Works matching DE "AGENESIS of corpus callosum"

Results: 1170

Utility of fetal MRI for workup of fetal central nervous system anomalies in an Australian maternal-fetal medicine cohort.

Published in:

Australian & New Zealand Journal of Obstetrics & Gynaecology, 2016, v. 56, n. 3, p. 267, doi. 10.1111/ajo.12440

By:

Irwin, Kathryn;
Henry, Amanda;
Gopikrishna, Saranya;
Taylor, Jeanette;
Welsh, Alec W.

Publication type:

Article

Neurosurgical intervention for the Meckel-Gruber Syndrome: A systematic review.

Published in:

Child's Nervous System, 2024, v. 40, n. 7, p. 2161, doi. 10.1007/s00381-024-06346-3

By:

Junior, Jefferson Heber Marques Fontes;
Junior, Silvio Porto;
Pustilnik, Hugo Nunes;
de Almeida Leão, Leonardo;
da Paz, Matheus Gomes da Silva;
Araujo, Taiane Brito;
de Deus, Fernanda Oliveira Gonçalves;
Alcântara, Tancredo;
Dourado, Jules Carlos;
de Avellar, Leonardo Miranda

Publication type:

Article

Long-term outcomes in sacral agenesis.

Published in:

Child's Nervous System, 2024, v. 40, n. 6, p. 1791, doi. 10.1007/s00381-024-06326-7

By:

Thomson, Calum;
Mahmood, Amun;
Yun, Sung Min;
Hartley, Laura;
Botchu, Rajesh;
Mohmoud, Khalid;
Sewell, Mathew;
Mehta, Jwalant

Publication type:

Article

An unusual presentation of de novo RAC3 variation in prenatal diagnosis.

Published in:

Child's Nervous System, 2024, v. 40, n. 5, p. 1597, doi. 10.1007/s00381-024-06285-z

By:

Meunier, Colombine;
Cassart, Marie;
Kostyla, Karole;
Simonis, Nicolas;
Monestier, Olivier;
Tessier, Aude

Publication type:

Article

Syndrome of megalencephaly, mega corpus callosum, and complete lack of motor development: an unusual case and a literature review.

Published in:

2024

By:

Cetin, Eda Beykoz;
Bilgici, Meltem Necibe Ceyhan;
Tuncer, Gökcen Oz;
Karabag, Irem Sari;
Aydin, Seren

Publication type:

Case Study

The outcome of surgical management for the patient with giant occipital encephalocele: a case illustration and systematic review.

Published in:

Child's Nervous System, 2023, v. 39, n. 8, p. 2161, doi. 10.1007/s00381-023-05934-z

By:

Yindeedej, Vich;
Sungpapan, Ruksakul;
Duangprasert, Gahn;
Noiphithak, Raywat

Publication type:

Article

Acquired hump of the corpus callosum: a rare morphologic complication after CSF shunting.

Published in:

Child's Nervous System, 2023, v. 39, n. 5, p. 1253, doi. 10.1007/s00381-023-05875-7

By:

Simsek, Onur;
Alves, César Augusto Pinheiro Ferreira;
Andronikou, Savvas

Publication type:

Article

The use of stereotactic MRI-guided laser interstitial thermal therapy for the treatment of pediatric cavernous malformations: the SUNY Upstate Golisano Children's Hospital experience.

Published in:

Child's Nervous System, 2023, v. 39, n. 2, p. 417, doi. 10.1007/s00381-022-05701-6

By:

De Witt, Michelle Elizabeth;
Almaguer-Ascencio, Monserrat;
Petropoulou, Kalliopi;
Tovar-Spinoza, Zulma

Publication type:

Article

Polymicrogyria, aventriculy, polydactyly, encephalocele, callosal agenesis (PAPEC): a new syndrome?

Published in:

2022

By:

Kelani, A. B.;
Sanoussi, S.;
Mamadou, M. Garba;
Catala, M.

Publication type:

Case Study

Agenesis of the right internal carotid artery and aqueductal stenosis in a child with hydrocephalus, the role of endoscopic third ventriculostomy: a case report.

