Works matching IS 15524825 AND DT 2025 AND VI 197 AND IP 3

Results: 34

Coffin‐Siris Syndrome and Unusual Angiogenic Profiles in Pregnancy: A Case Study Emphasizing Caution in Interpreting a Very Low sFlt‐1/PlGF Ratio.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 3, p. 1, doi. 10.1002/ajmg.a.63939
By:
- Giardini, Valentina;
- Pelucchi, Arianna;
- Daolio, Cecilia;
- Casati, Marco;
- Vergani, Patrizia;
- Lattuada, Martina;
- Locatelli, Anna
Publication type:
Article
Insights From a Novel Splicing Variant and Recurrent Arginine Variants in the CHD3 Gene Causing Snijders Blok–Campeau Syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 3, p. 1, doi. 10.1002/ajmg.a.63930
By:
- Tie, Xiaoling;
- Che, Fengyu;
- Liu, Siting;
- Mo, Lidangzhi;
- Zhang, Liyu;
- Li, Benchang;
- Yang, Ying
Publication type:
Article
Successful Pregnancy Outcome With Preconception Care in a Symptomatic Carrier of Duchenne Muscular Dystrophy: Case Report and Literature Review.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 3, p. 1, doi. 10.1002/ajmg.a.63926
By:
- Kinugawa, Motoaki;
- Ichinose, Mari;
- Matsui, Haruka;
- Xiang, Zeng;
- Sayama, Seisuke;
- Toshimitsu, Masatake;
- Seyama, Takahiro;
- Masuda, Hitomi;
- Matsui, Hikoro;
- Kumasawa, Keiichi;
- Iriyama, Takayuki;
- Hirota, Yasushi;
- Osuga, Yutaka
Publication type:
Article
A second RUBCN variant associated with epileptic encephalopathy and neurodevelopmental delay.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 3, p. 1, doi. 10.1002/ajmg.a.63937
By:
- Magalie, Lodin‐Pasquier;
- Yline, Capri;
- Olivier, Patat;
- Blandine, Dozières‐Puyravel;
- Nathalie, Couque
Publication type:
Article
Hailey‐Hailey Disease Caused by a Novel Deep Intronic Variant in ATP2C1.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 3, p. 1, doi. 10.1002/ajmg.a.63933
By:
- Blechingberg, Jenny;
- Terkelsen, Thorkild;
- Jensen, Uffe Birk;
- Rønholt, Kirsten;
- Sommerlund, Mette;
- Vinter, Hanne;
- Graversen, Lise
Publication type:
Article
Optical Genome Mapping (OGM) Identifies Multiple Structural Variants in a Case With Atypical Phelan‐McDermid Syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 3, p. 1, doi. 10.1002/ajmg.a.63929
By:
- Macke, Erica L.;
- Miller, Anthony R.;
- Colwell, Caitlyn M.;
- Gonzalez, Maria Hernandez;
- Hunter, Jesse;
- Venkata, Lakshmi Prakruthi Rao;
- Walker, Lauren;
- Wheeler, Gregory;
- Wilson, Richard K.;
- Mardis, Elaine R.;
- Miller, Katherine E.;
- Mathew, Mariam T.;
- Chaudhari, Bimal P.;
- Akkari, Yassmine
Publication type:
Article
