reports
Pulmonary arteriovenous malformations are rare, abnormal, low-resistance vascular structures that connect a pulmonary artery to a vein. They are common in patients with hereditary hemorrhagic telangiectasia; however, acquired malformations can occur in ...
Toshinari Yagi, MD, Koji Takano, MD, PhD, Toru Umehara, MD, PhD, Hideyuki Arita, MD, PhD, Noboru Maeda, MD, PhD, Katsuyuki Nakanishi, MD, PhD   +5 more
doaj   +1 more source