Published in:

Child's Nervous System, 2022, v. 38, n. 8, p. 1631, doi. 10.1007/s00381-022-05470-2

By:

Vázquez-Gregorio, Rafael;
Jiménez-Guerra, Rolando;
Cano-Nigenda, Vanessa;
Garfias-Rau, Yair

Publication type:

Article

Multisystem disease including stroke, epilepsy, dystonia, noncompaction, and kidney agenesis requires genetic work-up.

Published in:

2020

By:

Finsterer, Josef

Publication type:

Letter

Isolated left ventricular non-compaction with moyamoya syndrome and renal agenesis—a rare association and a rare cause of recurrent stroke in a young boy.

Published in:

2020

By:

Kadwa, Razia Adam;
Nair, Anupama K.

Publication type:

Letter

Complete absence of the roof of the third ventricle in a case of hydrocephalus: an endoscopic view.

Published in:

2016

By:

Habibi, Zohreh;
Heidari, Vahid;
Mahmoodi, Ramin;
Nejat, Farideh

Publication type:

Letter

Learning curve for total thoracoscopic segmentectomy in treating pediatric patients with congenital lung malformation.

Published in:

Surgical Endoscopy & Other Interventional Techniques, 2023, v. 37, n. 7, p. 5129, doi. 10.1007/s00464-023-09987-8

By:

He, Taozhen;
Sun, Xiaoyan;
Liu, Chenyu;
Yuan, Miao;
Yang, Gang;
Cheng, Kaisheng;
Dai, Shiyi;
Xu, Chang

Publication type:

Article

Physiological Mechanisms of Visual Nonverbal Memory in 6-Year-Old Children.

Published in:

Bulletin of Experimental Biology & Medicine, 2015, v. 159, n. 5, p. 588, doi. 10.1007/s10517-015-3019-1

By:

Medvedev, I.;
Nikishina, N.

Publication type:

Article

Severe Phenotype in Patients with X-linked Hydrocephalus Caused by a Missense Mutation in L1CAM.

Published in:

Turkish Archives of Pediatrics, 2022, v. 57, n. 5, p. 521, doi. 10.5152/TurkArchPediatr.2022.22070

By:

Tüysüz, Beyhan;
Ercan-Sençicek, Adife Gülhan;
Özer, Emre;
Göç, Nükte;
Yalçınkaya, Cengiz;
Bilguvar, Kaya

Publication type:

Article

Pericardial agenesis: a case report of a rare congenital heart disease.

Published in:

European Heart Journal Case Reports, 2024, v. 8, n. 4, p. 1, doi. 10.1093/ehjcr/ytae200

By:

Trimarchi, Giancarlo;
Zito, Concetta;
Pelaggi, Giuseppe;
Carerj, Scipione;
Bella, Gianluca Di

Publication type:

Article

Field performance of bacterial inoculants to alleviate water stress effects in wheat (Triticum aestivum L.).

Published in:

Plant & Soil, 2019, v. 441, n. 1/2, p. 261, doi. 10.1007/s11104-019-04115-9

By:

Chandra, Dinesh;
Srivastava, Rashmi;
Gupta, Vadakattu V. S. R.;
Franco, Christopher M. M.;
Paasricha, Nishat;
Saifi, Shabnam K.;
Tuteja, Narendra;
Sharma, Anil Kumar

Publication type:

Article

Primary versus secondary intraocular lens implantation following removal of congenital/developmental cataracts: outcomes after at least 4 years.

Published in:

Turkish Journal of Medical Sciences, 2023, v. 53, n. 1, p. 77, doi. 10.55730/1300-0144.5560

By:

KAPLAN, Ayşin Tuba;
ÖSKAN YALÇIN, Sibel;
ORAL AYDIN, Ayşe Yeşim

Publication type:

Article

Etiological, clinical, and laboratory evaluation of congenital hypothyroidism and determination of levothyroxine (LT4) dose at treatment interruption in differentiating permanent vs. transient patients.

