Works about DYSGENESIS

Results: 303

Encountering the clinical complexity of type II Peters anomaly management approaches: a case report.

Published in:

2024

By:

Intan Permatasari, Devi Sarah;
Hermawan, Dicky;
Loebis, Rozalina

Publication type:

Case Study

At a glance: catalogue of systemic associations of congenital lacrimal drainage anomalies.

Published in:

Orbit, 2025, v. 44, n. 3, p. 359, doi. 10.1080/01676830.2024.2388711

By:

Ali, Mohammad Javed

Publication type:

Article

Unilateral agenesis of the internal carotid artery presented as transient ischaemic attack: a case report.

Published in:

Surgical & Radiologic Anatomy, 2012, v. 34, n. 5, p. 475, doi. 10.1007/s00276-011-0901-z

By:

Kiritsi, Olga;
Noussios, George;
Tsitas, Konstantinos;
Lappas, Dimitrios

Publication type:

Article

Improvements in hand function after intensive bimanual training are not associated with corticospinal tract dysgenesis in children with unilateral cerebral palsy.

Published in:

Experimental Brain Research, 2014, v. 232, n. 6, p. 2001, doi. 10.1007/s00221-014-3889-x

By:

Friel, Kathleen;
Kuo, Hsing-Ching;
Carmel, Jason;
Rowny, Stefan;
Gordon, Andrew

Publication type:

Article

Primary mesodermal dysgenesis of the cornea (Peter's anomaly).

Published in:

Journal of Ophthalmology (Ukraine) / Oftalʹmologičeskij Žurnal, 2022, n. 2, p. 65, doi. 10.31288/oftalmolzh202226567

By:

Garduño Vieyra, Leopoldo;
Rúa Martínez, Raúl;
Rodríguez Hernández, Francisco Javier;
De la Fuente Batta, Isabel

Publication type:

Article

A Novel Homozygous BMP15 Mutation Causes Ovarian Dysgenesis and Primary Amenorrhea.

Published in:

Journal of the Endocrine Society, 2025, v. 9, n. 2, p. 1, doi. 10.1210/jendso/bvae221

By:

Cohen, Amitay;
Rossetti, Raffaella;
Florsheim, Natan;
Samson, Abraham O;
Renbaum, Paul;
Carbone, Erika;
Persani, Luca;
Levy-Lahad, Ephrat;
Abu-Libdeh, Abdulsalam;
Zangen, David

Publication type:

Article

46, XY pure gonadal dysgenesis with malignant mixed germ cell tumor: a case report and literature review.

Published in:

2019

By:

Naiyi, Z.;
Hong, Z.;
Yunong, G.

Publication type:

Case Study

Bilateral gonadoblastoma in a 17-year-old patient with 46XY pure gonadal dysgenesis (Swyer syndrome).

Published in:

European Journal of Gynaecological Oncology, 2019, v. 40, n. 2, p. 325, doi. 10.12892/ejgo4384.2019

By:

Slopien, R.;
Jarzabek-Bielecka, G.;
Jasinski, P.;
Englert-Golon, M.;
Burchardt, B.;
Pisarska-Krawczyk, M.;
Sajdak, S.

Publication type:

Article

PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic-dyskinetic encephalopathy.

Published in:

Annals of Clinical & Translational Neurology, 2022, v. 9, n. 9, p. 1345, doi. 10.1002/acn3.51634

By:

Dafsari, Hormos Salimi;
Pemberton, Joshua G.;
Ferrer, Elizabeth A.;
Yammine, Tony;
Farra, Chantal;
Mohammadi, Mohammad Hasan;
Karimiani, Ehsan Ghayoor;
Hashemi, Narges;
Souaid, Mirna;
Sabbagh, Sandra;
Torbati, Paria Najarzadeh;
Khan, Suliman;
Roze, Emmanuel;
Moreno-De-Luca, Andres;
Bertoli-Avella, Aida M.;
Houlden, Henry;
Balla, Tamas;
Maroofian, Reza

Publication type:

Article

The P element invaded rapidly and caused hybrid dysgenesis in natural populations of Drosophila simulans in Japan.

Published in:

Ecology & Evolution (20457758), 2018, v. 8, n. 19, p. 9590, doi. 10.1002/ece3.4239

By:

Yoshitake, Yusaku;
Inomata, Nobuyuki;
Sano, Mai;
Kato, Yasuko;
Itoh, Masanobu

Publication type:

Article

Hypoaldosteronism due to a novel SEC61A1 variant successfully treated with fludrocortisone.

