Works matching IS 15524825 AND DT 2024 AND VI 194 AND IP 8

Results: 34

Further characterization of ARSK‐related mucopolysaccharidosis type 10.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63635
By:
- Uludağ Alkaya, Dilek;
- Taner, Hasan Emir;
- Yıldırım, Timur;
- Akpınar, Evren;
- Tüysüz, Beyhan
Publication type:
Article
Laryngeal clefts in Prader–Willi syndrome: Feeding difficulties and aspiration not always caused by hypotonia.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63634
By:
- Rodrigo, Minna L.;
- Heubi, Christine;
- Chiou, Eric;
- Scheimann, Ann
Publication type:
Article
Similarity of aortic events between siblings with heritable thoracic aortic diseases: Clinical analysis focusing on identical twins and same‐sex siblings.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63632
By:
- Yagyu, Takeshi;
- Ida, Kazufumi;
- Noguchi, Teruo
Publication type:
Article
Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63627
By:
- Stellacci, Emilia;
- Carter, Jennefer N.;
- Pannone, Luca;
- Stevenson, David;
- Moslehi, Dorsa;
- Venanzi, Serenella;
- Acosta, Maria T.;
- Adams, David R.;
- Afzali, Ben;
- Al‐Beshri, Ali;
- Allenspach, Eric;
- Allworth, Aimee;
- Alvarez, Raquel L.;
- Alvey, Justin;
- Andrews, Ashley;
- Ashley, Euan A.;
- Bacino, Carlos A.;
- Bademci, Guney;
- Balasubramanyam, Ashok;
- Baldridge, Dustin
Publication type:
Article
Identification of a novel phenotype of external ear deformity related to Coffin–Siris syndrome‐9 and literature review.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63626
By:
- Wu, Ruohao;
- Tang, Wenting;
- Li, Pinggan;
- Meng, Zhe;
- Li, Xiaojuan;
- Liang, Liyang
Publication type:
Article
"Why did I choose genetics?": A survey of current and recent medical genetics and genomics residents provides insight into recruitment efforts.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63623
By:
- Hayek, Jennifer Cassady;
- Blitzer, Miriam G.;
- Robin, Nathaniel H.
Publication type:
Article
Homozygosity for disease‐causing variants in AMT and GLDC in a patient with severe nonketotic hyperglycinemia.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63622
By:
- Drackley, Andy;
- Peter, Merlene;
- Rathbun, Pamela;
- Ing, Alexander;
- Prada, Carlos E.;
- Yap, Kai Lee
Publication type:
Article
A novel 3q interstitial deletion including GATA2 and ZNF148: A case report.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63621
By:
- Martin, Elizabeth;
- VanSickle, Elizabeth A.;
- Rossetti, Linda Z.
Publication type:
Article
Parents of children with Down syndrome reflect on their postnatal diagnoses, 2003–2022.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63619
By:
- Artal, Jonathan M.;
- Randall, Lindsey;
- Rubeck, Sabina;
- Allyse, Megan;
- Michie, Marsha;
- Riggan, Kirsten A.;
- Meredith, Stephanie;
- Skotko, Brian G.
Publication type:
Article
Ocular manifestations of CHARGE syndrome in a pediatric cohort with genotype/phenotype analysis.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63618
By:
- Kanwar, Kunal;
- Bashey, Saffiya;
- Bohnsack, Brenda L.;
- Drackley, Andy;
- Ing, Alexander;
- Rahmani, Safa;
- Ranaivo, Hantamalala Ralay;
- McMullen, Patrick;
- Skol, Andrew;
- Yap, Kailee;
- Allegretti, Valerie;
- Rossen, Jennifer L.