Published in:

Turkish Journal of Medical Sciences, 2022, v. 52, n. 6, p. 1863, doi. 10.55730/1300-0144.5533

By:

DÜNDAR, İsmail;
BÜYÜKAVCI, Mehmet Akif;
ÇİFTÇİ, Nurdan

Publication type:

Article

Magnetic resonance imaging findings in COVID-19-related anosmia.

Published in:

Turkish Journal of Medical Sciences, 2022, v. 52, n. 5, p. 1506, doi. 10.55730/1300-0144.5490

By:

ÇETİN, Hüseyin;
ATEŞ, Ayşe Şule;
TAYDAŞ, Ogün;
ELMAS, Bahri;
GÜÇLÜ, Ertuğrul

Publication type:

Article

Investigation of the most common clinical and imaging findings and the role of tubulin genes in the etiology of malformations of cortical development.

Published in:

Turkish Journal of Medical Sciences, 2020, v. 50, n. 6, p. 1573, doi. 10.3906/sag-1901-170

By:

KILIÇARSLAN, Özge AKSEL;
ATAMAN, Esra;
GÜRSOY, Semra;
GÜRBÜZ, Gürkan;
ÜNALP, Aycan;
GENÇPINAR, Pınar;
DÜNDAR, Nihal OLGAÇ;
EDİZER, Selvinaz;
ÜLGENALP, Ayfer;
BOZKAYA, Özlem GİRAY

Publication type:

Article

A-157 G Syndrome in Adulthood: A Case Report.

Published in:

2022

By:

Scull, Sara;
Marschall, Kelsea P;
Plotnik, Lisa;
Stark, Aleksandra;
Thorp, Karen;
McLaren, Jennifer;
Lichtenstein, Jonathan D

Publication type:

Case Study

Appreciation of Social Norms in Agenesis of the Corpus Callosum.

Published in:

Archives of Clinical Neuropsychology, 2021, n. 7, p. 1367, doi. 10.1093/arclin/acab003

By:

Brown, Warren S;
Burnett, Karissa A;
Vaillancourt, Ashley;
Paul, Lynn K

Publication type:

Article

A-27 A Pediatric Case Study of Neurodevelopmental Disorder Associated with Complete Agenesis of the Corpus Callosum.

Published in:

Archives of Clinical Neuropsychology, 2021, v. 36, n. 6, p. 1068, doi. 10.1093/arclin/acab062.45

By:

Norris, Courtney L;
Smith, Alphonso

Publication type:

Article

A-059 Gender-Related Behavioral Differences in Children with Partial or Complete Agenesis of the Corpus Callosum: Exploring Attention, Rule Breaking, and Aggressive Behaviors.

Published in:: 2020
Publication type:: Abstract

B-48 Agenesis of the Corpus Callosum: Context Matters.

Published in:

Archives of Clinical Neuropsychology, 2014, v. 29, n. 6, p. 554, doi. 10.1093/arclin/acu038.136

By:

Klein, R;
Hopewell, A;
Muniz, D;
Sharieff, A

Publication type:

Article

Pituitary hypoplasia and growth hormone deficiency in a patient with Coffin-Siris syndrome and severe short stature: case report and literature review.

Published in:

2022

By:

Bilha, Stefana Catalina;
Teodoriu, Laura;
Velicescu, Cristian;
Caba, Lavinia

Publication type:

Case Study

The International Congress of Pathology & Laboratory Medicine 2023: Precision Medicine: Revolutionizing Pathology in Genomic Era, organised by the College of Pathologists, Academy of Medicine of Malaysia and at World Trade Centre Kuala Lumpur on 20-22 September 2023

Published in:: Malaysian Journal of Pathology, 2023, v. 45, n. 3, p. 481
Publication type:: Article

Prospects for limiting access to prenatal genetic information about Down syndrome in light of the expansion of prenatal genomics.

Published in:

New Bioethics, 2023, v. 29, n. 3, p. 226, doi. 10.1080/20502877.2022.2130720

By:

Kaposy, Chris

Publication type:

Article

Post-meiotic mechanism of facultative parthenogenesis in gonochoristic whiptail lizard species.