Published in:

Clinical Kidney Journal, 2024, v. 17, n. 8, p. 1, doi. 10.1093/ckj/sfae213

By:

Karpman, Diana;
Lindström, Martin L;
Möller, Mattias;
Ivarsson, Sofie;
Kristoffersson, Ann-Charlotte;
Bekassy, Zivile;
Fogo, Agnes B;
Elfving, Maria

Publication type:

Article

Ectodermal Dysplasia: Association with Anti-Basement Membrane Autoantibodies.

Published in:

2020

By:

Lucero Saá, Francisco;
Cremona, Federico Andrés;
Mínguez, Natalia Ximena;
Rinaudo, Carina Paola;
Chiaradía, Pablo

Publication type:

journal article

The clinical and genetic heterogeneity of mixed gonadal dysgenesis: does 'disorders of sexual development (DSD)' classification based on new Chicago consensus cover all sex chromosome DSD?

Published in:

European Journal of Pediatrics, 2012, v. 171, n. 10, p. 1497, doi. 10.1007/s00431-012-1754-0

By:

Öcal, Gönül;
Berberoğlu, Merih;
Şıklar, Zeynep;
Ruhi, Hatice;
Tükün, Ajlan;
Çamtosun, Emine;
Erdeve, Şenay;
Hacıhamdioğlu, Bülent;
Fitöz, Suat

Publication type:

Article

Genetic and Phenotypic Characteristics of Congenital Hypothyroidism in a Chinese Cohort.

Published in:

Frontiers in Endocrinology, 2021, v. 12, p. 1, doi. 10.3389/fendo.2021.705773

By:

Long, Wei;
Guo, Fang;
Yao, Ruen;
Wang, Ying;
Wang, Huaiyan;
Yu, Bin;
Xue, Peng

Publication type:

Article

Hybrid dysgenesis in Drosophila virilis results in clusters of mitotic recombination and loss-of-heterozygosity but leaves meiotic recombination unaltered.

Published in:

Mobile DNA, 2020, v. 11, n. 1, p. 1, doi. 10.1186/s13100-020-0205-0

By:

Hemmer, Lucas W.;
Dias, Guilherme B.;
Smith, Brittny;
Van Vaerenberghe, Kelley;
Howard, Ashley;
Bergman, Casey M.;
Blumenstiel, Justin P.

Publication type:

Article

Association of zygotic piRNAs derived from paternal <italic>P</italic> elements with hybrid dysgenesis in <italic>Drosophila melanogaster</italic>.

Published in:

Mobile DNA, 2018, v. 9, p. 1, doi. 10.1186/s13100-018-0110-y

By:

Wakisaka, Keiko Tsuji;
Ichiyanagi, Kenji;
Ohno, Seiko;
Itoh, Masanobu

Publication type:

Article

Whole genome sequencing in Drosophila virilis identifies Polyphemus, a recently activated Tc1-like transposon with a possible role in hybrid dysgenesis.

Published in:

Mobile DNA, 2014, v. 5, n. 1, p. 1, doi. 10.1186/1759-8753-5-6

By:

Blumenstiel, Justin P.

Publication type:

Article

Variable Anterior Segment Dysgenesis and Cardiac Anomalies Caused by a Novel Truncating Variant of FOXC1.

Published in:

Genes, 2022, v. 13, n. 3, p. 411, doi. 10.3390/genes13030411

By:

Ahmed, Mariya R.;
Sethna, Saumil;
Krueger, Laura A.;
Yang, Michael B.;
Hufnagel, Robert B.

Publication type:

Article

Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida.

Published in:

Genes, 2020, v. 11, n. 4, p. 350, doi. 10.3390/genes11040350

By:

Thanikachalam, Saradadevi;
Hodapp, Elizabeth;
Chang, Ta C.;
Morel Swols, Dayna;
Cengiz, Filiz B.;
Guo, Shengru;
Zafeer, Mohammad F.;
Seyhan, Serhat;
Bademci, Guney;
Scott, William K.;
Grajewski, Alana;
Tekin, Mustafa

Publication type:

Article

DDB1 Regulates Sertoli Cell Proliferation and Testis Cord Remodeling by TGFβ Pathway.

