Sökresultat - "Multiple congenital anomalies"

Heterozygous deletion of 10q24.31-q24.33– a new syndrome associated with multiple congenital anomalies: case report and literature review

Anastasiia A. Buianova, Yulia S. Lashkova, Tatiana V. Kulichenko, Ivan S. Kuznetsov, Artem A. Ivanov, Olga P. Parshina, Oleg N. Suchalko, Svetlana S. Vakhlyarskaya, Dmitriy O. Korostin

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Congenital Anomalies in Neonates: Findings from Six Baghdad Hospitals

Bassam M. Al-Musawi, Ali M. Khalid, Nadin A. Kamal, Maha Z. Muneer

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Caring for Children with Trisomy 18 in the Primary Care Setting

Ramsey, Ann Marie ^∗, Nichols, Lauren

Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations

Guillouet, Charlotte ¹, Agostini, Valeria ¹, Baujat, Geneviève ², Cocciadiferro, Dario ³, Pippucci, Tommaso ⁴, Lesieur-Sebellin, Marion ¹, Georget, Mathieu ¹, Schatz, Ulrich ^{5, 35}, Fauth, Christine ⁵, Louie, Raymond J. ⁶, Rogers, Curtis ⁶, Davis, Jessica M. ⁶, Konstantopoulou, Vassiliki ⁷, Mayr, Johannes A. ⁸, Bouman, Arjan ⁹, Wilke, Martina ⁹, VanNoy, Grace E. ¹⁰, England, Eleina M. ¹⁰, Park, Kristen L. ¹¹, Brown, Kathleen ¹², Saenz, Margarita ¹², Novelli, Antonio ³, Digilio, Maria Cristina ¹³, Mastromoro, Gioia ¹⁴, Rongioletti, Mauro Ciro Antonio ¹⁴, Piacentini, Gerardo ¹⁵, Kaiyrzhanov, Rauan ^{16, 17}, Guliyeva, Sughra ¹⁸, Hasanova, Lala ¹⁹, Shears, Deborah ²⁰, Bhatnagar, Ishita ²⁰, Stals, Karen ²¹, Klaas, Oliver ²², Horvath, Judit ²², Bouvagnet, Patrice ^{38, 39}, Witmer, P. Dane ²³, MacCarrick, Gretchen ²³, Cisarova, Katarina ³⁶, Good, Jean-Marc ²⁴, Gorokhova, Svetlana ^{25, 26}, Boute, Odile ²⁷, Smol, Thomas ²⁷, Bruel, Ange-Line ^{28, 29}, Patat, Olivier ³⁰, Broadbent, Julia R. ³¹, Tan, Tiong Y. ^{31, 32, 33}, Tan, Natalie B. ³³, Lyonnet, Stanislas ^{1, 2}, Busa, Tiffany ²⁶, Graziano, Claudio ³⁴, Amiel, Jeanne ^{1, 2}, Gordon, Christopher T. ^{1, ∗}

Comprehensive review and outline of genotypes and phenotypes of Arboleda-Tham syndrome spectrum: insights from novel variants

Bayat, Sahar, Gholami, Milad, Khodadadi, Hamidreza, Ghazavi, Mohammadreza, Nasiri, Jafar^{Aff4, Aff5}, Kheirollahi, Majid^{Aff1, IDs1103302510302y_cor1}

The correlation between multiple congenital anomalies hypotonia seizures syndrome 2 and PIGA: a case of novel PIGA germline variant and literature review

Liu, Xiangyu, Meng, Jing^{Aff2, Aff3}, Ma, Jinhui^{Aff2, Aff3, Aff4}, Shu, Jianbo^{Aff2, Aff5}, Gu, Chunyu^{Aff2, Aff6}, Chen, Xiaofang^{Aff2, Aff6}, Li, Dong^{Aff2, Aff3, IDs11033022076148_cor7}, Cai, Chunquan^{Aff2, Aff5, Aff7, IDs11033022076148_cor8}

Damaging novel mutations in PIGN cause developmental epileptic-dyskinetic encephalopathy: a case report

Maoqiang Tian, Jing Chen, Juan Li, Hong Pan, Wenting Lei, Xiaomei Shu

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Utility of whole‐exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia population

Rai‐Hseng Hsu, Chen‐Hao Lee, Yin‐Hsiu Chien, Shuan‐Pei Lin, Miao‐Zi Hung, Nai‐Chi Chen, Yi‐Lin Lin, Wuh‐Liang Hwu, Ni‐Chung Lee

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Mayer-Rokitansky-Küster-Hauser syndrome with 22q11.21 microduplication: a case report

Domenico Dell’Edera, Arianna Allegretti, Mario Ventura, Ludovica Mercuri, Angela Mitidieri, Giacinto Cuscianna, Annunziata Anna Epifania, Elisena Morizio, Melissa Alfonsi, Paolo Guanciali-Franchi

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Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding

Maini, Ilenia^{Aff1, Aff2}, Errichiello, Edoardo, Caraffi, Stefano Giuseppe, Rosato, Simonetta, Bizzarri, Veronica, Pollazzon, Marzia, Trimarchi, Gabriele, Contrò, Gianluca, Cavirani, Benedetta^{Aff1, Aff4}, Gelmini, Chiara, Napoli, Manuela, Moratti, Claudio, Pascarella, Rosario, Rizzi, Susanna, Fusco, Carlo, Zuffardi, Orsetta, Garavelli, Livia^Aff1

Cost-effectiveness of genome-wide sequencing for unexplained developmental disabilities and multiple congenital anomalies

Li, Chunmei^Aff1, Vandersluis, Stacey, Holubowich, Corinne, Ungar, Wendy J.^{Aff2, Aff3}, Goh, Elaine S., Boycott, Kym M., Sikich, Nancy, Dhalla, Irfan^{Aff1, Aff6}, Ng, Vivian

Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants

Sjors Middelkamp, Judith M. Vlaar, Jacques Giltay, Jerome Korzelius, Nicolle Besselink, Sander Boymans, Roel Janssen, Lisanne de la Fonteijne, Ellen van Binsbergen, Markus J. van Roosmalen, Ron Hochstenbach, Daniela Giachino, Michael E. Talkowski, Wigard P. Kloosterman, Edwin Cuppen

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PIGN-Related Disease in Two Lithuanian Families: A Report of Two Novel Pathogenic Variants, Molecular and Clinical Characterisation

Evelina Siavrienė, Živilė Maldžienė, Violeta Mikštienė, Gunda Petraitytė, Tautvydas Rančelis, Justas Dapkūnas, Birutė Burnytė, Eglė Benušienė, Aušra Sasnauskienė, Jurgita Grikinienė, Eglė Griškevičiūtė, Algirdas Utkus, Eglė Preikšaitienė

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Additive Diagnostic Yield of Homozygosity Regions Identified During Chromosomal microarray Testing in Children with Developmental Delay, Dysmorphic Features or Congenital Anomalies

Ali, Mohamed A. M.^{Aff1, IDs10528019099313_cor1}, Hassan, Abdelrahman M., Saafan, Mosaab A., Abdelmagid, Adel A.

Epidemiology of Multiple Congenital Anomalies Before and After Implementation of a Nationwide Prenatal Screening Program in Denmark

Marlene E. Toxværd, Ester Garne

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