Publication type:
Article
Neurodevelopmental disorder in a patient with HMBS and SCN3A variants—A possibly blended phenotype further delineating autosomal recessive HMBS related disease.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63617
By:
- M, Kłaniewska;
- M, Rydzanicz;
- J, Bladowska;
- A, Borys ‐ Iwanicka;
- K, Iwanicka ‐ Pronicka;
- R, Wasilewski;
- E, Odnoczko;
- A, Zubkiewicz‐Kucharska;
- R, Smigiel;
- R, Ploski
Publication type:
Article
A case report of multicentric carpotarsal osteolysis syndrome: Depiction of a debilitating disease course.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63616
By:
- Li, Jennifer Yee‐ming;
- Ho, Fanny Tsz‐wai;
- Lee, Mianne;
- Chan, Joyce;
- Chung, Brian Hon‐yin;
- Tung, Joanna Yuet‐ling;
- Ma, Alison Lap‐tak
Publication type:
Article
The society for craniofacial genetics and developmental biology 46th annual meeting.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63615
By:
- Brugmann, Samantha A.;
- Clouthier, David E.;
- Fantauzzo, Katherine A.;
- Harris, Matthew P.;
- Jeong, Juhee;
- Saint‐Jeannet, Jean‐Pierre;
- Stottmann, Rolf W.;
- Merrill, Amy E.
Publication type:
Article
Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism‐holoprosencephaly.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63614
By:
- Yamada, Mamiko;
- Mizuno, Seiji;
- Inaba, Mie;
- Uehara, Tomoko;
- Inagaki, Hidehito;
- Suzuki, Hisato;
- Miya, Fuyuki;
- Takenouchi, Toshiki;
- Kurahashi, Hiroki;
- Kosaki, Kenjiro
Publication type:
Article
Patient experiences of receiving a diagnosis of hypermobile Ehlers–Danlos syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63613
By:
- Wang, Yun‐Ting;
- Jahani, Shiva;
- Morel‐Swols, Dayna;
- Kapely, Angelica;
- Rosen, Ami;
- Forghani, Irman
Publication type:
Article
Clinical outcomes and medical management of achondroplasia in Japanese children: A retrospective medical record review of clinical data.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63612
By:
- Saitou, Hiroyuki;
- Kitaoka, Taichi;
- Kubota, Takuo;
- Kanno, Junko;
- Mochizuki, Hiroshi;
- Michigami, Toshimi;
- Hasegawa, Kosei;
- Fujiwara, Ikuma;
- Hamajima, Takashi;
- Harada, Daisuke;
- Seki, Yuko;
- Nagasaki, Keisuke;
- Dateki, Sumito;
- Namba, Noriyuki;
- Tokuoka, Hirofumi;
- Pimenta, Jeanne M.;
- Cohen, Shelda;
- Ozono, Keiichi
Publication type:
Article
A de novo frameshift variant in MED13 gene in a patient with autism spectrum disorder and magnetic resonance imaging abnormalities mimicking tuberous sclerosis.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63611
By:
- Pantalone, Gloria;
- Mancardi, Maria Margherita;
- Rossi, Andrea;
- Romanelli, Roberta;
- Marasco, Elena;
- Carla, Marini
Publication type:
Article
Resolution of severe neurobehavioral difficulties in an individual with Primrose syndrome with sertraline.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63610
By:
- Moon, Young Min;
- Park, Sa Eun;
- Smith‐Hicks, Constance;
- Hauptman, Aaron
Publication type:
Article
When rare meets common: Treatable genetic diseases are enriched in the general psychiatric population.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63609
By:
- Sriretnakumar, Venuja;
- Harripaul, Ricardo;
- Kennedy, James L.;
- So, Joyce
Publication type:
Article
Developmental and behavioral phenotypes of pediatric patients with PTEN hamartoma tumor syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63608
By:
- MacFarland, Suzanne P.;
- Duvall, Melani;
- Kemajou, Raissa Tchetcho;
- Baldino, Sarah E.;
- Zelley, Kristin;
- Black, Chelsea;
- Thomas, Allison;
- Thomas, Nina H.;
- Ruffner, Melanie;
- Li, Yimei;
- Miller, Judith S.;
- Brodeur, Garrett M.;
- Shabason, Emily
Publication type:
Article
Diagnostic findings and yield of investigations for children with developmental regression.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63607
By:
- Furley, Kirsten;
- Hunter, Matthew F.;
- Fahey, Michael;
- Williams, Katrina
Publication type:
Article
SYNGAP1‐related developmental and epileptic encephalopathy: Genotypic and phenotypic characteristics and longitudinal insights.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63606
By:
- Kim, Hye Jin;
- Kim, Minhye;
- Jang, Seoyun;
- Cho, Jae So;
- Kim, Soo Yeon;
- Cho, Anna;
- Kim, Hunmin;
- Lim, Byung Chan;
- Chae, Jong‐Hee;
- Choi, Jieun;
- Kim, Ki Joong;
- Kim, WooJoong
Publication type:
Article
Two sisters with RSPRY1‐related spondyloepimetaphyseal dysplasia.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63601
By:
- Singh, Swati;
- Shah, Hitesh;
- Dalal, Ashwin;
- Shukla, Anju;
- Bhavani, Gandham SriLakshmi;
- Girisha, Katta M.