Published in:

Genes, 2019, v. 10, n. 12, p. 974, doi. 10.3390/genes10120974

By:

Zheng, Wei;
Nazish, Jabeen;
Wahab, Fazal;
Khan, Ranjha;
Jiang, Xiaohua;
Shi, Qinghua

Publication type:

Article

Inferior Vena Cava Anomaly: A Risk for Deep Vein Thrombosis.

Published in:

2014

By:

Sitwala, Puja S.;
Ladia, Vatsal M.;
Brahmbhatt, Parag B.;
Jain, Vinay;
Bajaj, Kailash

Publication type:

Case Study

Images in Vascular Medicine: KILT syndrome – deep venous thrombosis, inferior vena caval agenesis, and kidney dysgenesis.

Published in:

Vascular Medicine, 2021, v. 26, n. 5, p. 574, doi. 10.1177/1358863X211014581

By:

Moshref, Arian J;
Moussallem, Elie;
Gray, Bruce H

Publication type:

Article

Novel mutation as a cause of anterior segment dysgenesis leading to blindness in progeny: the genetics decoded!

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00493-7

By:

Pritti, Kumari;
Mishra, Vineet;
Aggarwal, Somesh;
Mistri, Mehul;
Chhetry, Manisha

Publication type:

Article

Congenital Coccygeal Dysgenesis and Rat Tail Syndrome in a Crossbred calf.

Published in:

Intas Polivet, 2018, v. 19, n. 1, p. 81

By:

Kokila, S.;
Rani, R. Uma;
Gopal, K.

Publication type:

Article

CORPUS CALLOSUM DYSGENESIS AND COLPOCEPHALY.

Published in:

2013

By:

Ciurea, Roxana Beatrice;
Mihailescu, Gabriela;
Anton, Ruxandra Maria;
Parvu, Delia;
Nica, Sanda Maria;
Pavel, Georgiana;
Buraga, Ioan;
Popescu, Bogdan O.

Publication type:

Case Study

Maturation and Dysgenesis of the Human Olfactory Bulb.

Published in:

Brain Pathology, 2016, v. 26, n. 3, p. 301, doi. 10.1111/bpa.12275

By:

Sarnat, Harvey B.;
Yu, Weiming

Publication type:

Article

Efficacy of transcranial Direct Current Stimulation (tDCS) combined with intensive speech therapy for language production in monozygotic twins with corpus callosum dysgenesis (CCD): A sham-controlled single subject study.

Published in:

2022

By:

Mousavi, Najva;
Nitsche, Michael A.;
Jahan, Ali;
Nazari, Mohammad Ali;
Hassanpour, Hassan

Publication type:

Case Study

Hyperleptinemia directly affects testicular maturation at different sexual stages in mice, and suppressor of cytokine signaling 3 is involved in this process.

Published in:

Reproductive Biology & Endocrinology, 2014, v. 12, n. 1, p. 1, doi. 10.1186/1477-7827-12-15

By:

Miao Yuan;
Guizhen Huang;
Jun Li;
Jie Zhang;
Fei Li;
Kai Li;
Bo Gao;
Li Zeng;
Wei Shan;
Ping Lin;
Lugang Huang

Publication type:

Article

Male Infertility and the Risk of Developing Testicular Cancer: A Critical Contemporary Literature Review.

Published in:

Medicina (1010660X), 2023, v. 59, n. 7, p. 1305, doi. 10.3390/medicina59071305

By:

Maiolino, Giuseppe;
Fernández-Pascual, Esaú;
Ochoa Arvizo, Mario Alberto;
Vishwakarma, Ranjit;
Martínez-Salamanca, Juan Ignacio

Publication type:

Article

A Fetus with Hemifacial Microsomia and Sirenomelia. The Same Mesodermal Defect Spectrum?

Published in:

Fetal & Pediatric Pathology, 2013, v. 32, n. 2, p. 152, doi. 10.3109/15513815.2012.684846

By:

López-Valdez, Jaime Asael;
Estrada-Juárez, Higinio;
Moreno-Verduzco, Elsa Romelia;
Aguinaga-Ríos, Mónica

Publication type:

Article

Echogenic cavum septi pellucidi is associated with mild callosal dysgenesis on postnatal MRI.

Published in:

Australasian Journal of Ultrasound in Medicine, 2019, v. 22, n. 3, p. 214, doi. 10.1002/ajum.12136

By:

Stanislavsky, Alexandra;
Goergen, Stacy

Publication type:

Article

Subependymal Gray Matter Heterotopia With Seizure in a 6‐Month‐Old Child.