Expanding the Molecular and Clinical Phenotype of Patients With De Novo Variants in KIF5C: A Six Patient Case Series.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 3, p. 1, doi. 10.1002/ajmg.a.63927
By:
- Gracie, Sara;
- Deshpande, Prasannakumar;
- Hollos, Patrik;
- De Dios, Karl;
- Martin, Donna M.;
- Pritchard, Amanda B.;
- Scott Schwoerer, Jessica A.;
- Behrmann, Meghan R.;
- Seaver, Laurie H.;
- Brown, Kathleen;
- Fernandez, Raymond J.;
- Larson, Austin;
- Coffey, Eleanor
Publication type:
Article
The Glu86 Residue in TBX4 Proves Critical for Human Lung Development.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 3, p. 1, doi. 10.1002/ajmg.a.63936
By:
- Szafranski, Przemyslaw;
- Gambin, Tomasz;
- Deutsch, Gail;
- Nassef, Salma A.;
- Bailey, Mary Clay;
- Kearney, Debra L.;
- Stankiewicz, Paweł
Publication type:
Article
Structural Variants in COL1A1 and COL1A2 in Osteogenesis Imperfecta.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 3, p. 1, doi. 10.1002/ajmg.a.63935
By:
- Batkovskyte, Dominyka;
- Swolin‐Eide, Diana;
- Hammarsjö, Anna;
- Sæther, Kristine Bilgrav;
- Thunström, Sofia;
- Lundin, Johanna;
- Eisfeldt, Jesper;
- Lindstrand, Anna;
- Nordgren, Ann;
- Åström, Eva;
- Grigelioniene, Giedre
Publication type:
Article
Ring Chromosome 17 Syndrome—A Case Report and Discussion of Diagnostic Methods.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 3, p. 1, doi. 10.1002/ajmg.a.63925
By:
- Kim, Sun Young;
- Wohler, Elizabeth;
- Gutierrez, Maria Jimena;
- Sadreameli, Christy;
- Kossoff, Eric;
- Sobreira, Nara Lygia
Publication type:
Article
Expanding the Genetic and Phenotypic Spectrum of Mowat‐Wilson Syndrome: A Study of 10 Turkish Patients With an Intrafamilial Recurrence Caused by First Intragenic Large Deletion.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 3, p. 1, doi. 10.1002/ajmg.a.63922
By:
- Kablan, Ahmet;
- Aru, Esma Ertürkmen;
- Atar, Süleyman;
- Gumus, Aydeniz Aydin;
- İli, Ezgi Gökpınar;
- Kayhan, Gulsum;
- Tekin, Koray;
- Silan, Fatma
Publication type:
Article
Cyclic Vomiting Syndrome in Patients Affected by Jansen–de Vries Syndrome: Results From an International Survey.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 3, p. 1, doi. 10.1002/ajmg.a.63918
By:
- Pizzol, A.;
- Adams, K. A.;
- de Vries, B. B. A.;
- Curry, C. J.;
- Calvo, P. L.
Publication type:
Article
CTNND1‐Related Disorder: New Insight on Prenatal Phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 3, p. 1, doi. 10.1002/ajmg.a.63921
By:
- Conti, B.;
- Di Napoli, C.;
- Hafdaoui, S.;
- Nicotra, V.;
- Cesaretti, C.;
- Runza, L.;
- Accurti, V.;
- Boito, S.;
- Iascone, M.;
- Marchetti, D.;
- Silipigni, R.;
- Finelli, P.;
- Natacci, F.