Published in:

eLife, 2024, p. 1, doi. 10.7554/eLife.97035

By:

Ho, David V.;
Tormey, Duncan;
Odell, Aaron;
Newton, Aracely A.;
Schnittker, Robert R.;
Baumann, Diana P.;
Neaves, William B.;
Schroeder, Morgan R.;
Sigauke, Rutendo F.;
Barley, Anthony J.;
Baumann, Peter

Publication type:

Article

Unexpected complexity in the molecular diagnosis of spastic paraplegia 11.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 6, p. 1, doi. 10.1002/mgg3.2475

By:

Mademont‐Soler, Irene;
Esteba‐Castillo, Susanna;
Jiménez‐Xifra, Aida;
Alemany, Berta;
Ribas‐Vidal, Núria;
Cutillas, Maria;
Coll, Mònica;
Pinsach, Mel·lina;
Pagans, Sara;
Alcalde, Mireia;
Viñas‐Jornet, Marina;
Montero‐Vale, Mercedes;
de Castro‐Miró, Marta;
Rodríguez, Jairo;
Armengol, Lluís;
Queralt, Xavier;
Obón, María

Publication type:

Article

Auriculocondylar syndrome 2 caused by a novel PLCB4 variant in a male Chinese neonate: A case report and review of the literature.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 4, p. 1, doi. 10.1002/mgg3.2441

By:

Zhang, Yongli;
Zhao, Yuwei;
Dai, Liying;
Liu, Yu;
Shi, Zifeng

Publication type:

Article

Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 4, p. 1, doi. 10.1002/mgg3.2430

By:

Cho, Jun Hee;
Hwang, Soojin;
Kwak, Yoon Hae;
Yum, Mi‐Sun;
Seo, Go Hun;
Koh, June‐Young;
Ju, Young Seok;
Yoon, Ji‐Hee;
Kang, Minji;
Do, Hyo‐Sang;
Kim, Soyoung;
Kim, Gu‐Hwan;
Bae, Hyunwoo;
Lee, Beom Hee

Publication type:

Article

Initial clinical and molecular investigation of 20q13.33 microdeletion with 17q25.3/14q32.31q32.33 microduplication in Chinese pediatric patients.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 4, p. 1, doi. 10.1002/mgg3.2429

By:

Zhuang, Jianlong;
Zhang, Na;
Wang, Junyu;
Jiang, Yuying;
Zhang, Hegan;
Chen, Chunnuan

Publication type:

Article

Okur‐Chung neurodevelopmental syndrome: Implications for phenotype and genotype expansion.

Published in:

2024

By:

Nan, Haitian;
Chu, Min;
Zhang, Jing;
Jiang, Deming;
Wang, Yihao;
Wu, Liyong

Publication type:

Case Study

Type 1 early infantile epileptic encephalopathy: A case report and literature review.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 2, p. 1, doi. 10.1002/mgg3.2412

By:

Zaker, Erfan;
Nouri, Negar;
Movahedinia, Mojtaba;
Dadbinpour, Ali;
Vahidi Mehrjardi, Mohammad Yahya

Publication type:

Article

Compound heterozygous mutations in CFTR causing congenital bilateral absence of the vas deferens in a Chinese pedigree.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2364

By:

Li, Lingyi;
Qu, Xiaowei;
Cui, Chenchen;
Feng, Ke;
Xia, Yanqing;
Wan, Feng;
Ge, Hengtao;
Fang, Yinghong;
Zhang, Cuilian;
Guo, Haibin

Publication type:

Article

Clinical report and genetic analysis of a Chinese patient with developmental and epileptic encephalopathy associated with novel biallelic variants in the ST3GAL3 gene.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2322

By:

Hu, Jihong;
Liu, Juan;
Guo, Chunguang;
Duan, Yaqin;
Liu, Chunlei;
Tan, Yaqiong;
Pan, Ying

Publication type:

Article

A case of congenital cataracts with hypotrichosis caused by compound heterozygous variants in the LSS gene.

