Works matching IS 15524825 AND DT 2023 AND VI 191 AND IP 7

Results: 41

Jansen‐de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1900, doi. 10.1002/ajmg.a.63226
By:
- Wojcik, Monica H.;
- Srivastava, Siddharth;
- Agrawal, Pankaj B.;
- Balci, Tugce B.;
- Callewaert, Bert;
- Calvo, Pier Luigi;
- Carli, Diana;
- Caudle, Michelle;
- Colaiacovo, Samantha;
- Cross, Laura;
- Demetriou, Kalliope;
- Drazba, Katy;
- Dutra‐Clarke, Marina;
- Edwards, Matthew;
- Genetti, Casie A.;
- Grange, Dorothy K.;
- Hickey, Scott E.;
- Isidor, Bertrand;
- Küry, Sébastien;
- Lachman, Herbert M.
Publication type:
Article
Craniofacial and dental characteristics of three Japanese individuals with genetically diagnosed SATB2‐associated syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1984, doi. 10.1002/ajmg.a.63225
By:
- Kurosaka, Hiroshi;
- Yamamoto, Sayuri;
- Hirasawa, Kyoko;
- Yanagishita, Tomoe;
- Fujioka, Kaoru;
- Yagasaki, Hideaki;
- Nagata, Miho;
- Ishihara, Yasuki;
- Yonei, Ayumi;
- Asano, Yoshihiro;
- Nagata, Namiki;
- Tsujimoto, Takayuki;
- Inubushi, Toshihiro;
- Yamamoto, Toshiyuki;
- Sakai, Norio;
- Yamashiro, Takashi
Publication type:
Article
Uniparental disomy of multiple chromosomes in two cases with a complex phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1978, doi. 10.1002/ajmg.a.63224
By:
- Polonis, Katarzyna;
- Lopes, Jaime L.;
- Cabral, Huong;
- Babcock, Holly E.;
- Kline, Laura;
- Ruiz, Kaylee M.;
- Schwartz, Stuart;
- Hasadsri, Linda;
- Rowsey, Ross A.;
- Hoppman, Nicole L.
Publication type:
Article
De novo RANBP2 variant in a fetal demise case with cerebral intraparenchymal hemorrhage.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1973, doi. 10.1002/ajmg.a.63223
By:
- Meroni, Anna;
- Kalantari, Silvia;
- Arossa, Alessia;
- Spinillo, Arsenio;
- Melito, Chiara;
- Scatigno, Annachiara Licia;
- Cesari, Stefania;
- Giorgio, Elisa;
- Furione, Milena;
- Homfray, Tessa;
- Sirchia, Fabio
Publication type:
Article
Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestalt.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1889, doi. 10.1002/ajmg.a.63222
By:
- Pelgrims, Elise;
- Lynch, Sally Ann;
- Hannes, Laurens;
- Hoffer, Mariëtte J. V.;
- Melotte, Cindy;
- Van Haeringen, Arie;
- Swillen, Ann;
- Breckpot, Jeroen
Publication type:
Article
U2AF2 variant in a patient with developmental delay, dysmorphic features, and epilepsy.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1968, doi. 10.1002/ajmg.a.63221
By:
- Kittock, Claire M.;
- Saifeddine, Mohamad;
- Straight, Lisa;
- Ward, D. Isum
Publication type:
Article
Generation and mutational analysis of a transgenic murine model of the human MAF mutation.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1878, doi. 10.1002/ajmg.a.63220
By:
- Fujino, Mitsunori;
- Ojima, Masami;
- Ishibashi, Shun;
- Mizuno, Seiya;
- Takahashi, Satoru
Publication type:
Article
Portal cavernoma in type 1 neurofibromatosis: A fortuitous or causal association?
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1963, doi. 10.1002/ajmg.a.63219
By:
- Ashworth, Joanna;
- Sousa Abreu, Vasco;
- Couto Guerra, Isabel;
- Almeida, Susana;
- Cunha, Catarina;
- Moreira Silva, Helena;
- Santos Silva, Ermelinda
Publication type:
Article
Correction to "Expanding the phenotype: Four new cases and hope for treatment in Bachmann–Bupp syndrome".
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 2003, doi. 10.1002/ajmg.a.63218
Publication type:
Article
Inpatient epidemiology, healthcare utilization, and association with comorbidities of Turner syndrome: A National Inpatient Sample study.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1870, doi. 10.1002/ajmg.a.63217
By:
- Chenbhanich, Jirat;
- Ungprasert, Patompong;
- Kroner, Paul T.