Publication type:
Article
Recurrent Increased Nuchal Translucency Led to the Identification of Novel NUP107 Variants.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 3, p. 1, doi. 10.1002/ajmg.a.63920
By:
- Atallah, Isis;
- Cisarova, Katarina;
- Guenot, Cécile;
- Dubruc, Estelle;
- Superti‐Furga, Andrea;
- Campos‐Xavier, Belinda;
- Unger, Sheila
Publication type:
Article
ARSA Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish Ancestry.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 3, p. 1, doi. 10.1002/ajmg.a.63919
By:
- Rabin, Rachel;
- Hirsch, Yoel;
- Booth, Kevin T. A.;
- Hall, Patricia L.;
- Yachelevich, Naomi;
- Mistry, Pramod K.;
- Ekstein, Josef;
- Pappas, John
Publication type:
Article
Identification and Characterization of Novel FSHR Copy Number Variations Causing Premature Ovarian Insufficiency.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 3, p. 1, doi. 10.1002/ajmg.a.63924
By:
- Lokchine, Anna;
- Bergougnoux, Anne;
- Servant, Nadège;
- Akloul, Linda;
- Launay, Erika;
- Mary, Laura;
- Cluzeau, Laurence;
- Philippe, Mathieu;
- Domin‐Bernhard, Mathilde;
- Duros, Solène;
- Odent, Sylvie;
- Tucker, Elena;
- Paris, Françoise;
- Belaud‐Rotureau, Marc‐Antoine;
- Jaillard, Sylvie
Publication type:
Article
Delayed Diagnosis of Spinal Muscular Atrophy in Two Chinese Families due to Novel SMN1 Deletions.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 3, p. 1, doi. 10.1002/ajmg.a.63917
By:
- Dong, Yan;
- Zhang, Shuyue;
- Wang, Hong;
- Jia, Xiaodong;
- Yu, Changshun;
- Li, Weiran;
- Ma, Ximeng;
- Yu, Xiaoli;
- Li, Dong;
- Shu, Jianbo;
- Cai, Chunquan
Publication type:
Article
Characterizing and Evaluating the Structures of Combined Pediatrics and Medical Genetics and Genomics Residency Programs.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 3, p. 1, doi. 10.1002/ajmg.a.63916
By:
- Niehaus, Annie D.;
- Stevenson, David A.
Publication type:
Article
Recurrent Xp22.31‐Yq11 Unbalanced Translocations: Molecular Diagnosis and Clinical Implications in Three Families.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 3, p. 1, doi. 10.1002/ajmg.a.63913
By:
- Daghsni, Marwa;
- Sheehan, Elizabeth;
- Madan‐Khetarpal, Suneeta;
- Aarabi, Mahmoud;
- Witchel, Selma F.;
- Rajkovic, Aleksandar;
- Yatsenko, Svetlana A.
Publication type:
Article
SOS1‐Related Noonan Syndrome and Sudden Cardiac Arrest in the Absence of Cardiomyopathy—An Arrhythmia Phenotype?
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 3, p. 1, doi. 10.1002/ajmg.a.63912
By:
- Cirelli, Michael A.;
- Wackel, Philip;
- Javed, Rabia;
- Gavrilova, Ralitza;
- Qureshi, M. Yasir;
- Dearani, Joseph A.;
- Boucher, Lauren M.;
- Niaz, Talha
Publication type:
Article
Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 3, p. 1, doi. 10.1002/ajmg.a.63914
By:
- Kaur, Namanpreet;
- do Rosario, Michelle C.;
- Majethia, Purvi;
- Mascarenhas, Selinda;
- Rao, Lakshmi Priya;
- Nair, Karthik Vijay;
- Hunakunti, Bhagesh;
- Prasannakumar, Adarsh Pooradan;
- Naik, Rohit;
- Narayanan, Dhanya Lakshmi;
- Nayak, Shalini S.;
- Bhat, Vivekananda;
- Sharma, Suvasini;
- Ramesh Bhat, Y.;
- Yatheesha, B. L.;
- Kulkarni, Rajesh;
- Patil, Siddaramappa J.;
- Nampoothiri, Sheela;
- Siddiqui, Shahyan;
- Girisha, Katta Mohan
Publication type:
Article
Further Evidence for a Possible Role for ZFHX4 in Human Ocular Development and Disease.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 3, p. 1, doi. 10.1002/ajmg.a.63911
By:
- Reis, Linda M.;
- Zaidman, Gerald W.;
- Thompson, Samuel;
- Muheisen, Sanaa;
- Glaser, Tom;
- Semina, Elena V.