Published in:

2025

By:

Shrestha, Bibek;
Shrestha, Priyesh;
Karn, Vivek;
Ale Magar, Shiva Ram

Publication type:

Case Study

Successful treatment of hemochromatosis with renal tubular dysgenesis in a preterm infant.

Published in:

Clinical Case Reports, 2015, v. 3, n. 8, p. 690, doi. 10.1002/ccr3.306

By:

Koura, Uta;
Horikawa, Shinjiro;
Okabe, Mako;
Kawasaki, Yukako;
Makimoto, Masami;
Mizuta, Koichi;
Yoshida, Taketoshi

Publication type:

Article

Unilateral foveal hypoplasia in a child with bilateral anterior segment dysgenesis.

Published in:

Clinical Case Reports, 2015, v. 3, n. 7, p. 676, doi. 10.1002/ccr3.319

By:

Shields, Rebecca A.;
Cavuoto, Kara M.;
McKeown, Craig A.;
Chang, Ta C.

Publication type:

Article

Low bone mineral density and renal malformation in Mexican patients with Turner syndrome are associated with single nucleotide variants in vitamin D-metabolism genes.

Published in:

Gynecological Endocrinology, 2019, v. 35, n. 9, p. 772, doi. 10.1080/09513590.2019.1582626

By:

Barrientos-Rios, Rehotbevely;
Frias, Sara;
Velázquez-Aragón, José A.;
Villaroel, Camilo E.;
Sánchez, Silvia;
Molina, Bertha;
Martínez, Angélica;
Carnevale, Alessandra;
García-de-Teresa, Benilde;
Bonilla, Edmundo;
Alvarado-Araiza, Christian David;
Valderrama-Hernández, Alejandro;
Ríos-Gallardo, Paul Tadeo;
Calzada-León, Raúl;
Altamirano-Bustamante, Nelly;
Torres, Leda

Publication type:

Article

Placental chorioangioma with Dysgenesis of corpus callosum: A case report.

Published in:

2022

By:

DAĞDEVİREN, Elif;
DOKUZEYLÜL GÜNGÖR, Nur

Publication type:

Case Study

DRAXIN regulates interhemispheric fissure remodelling to influence the extent of corpus callosum formation.

Published in:

eLife, 2021, p. 1, doi. 10.7554/eLife.61618

By:

Morcom, Laura;
Edwards, Timothy J.;
Rider, Eric;
Jones-Davis, Dorothy;
Lim, Jonathan W. C.;
Kok-Siong Chen;
Dean, Ryan J.;
Bunt, Jens;
Yunan Ye;
Gobius, Ilan;
Suárez, Rodrigo;
Mandelstam, Simone;
Sherr, Elliott H.;
Richards, Linda J.

Publication type:

Article

Sexual development dysgenesis in interspecific hybrids of Medaka fish.

Published in:

Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-09314-6

By:

Martinez-Bengochea, A. L.;
Kneitz, S.;
Herpin, A.;
Nóbrega, R. H.;
Adolfi, M. C.;
Schartl, M.

Publication type:

Article

De Novo Partial 13q22-q34 Trisomy with Typical Neurological and Immunological Findings: A Case Report with New Genetic Insights.

Published in:

Brain Sciences (2076-3425), 2021, v. 11, n. 1, p. 21, doi. 10.3390/brainsci11010021

By:

Brogna, Claudia;
Milano, Valentina;
Brogna, Barbara;
Cristiano, Lara;
Rovere, Giuseppe;
De Sanctis, Roberto;
Romeo, Domenico M.;
Mercuri, Eugenio;
Zampino, Giuseppe

Publication type:

Article

Fibrodysplasia ossificans progressiva: Histopathological implications of aberrant bone morphogenic protein signalling for CNS dysgenesis.

Published in:

Neuropathology & Applied Neurobiology, 2022, v. 48, n. 4, p. 1, doi. 10.1111/nan.12805

By:

Tanaka, Hidetomo;
Shimizu, Hiroshi;
Yonemochi, Yosuke;
Ozawa, Tetsuo;
Toyoshima, Yasuko;
Nakajima, Takashi;
Kakita, Akiyoshi

Publication type:

Article

Thyroid Hypoplasia in Congenital Hypothyroidism Associated with Thyroid Peroxidase Mutations.