Publication type:
Article
Long‐term effectiveness of enzyme replacement therapy in Fabry disease with the p.Arg227Ter variant: Fabry disease in Ostrobothnia (FAST) study.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1858, doi. 10.1002/ajmg.a.63216
By:
- Pietilä‐Effati, Päivi;
- Saarinen, Jukka T.;
- Löyttyniemi, Eliisa;
- Saarenhovi, Maria;
- Autio, Reijo;
- Kantola, Ilkka
Publication type:
Article
Parallel deletion and duplication at 7q11.23 in a silent carrier for two reciprocal syndromic disorders.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1849, doi. 10.1002/ajmg.a.63215
By:
- Lühmann, Jonathan Lukas;
- Schmidt, Gunnar;
- Auber, Bernd;
- Bergmann, Anke Katharina;
- Brandau, Oliver;
- Louis, Anja;
- Hentze, Sabine;
- Eisfeld, Katrin;
- Schlegelberger, Brigitte;
- Klaes, Ruediger;
- Steinemann, Doris
Publication type:
Article
Novel mosaic TRAF7 likely pathogenic variant in an African American family.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1990, doi. 10.1002/ajmg.a.63214
By:
- Colleran, Jack A.;
- Daykin, Emily C.;
- Hernandez, Cindy;
- Ray, Joseph;
- Morand, Megan
Publication type:
Article
Novel nonsense mutation in UNC80 in a Turkish patient further validates the sociable skill and severe gastrointestinal problems as part of disease spectrum.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1959, doi. 10.1002/ajmg.a.63213
By:
- Kelesoglu, Fatih M.;
- Kaya, Mahsum;
- Sayili, Ebrar Tuba
Publication type:
Article
A PUS7 gene pathogenic variant causing self‐injurious behavior, sleep disturbances, and developmental delay: A case report.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1953, doi. 10.1002/ajmg.a.63212
By:
- Muda, Alice;
- Malerba, Laura;
- Giordano, Lucio;
- Fazzi, Elisa;
- Accorsi, Patrizia
Publication type:
Article
Cognitive, adaptive and behavioral profile in Sotos syndrome children with 5q35 microdeletion or intragenic variants.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1836, doi. 10.1002/ajmg.a.63211
By:
- Siracusano, Martina;
- Riccioni, Assia;
- Frattale, Ilaria;
- Arturi, Lucrezia;
- Dante, Caterina;
- Galasso, Cinzia;
- Gialloreti, Leonardo Emberti;
- Conteduca, Giuseppina;
- Testa, Barbara;
- Malacarne, Michela;
- Coviello, Domenico;
- Mazzone, Luigi
Publication type:
Article
First experience of combined enzyme replacement therapy and hematopoietic stem cell transplantation in alpha‐mannosidosis.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1948, doi. 10.1002/ajmg.a.63210
By:
- Santoro, Lucia;
- Monachesi, Chiara;
- Zampini, Lucia;
- Padella, Lucia;
- Galeazzi, Tiziana;
- Santori, Elena;
- Cordiali, Rosanna;
- Dardis, Andrea;
- Catassi, Carlo;
- Boccieri, Emilia;
- Galaverna, Federica;
- Locatelli, Franco
Publication type:
Article
Novel NALCN variant linked to temporal lobe epilepsy.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1942, doi. 10.1002/ajmg.a.63209
By:
- Nguyen, Emmanuelle;
- Tétreault, Martine;
- Toffa, Dènahin Hinnoutondji;
- Cossette, Patrick;
- Samarut, Éric;
- Nguyen, Dang Khoa
Publication type:
Article
Expanded phenotypic and hematologic abnormalities beyond bone marrow failure in MECOM‐associated syndromes.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1826, doi. 10.1002/ajmg.a.63208
By:
- Lozano Chinga, Michell M.;
- Bertuch, Alison A.;
- Afify, Zeinab;
- Dollerschell, Kaylee;
- Hsu, Joanne I.;
- John, Tami D.;
- Rao, Emily S.;
- Rowe, Robert Grant;
- Sankaran, Vijay G.;
- Shimamura, Akiko;
- Williams, David A.;
- Nakano, Taizo A.