Published in:

2024

By:

Tan, Yu;
Tian, Huan;
Mai, Jingqun;
Wang, He;
Yang, Mei;
Liu, Shanling

Publication type:

Case Study

A further case of AFG2B‐related neurodevelopmental disorder with hearing loss and microcephaly allows further clarification of pathogenicity of the variant c.1313T>C, p.(Leu438Pro).

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2310

By:

Grosch, Sarah;
Kehrer, Martin;
Riess, Olaf;
Bevot, Andrea;
Haack, Tobias B.

Publication type:

Article

Hearing characteristics and otoradiological abnormalities in three patients with novel pathogenic variants of KMT2D‐related Kabuki syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2306

By:

Zheng, Zhoushu;
Ding, Lu;
Wang, Meihong;
Zhang, Yinghui;
Yang, Yihui;
Tang, Ming;
Xu, Jun;
Wang, Liangjiong;
Wu, Junhua;
Li, Haibo

Publication type:

Article

Clinical analysis of Gabriele‐de Vries caused by YY1 mutations and literature review.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2281

By:

Yang, Jingjing;
Yu, Chaonan;
Lyn, Nan;
Liu, Lei;
Li, Dongxiao;
Shang, Qing

Publication type:

Article

Clinical report and genetic analysis of a Chinese neonate with craniofacial microsomia caused by a splicing variant of the splicing factor 3b subunit 2 gene.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2268

By:

Zhang, Yongli;
Bi, Shaohua;
Dai, Liying;
Zhao, Yuwei;
Liu, Yu;
Shi, Zifeng

Publication type:

Article

Clinical heterogeneity of polish patients with KAT6B–related disorder.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2265

By:

Magdalena, Klaniewska;
Anna, Bolanowska‐Tyszko;
Anna, Latos‐Bielenska;
Aleksandra, Jezela‐Stanek;
Krzysztof, Szczaluba;
Malgorzata, Krajewska‐Walasek;
Elzbieta, Ciara;
Magdalena, Pelc;
Dorota, Jurkiewicz;
Piotr, Stawinski;
Agnieszka, Zubkiewicz‐Kucharska;
Małgorzata, Rydzanicz;
Rafal, Ploski;
Robert, Smigiel

Publication type:

Article

A deleterious frameshift insertion mutation in the ZNF142 gene leads to intellectual developmental disorder with impaired speech in three affected siblings: Clinical features and literature review.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2261

By:

Mir, Atefeh;
Song, Yongjun;
Lee, Hane;
Montazer‐Zohouri, Mostafa;
Reisi, Marziyeh;
Tabatabaiefar, Mohammad Amin

Publication type:

Article

Clinical report and genetic analysis of a neonate with genitourinary and/or brain malformation syndrome caused by a non‐coding sequence variant of PPP1R12A.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 10, p. 1, doi. 10.1002/mgg3.2223

By:

Diao, Yanxia;
Sun, Weiwei;
Zhang, Zhen;
Zhao, Bing;
Chen, Xin

Publication type:

Article

Diagnosis of Menke‐Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs.

Published in:

2023

By:

Cogan, Guillaume;
Bourgon, Nicolas;
Borghese, Roxana;
Julien, Emmanuel;
Jaquette, Aurélia;
Stos, Bertrand;
Achaiaa, Amale;
Chuon, Sophie;
Nitschke, Patrick;
Fourrage, Cécile;
Stirnemann, Julien;
Boutaud, Lucile;
Attie‐Bitach, Tania

Publication type:

Case Study

Mutational spectrum in a Chinese cohort with congenital cataracts.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 9, p. 1, doi. 10.1002/mgg3.2196

By:

Liu, Hong‐Li;
Zhang, Dao‐Wei;
Hu, Fang‐Yuan;
Xu, Ping;
Zhang, Sheng‐Hai;
Wu, Ji‐Hong

Publication type:

Article

Novel heterozygous variants in the EP300 gene cause Rubinstein–Taybi syndrome 2: Reports from two Chinese children.

Published in:

2023

By:

Du, Caiqi;
Li, Zhuoguang;
Zou, Biao;
Li, Xuesong;
Chen, Fan;
Liang, Yan;
Luo, Xiaoping;
Shu, Sainan

Publication type:

Case Study