Publication type:
Article
Importance of the biochemical investigations for the functional characterization of a NPC1 variant identified by exome sequencing.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63595
By:
- Almenabawy, Nihal;
- Hung, Clara;
- Sosova, Iveta;
- Mercimek‐Andrews, Saadet
Publication type:
Article
Prenatal findings in 11 cases with craniofacial microsomia using the Alberta Congenital Anomalies Surveillance System, 1997–2019.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63594
By:
- Thomas, Mary Ann;
- Bedard, Tanya;
- Crawford, Susan;
- Lowry, R. Brian
Publication type:
Article
Novel biallelic ZNF335 variant causing primary microcephaly: A case report and radiological review.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63593
By:
- Patel, Dhrumil Deveshkumar;
- Gripp, Karen W.;
- Wadman, Erin;
- Mishra, Ishita;
- Kandula, Vinay
Publication type:
Article
ECEL1 related distal arthrogryposis 5D in an Indian cohort—Report of recognizable musculoskeletal phenotype and a possible founder variant.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63592
By:
- Endrakanti, Mounika;
- Sharma, Jyoti;
- Ethayathulla, Abdul S.;
- Kaur, Punit;
- Khan, Shah Alam;
- Kabra, Madhulika;
- Gupta, Neerja
Publication type:
Article
Familial recurrence of incontinentia pigmenti due to de novo pathogenic variants in the IKBKG gene.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63591
By:
- Steffann, Julie;
- De Oliveira Santos, Judite;
- Zelbin, Anne‐Laure;
- Hadj‐Rabia, Smail;
- Charbit‐Henrion, Fabienne;
- Petit, Florence
Publication type:
Article
Novel Alu insertion in the ZEB2 gene causing Mowat‐Wilson syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63581
By:
- Barington, Maria;
- Bak, Mads;
- Kjartansdóttir, Kristín Rós;
- Hansen, Thomas van Overeem;
- Birkedal, Ulf;
- Østergaard, Elsebet;
- Hove, Hanne Buciek
Publication type:
Article
Anxiety in Turner syndrome: Engaging community to address barriers and facilitators to diagnosis and care.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63564
By:
- Carl, Alexandra;
- Good, Marybel;
- Haag, Erica;
- Hutaff‐Lee, Christa;
- Swain, Deanna;
- Tartaglia, Nicole;
- Sakamoto, Casey;
- Davis, Shanlee;
- Thompson, Talia
Publication type:
Article
Table of Contents, Volume 194A, Number 8, August 2024.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63283
Publication type:
Article
In This Issue.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63282
Publication type:
Article
Rule Expansion Further Regulates Laboratory Developed Tests.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63281
Publication type:
Article
APOE4 Homozygotes Represent a Distinct Genetic Subtype of Alzheimer's Disease.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63280
Publication type:
Article