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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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 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

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

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

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