Publication type:
Article
The clinical phenotype of Koolen‐de Vries syndrome in Turkish patients and literature review.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1814, doi. 10.1002/ajmg.a.63207
By:
- Karamik, Gokcen;
- Tuysuz, Beyhan;
- Isik, Esra;
- Yilmaz, Aysegul;
- Alanay, Yasemin;
- Sunamak, Evrim Cifci;
- Durmusalioglu, Enise Avci;
- Ozkinay, Ferda;
- Cetin, Gokhan Ozan;
- Ozturk, Nuray;
- Mihci, Ercan;
- Nur, Banu
Publication type:
Article
The Society for Craniofacial Genetics and Developmental Biology 45th Annual Meeting.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1994, doi. 10.1002/ajmg.a.63206
By:
- Stottmann, Rolf W.;
- Harris, Matthew P.;
- Saint‐Jeannet, Jean‐Pierre;
- Merrill, Amy E.;
- Clouthier, David E.
Publication type:
Article
Novel insights on GTPBP3‐associated hypertrophic cardiomyopathy.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1804, doi. 10.1002/ajmg.a.63205
By:
- Angelova, Petya;
- Velchev, Vasil;
- Stoyanov, Nikolay;
- Atemin, Slavena;
- Todorov, Tihomir;
- Tourtourikov, Ivan;
- Mitev, Vanyo;
- Todorova, Albena
Publication type:
Article
Somatic symptoms, pain, catastrophizing and the association with disability among children with heritable connective tissue disorders.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1792, doi. 10.1002/ajmg.a.63204
By:
- de Koning, Lisanne E.;
- Warnink‐Kavelaars, Jessica;
- van Rossum, Marion A.;
- Bosman, Diederik;
- Menke, Leonie A.;
- Malfait, Fransiska;
- de Boer, Rosa;
- Oosterlaan, Jaap;
- Engelbert, Raoul H. H.;
- Rombaut, Lies
Publication type:
Article
Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1935, doi. 10.1002/ajmg.a.63203
By:
- Thomas‐Wilson, Amanda;
- Schacht, John P.;
- Chitayat, David;
- Blaser, Susan;
- Santos, Francis Jeshira Reynoso;
- Glaser, Kimberly;
- Caffo, Alesky;
- Wentzensen, Ingrid M.;
- Henderson, Lindsay B.;
- Zhang, Futao;
- Zhu, Ying;
- Di Corleto, Ellen;
- da Silva Costa, Fabricio;
- Vink, Rebecca;
- Alkhunaizi, Ebba;
- Russell, Laura;
- Buckley, Michael F.;
- Roscioli, Tony;
- Pereira, Elaine Maria;
- Ganapathi, Mythily
Publication type:
Article
The D409H variant in GBA1: Challenges in predicting the Gaucher phenotype in the newborn screening era.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1783, doi. 10.1002/ajmg.a.63202
By:
- Gleason, Adenrele M.;
- D'Souza, Andrea;
- Ryan, Emory;
- Grochowsky, Angela R.;
- Carter, Camille R.;
- Goker‐Alpan, Ozlem;
- Lopez, Grisel;
- Tayebi, Nahid;
- Sidransky, Ellen
Publication type:
Article
The range of publications on arthrogryposis multiplex congenita from 1995 to 2022—A scoping review.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1693, doi. 10.1002/ajmg.a.63201
By:
- Hermansen, My Vuong;
- Wekre, Lena Lande;
- Lidal, Ingeborg B.
Publication type:
Article
Expanding the phenotype of Seckel syndrome associated with biallelic loss‐of‐function variants in CEP63.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1929, doi. 10.1002/ajmg.a.63200
By:
- Pekkola Pacheco, Nadja;
- Pettersson, Maria;
- Lindstrand, Anna;
- Grigelioniene, Giedre
Publication type:
Article
Adverse childhood experiences and the development of Down syndrome regression disorder.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1769, doi. 10.1002/ajmg.a.63199
By:
- Wang, Sarah;
- Patel, Lina;
- Sannar, Elise A.;
- Khoshnood, Mellad;
- Boyd, Natalie K.;
- Mendez, Lorena;
- Spinazzi, Noemi A.;
- Quinn, Eileen A.;
- Rafii, Michael S.;
- Santoro, Jonathan D.
Publication type:
Article
Pontocerebellar hypoplasia associated with p.Arg183Trp homozygous variant in EXOSC1 gene: A case report.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1923, doi. 10.1002/ajmg.a.63198
By:
- Damseh, Nadirah S.;
- Obeidat, Ali N.;
- Ahammed, Khondakar Sayef;
- Al‐Ashhab, Motee;
- Awad, Motee Abu;
- van Hoof, Ambro
Publication type:
Article
Cardiometabolic risk in young adults with Down syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1758, doi. 10.1002/ajmg.a.63197
By:
- Manfredo, Jacquelyn;
- Capone, George;
- Yanek, Lisa;
- McCarter, Robert;
- Zemel, Babette;
- Kelly, Andrea;
- Magge, Sheela N.