Publication type:
Article
Clinical Features of a Japanese Girl With Radio‐Tartaglia Syndrome due to a SPEN Truncating Variant.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 3, p. 1, doi. 10.1002/ajmg.a.63910
By:
- Nishi, Eriko;
- Yanagi, Kumiko;
- Okamoto, Nobuhiko;
- Kaname, Tadashi
Publication type:
Article
Cerebellar Hypoplasia and Treatment Course of a Two‐Month‐Old Infant With KCNQ2 Epileptic Encephalopathy Due to a De Novo Variant and Review of the Literature.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 3, p. 1, doi. 10.1002/ajmg.a.63909
By:
- Cebeci, Dilek;
- Cavdarli, Busranur;
- Ozbudak, Pinar;
- Arhan, Ebru;
- Gucuyener, Kivilcim;
- Demir, Ercan
Publication type:
Article
A Prevalent TMEM260 Deletion Causes Conotruncal Heart Defects, Including Truncus Arteriosus.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 3, p. 1, doi. 10.1002/ajmg.a.63906
By:
- Saijo, Naoya;
- Yaoita, Hisao;
- Takayama, Jun;
- Ota, Chiharu;
- Kawai, Eiichiro;
- Kimura, Masato;
- Ozawa, Akira;
- Tamiya, Gen;
- Kure, Shigeo;
- Kikuchi, Atsuo
Publication type:
Article
New Insights Into the Spectrum of RASopathies: Clinical and Genetic Data in a Cohort of 121 Spanish Patients.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 3, p. 1, doi. 10.1002/ajmg.a.63905
By:
- Barbero, Ana Isabel Sánchez;
- Valenzuela, Irene;
- Fernández‐Alvarez, Paula;
- Vazquez, Élida;
- Cueto‐Gonzalez, Anna Maria;
- Lasa‐Aranzasti, Amaia;
- Trujillano, Laura;
- Masotto, Bárbara;
- Arumí, Elena García;
- Tizzano, Eduardo F.
Publication type:
Article
Second Report of the p.Leu874Pro Missense Variant in EPHB4 in a Family With Capillary Malformation‐Arteriovenous Malformation Syndrome (CM‐AVM) Syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 3, p. 1, doi. 10.1002/ajmg.a.63898
By:
- Goeser, Laura E.;
- Lalor, Leah;
- Chiu, Yvonne E.;
- Muriello, Michael
Publication type:
Article
Expanding the Phenotype of NRROS‐Related SENEBAC Syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 3, p. 1, doi. 10.1002/ajmg.a.63899
By:
- Srinivasan, Varunvenkat M.;
- Gowda, Vykuntaraju K.;
- Markose, Annsmol P.;
- Kinhal, Uddhava V.;
- Pandey, Himani
Publication type:
Article
Expanding the Phenotype of Extremely Early Onset Juvenile Huntington's Disease: A Case Report and Review of Previously Published Cases.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 3, p. 1, doi. 10.1002/ajmg.a.63894
By:
- Powis, Zöe;
- Lutz, Jonathon;
- Liaquat, Khalida;
- Querubin, Jyes A.;
- Batish, Sat Dev
Publication type:
Article
Deletions in the Chaserr Gene Linked to Neurodevelopmental Disorder.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 3, p. 1, doi. 10.1002/ajmg.a.63736
Publication type:
Article
Table of Contents, Volume 197A, Number 3, March 2025.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 3, p. 1, doi. 10.1002/ajmg.a.63739
Publication type:
Article
In This Issue.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 3, p. 1, doi. 10.1002/ajmg.a.63738
Publication type:
Article
Lncrna Catalog Significantly Increased in Gencode.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 3, p. 1, doi. 10.1002/ajmg.a.63737
Publication type:
Article
Exome Sequencing Detects Uniparental Disomy of Chromosome 4 Revealing a LARP7 Pathogenic Variant Responsible for Alazami Syndrome: A Case Report.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 3, p. 1, doi. 10.1002/ajmg.a.63891
By:
- Amélie, Buisine‐Sbraggia;
- Julien, Thevenon;
- Kevin, Yauy;
- Marie‐Emmanuelle, Naud;
- Jean‐Marc, Costa;
- Fanny, Dubois‐Teklali;
- Marjolaine, Willems;
- Klaus, Dieterich;
- Véronique, Satre;
- Charles, Coutton;
- Tanno, Pauline Le
Publication type:
Article