Published in:

Thyroid, 2018, v. 28, n. 7, p. 941, doi. 10.1089/thy.2017.0502

By:

Stoupa, Athanasia;
Polak, Michel;
Guériouz, Manelle;
Carré, Aurore;
Chaabane, Rim;
Ammar Keskes, Leila;
Belguith, Neila;
Raynaud-Ravni, Catherine;
Nitschke, Patrick;
Bole-Feysot, Christine;
Mnif, Mouna;
Hachicha, Mongia

Publication type:

Article

Demonstration of Autosomal Monoallelic Expression in Thyroid Tissue Assessed by Whole-Exome and Bulk RNA Sequencing.

Published in:

Thyroid, 2016, v. 26, n. 6, p. 852, doi. 10.1089/thy.2016.0009

By:

Magne, Fabien;
Ge, Bing;
Larrivée-Vanier, Stéphanie;
Van Vliet, Guy;
Samuels, Mark E.;
Pastinen, Tomi;
Deladoëy, Johnny

Publication type:

Article

A New PAX8 Mutation Causing Congenital Hypothyroidism in Three Generations of a Family Is Associated with Abnormalities in the Urogenital Tract.

Published in:

Thyroid, 2013, v. 23, n. 9, p. 1074, doi. 10.1089/thy.2012.0649

By:

Carvalho, Ana;
Hermanns, Pia;
Rodrigues, Ana-Luísa;
Sousa, Isabel;
Anselmo, João;
Bikker, Hennie;
Cabral, Rita;
Pereira-Duarte, Carlos;
Mota-Vieira, Luísa;
Pohlenz, Joachim

Publication type:

Article

Two Cases of Thyroid Dysgenesis Caused by Different Novel PAX8 Mutations in the DNA-Binding Region: In Vitro Studies Reveal Different Pathogenic Mechanisms.

Published in:

Thyroid, 2013, v. 23, n. 7, p. 791, doi. 10.1089/thy.2012.0141

By:

Hermanns, Pia;
Grasberger, Helmut;
Cohen, Ronald;
Freiberg, Clemens;
Dörr, Helmuth-Günther;
Refetoff, Samuel;
Pohlenz, Joachim

Publication type:

Article

Increased Ocular Pulse Amplitude Associated with Unilateral Dysgenesis of the Orbital Roof.

Published in:

2015

By:

Vira, ami Shah;
Mahmoud, ashraf M.;
Roberts, Cynthia J.;
Katz, Steven E.

Publication type:

Case Study

Challenges in Surgical Intervention for a Rare Case of Anterior Segment Dysgenesis: A Case Report.

Published in:

2023

By:

Aldawood, Amirah;
Bakri, Sultan;
Alotaibi, Batool

Publication type:

Case Study

The unfolded protein response regulator ATF6 promotes mesodermal differentiation.

Published in:

Science Signaling, 2018, v. 11, n. 517, p. 1, doi. 10.1126/scisignal.aan5785

By:

Kroeger, Heike;
Grimsey, Neil;
Paxman, Ryan;
Chiang, Wei-Chieh;
Plate, Lars;
Jones, Ying;
Shaw, Peter X.;
Trejo, JoAnn;
Tsang, Stephen H.;
Powers, Evan;
Kelly, Jeffery W.;
Wiseman, R. Luke;
Lin, Jonathan H.

Publication type:

Article

Cavitary anomalies of the optic disc: Different entities or part of a single spectrum of disease?

Published in:

Oman Journal of Ophthalmology, 2014, v. 7, n. 2, p. 53, doi. 10.4103/0974-620X.137137

By:

Ganesh, Anuradha

Publication type:

Article

Clinical utility of chromosomal microarray analysis and whole exome sequencing in foetuses with oligohydramnios.

Published in:

Annals of Medicine, 2023, v. 55, n. 1, p. 1, doi. 10.1080/07853890.2023.2215539

By:

Shi, Xiaomei;
Ding, Hongke;
Li, Chen;
Liu, Ling;
Yu, LiHua;
Zhu, Juan;
Wu, Jing

Publication type:

Article

The Ambiguous Role of NKX2-5 Mutations in Thyroid Dysgenesis.

Published in:

PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0052685

By:

van Engelen, Klaartje;
Mommersteeg, Mathilda T. M.;
Baars, Marieke J. H.;
Jan Lam;
Ilgun, Aho;
van Trotsenburg, A. S. Paul;
Smets, Anne M. J. B.;
Christoffels, Vincent M.;
Mulder, Barbara J. M.;
Postma, Alex V.

Publication type:

Article