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

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

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

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

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

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

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

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

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

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

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

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