Publication type:
Article
Long‐term follow‐up of a patient with neonatal form of Gaucher disease.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1917, doi. 10.1002/ajmg.a.63196
By:
- Gragnaniello, Vincenza;
- Cazzorla, Chiara;
- Gueraldi, Daniela;
- Loro, Christian;
- Massa, Pamela;
- Puma, Andrea;
- Cananzi, Mara;
- Salviati, Leonardo;
- Burlina, Alessandro P.;
- Burlina, Alberto B.
Publication type:
Article
Development of informant‐report neurobehavioral survey scales for PTEN hamartoma tumor syndrome and related neurodevelopmental genetic syndromes.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1741, doi. 10.1002/ajmg.a.63195
By:
- Frazier, Thomas W.;
- Busch, Robyn M.;
- Klaas, Patricia;
- Lachlan, Katherine;
- Jeste, Shafali;
- Kolevzon, Alexander;
- Loth, Eva;
- Harris, Jacqueline;
- Speer, Leslie;
- Pepper, Tom;
- Anthony, Kristin;
- Graglia, J. Michael;
- Delagrammatikas, Christal;
- Bedrosian‐Sermone, Sandra;
- Beekhuyzen, Jenine;
- Smith‐Hicks, Constance;
- Sahin, Mustafa;
- Eng, Charis;
- Hardan, Antonia Y.;
- Uljarević, Mirko
Publication type:
Article
Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1722, doi. 10.1002/ajmg.a.63194
By:
- Gazdagh, Gabriella;
- Hunt, David;
- Gonzalez, Anna Maria Cueto;
- Rodriguez, Monserrat Pons;
- Chaudhry, Ayeshah;
- Madruga, Marcos;
- Vansenne, Fleur;
- Shears, Deborah;
- Curie, Aurore;
- Stattin, Eva‐Lena;
- Anderlid, Britt‐Marie;
- Trajkova, Slavica;
- Angelovska, Elena Sukarova;
- McWilliam, Catherine;
- Wyatt, Philip R.;
- O'Driscoll, Mary;
- Atton, Giles;
- Bergman, Anke K.;
- Zacher, Pia;
- Mewasingh, Leena D.
Publication type:
Article
H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1911, doi. 10.1002/ajmg.a.63193
By:
- Borja, Nicholas;
- Borjas‐Mendoza, Paulo;
- Bivona, Stephanie;
- Peart, LéShon;
- Gonzalez, Joanna;
- Johnson, Brittney Keira;
- Guo, Shengru;
- Yusupov, Roman;
- Acosta, Maria T.;
- Adam, Margaret;
- Adams, David R.;
- Agrawal, Pankaj B.;
- Alejandro, Mercedes E.;
- Alvey, Justin;
- Amendola, Laura;
- Andrews, Ashley;
- Ashley, Euan A.;
- Azamian, Mahshid S.;
- Bacino, Carlos A.;
- Bademci, Guney
Publication type:
Article
Quantitative measures of motor development in Angelman syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1711, doi. 10.1002/ajmg.a.63192
By:
- Duis, Jessica;
- Skinner, Austin;
- Carson, Robert;
- Gouelle, Arnaud;
- Annoussamy, Melanie;
- Silverman, Jill L.;
- Apkon, Susan;
- Servais, Laurent;
- Carollo, James
Publication type:
Article
A study of disparities in access to genetic care pre‐ and post‐pandemic.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1704, doi. 10.1002/ajmg.a.63191
By:
- Macalino, Ashlee Joan;
- Porter, Randall S.;
- Smith, Lindsay;
- Wang, Hongyue;
- Levin, Alex V.
Publication type:
Article
In This Issue.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1691, doi. 10.1002/ajmg.a.62817
Publication type:
Article
Genomic Analysis Unlocks Cause Of Beethoven's Death.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1689, doi. 10.1002/ajmg.a.62816
Publication type:
Article
Bubonic Plague Protector Shows Its Dark Side.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1688, doi. 10.1002/ajmg.a.62815
Publication type:
Article
Publication schedule for 2023.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1687, doi. 10.1002/ajmg.a.62814
Publication type:
Article
Table of Contents, Volume 191A, Number 7, July 2023.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1681, doi. 10.1002/ajmg.a.62813
Publication type:
Article