Works matching IS 15524825 AND DT 2020 AND VI 182 AND IP 9

Results: 36

In This Issue.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2001, doi. 10.1002/ajmg.a.61820
Publication type:
Article
The Gnomad Consortium Releases First Studies of Human Genetic Variation.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 1999, doi. 10.1002/ajmg.a.61819
Publication type:
Article
Cover Image, Volume 182A, Number 9, September 2020.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. i, doi. 10.1002/ajmg.a.61500
Publication type:
Article
Corrigendum.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2195, doi. 10.1002/ajmg.a.61774
Publication type:
Article
Announcing a new manuscript category for the American Journal of Medical Genetics Part A: Dispatches from Biotech.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2003, doi. 10.1002/ajmg.a.61766
By:
- Solomon, Benjamin D.;
- Slavotinek, Anne M.
Publication type:
Article
Paternal somatogonadal COL2A1 mosaicism causing recurrence of severe type 2 collagenopathy.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2191, doi. 10.1002/ajmg.a.61763
By:
- Morrison, Patrick J.;
- Znaczko, Anna;
- Jansson, Mattias
Publication type:
Article
Heterozygous missense variant in EIF6 gene: A novel form of Shwachman–Diamond syndrome?
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2010, doi. 10.1002/ajmg.a.61758
By:
- Koh, Ai Ling;
- Bonnard, Carine;
- Lim, Jiin Ying;
- Liew, Woei Kang;
- Thoon, Koh Cheng;
- Thomas, Terrence;
- Ali, Nur Ain Binte;
- Ng, Alvin Yu Jin;
- Tohari, Sumanty;
- Phua, Kong Boo;
- Venkatesh, Byrappa;
- Reversade, Bruno;
- Jamuar, Saumya Shekhar
Publication type:
Article
Sotos syndrome in two children from India.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2181, doi. 10.1002/ajmg.a.61751
By:
- Panigrahi, Inusha;
- Chaudhry, Chakshu
Publication type:
Article
Large duplication in LMBR1 gene in a large Chinese pedigree with triphalangeal thumb polysyndactyly syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2117, doi. 10.1002/ajmg.a.61757
By:
- Xu, Jihai;
- Wu, Jing;
- Teng, Xiaofeng;
- Cai, Libing;
- Yuan, Huizong;
- Chen, Xiaokun;
- Hu, Mu;
- Wang, Xin;
- Jiang, Ning;
- Chen, Hong
Publication type:
Article
Schimke XLID syndrome results from a deletion in BCAP31.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2168, doi. 10.1002/ajmg.a.61755
By:
- Louie, Raymond J.;
- Collins, Debra L.;
- Friez, Michael J.;
- Skinner, Cindy;
- Schwartz, Charles E.;
- Stevenson, Roger E.
Publication type:
Article
Growth in individuals with Saul–Wilson syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2110, doi. 10.1002/ajmg.a.61754
By:
- Ferreira, Carlos R.;
- Niiler, Timothy;
- Duker, Angela L.;
- Jackson, Andrew P.;
- Bober, Michael B.
Publication type:
Article
Redeployment: Tales of a pediatric geneticist in a COVID‐19 combat zone.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2008, doi. 10.1002/ajmg.a.61753
By:
- Breilyn, Margo Sheck
Publication type:
Article
Farber disease in a patient from China.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2184, doi. 10.1002/ajmg.a.61752
By:
- Bao, Xudong;
- Ma, Mingsheng;
- Zhang, Zhenjie;
- Xu, Yiwen;
- Qiu, Zhengqing
Publication type:
Article
50 years of Robinow syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2005, doi. 10.1002/ajmg.a.61756
By:
- Mazzeu, Juliana F.;
- Brunner, Han G.
Publication type:
Article
A study on facial features of children with Williams syndrome in China based on three‐dimensional anthropometric measurement technology.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2102, doi. 10.1002/ajmg.a.61750
By:
- Ji, Chai;
- Yao, Dan;
- Li, Ming‐Yan;
- Chen, Wei‐Jun;
- Lin, Sheng‐Liang;
- Zhao, Zheng‐Yan
Publication type:
Article
Complex nutritional deficiencies in a large cohort of Italian patients with Cornelia de Lange syndrome spectrum.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2094, doi. 10.1002/ajmg.a.61749
By:
- Parma, Barbara;
- Cianci, Paola;
- Decimi, Valentina;
- Mariani, Milena;
- Provero, Maria Cristina;
- Funari, Caterina;
- Tajè, Silvia;
- Apuril, Erika;
- Cereda, Anna;
- Panceri, Roberto;
- Maitz, Silvia;
- Fossati, Chiara;
- Selicorni, Angelo
Publication type:
Article
Complete blood count differences in a cohort of Down syndrome neonates with transient abnormal myelopoiesis screened for GATA1 pathogenic variants.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2085, doi. 10.1002/ajmg.a.61748
By:
- Orozco‐Vela, Mireya;
- Corona‐Rivera, Alfredo;
- Cruz‐Osorio, Rosa Margarita;
- Mendoza‐Maldonado, Lucero;
- Márquez‐Mora, Aurea;
- Barba‐Barba, César Cenobio;
- Peña‐Padilla, Christian;
- Baldomero‐López, Alejandra;
- Bobadilla‐Morales, Lucina;
- Corona‐Rivera, Jorge Román
Publication type:
Article
The recurrent TUBB3 Gly98Ser substitution is the first described to inconsistently result in CFEOM3.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2161, doi. 10.1002/ajmg.a.61747
By:
- Smith, Scott C.;
- Olney, Ann Haskins;
- Beavers, Angela;
- Spaulding, Joanna;
- Nelson, Marilu;
- Nielsen, Shelly;
- Sanmann, Jennifer N.
Publication type:
Article
LACHT syndrome (Mardini–Nyhan association) with tracheal stenosis in a Thai newborn.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2175, doi. 10.1002/ajmg.a.61746
By:
- Rojnueangnit, Kitiwan;
- Kositamongkol, Sudatip;
- Paoin, Wanida;
- Satdhabudha, Araya;
- Pharadornuwat, Onsuthi;
- Wongwandee, Ratthapon;
- Thammachote, Weerin;
- Jinawath, Natini
Publication type:
Article
Bone fractures in children with trisomy 13 and 18.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2187, doi. 10.1002/ajmg.a.61745
By:
- Weaver, Meaghann S.;
- Hauschild, Kelly;
- Beavers, Angela J.;
- Birge, Nicole;
- Lisowyj, Elizabeth;
- Norton, Bridget M.;
- Shostrom, Valerie K.;
- Haney, Suzanne
Publication type:
Article
A homozygous variant in growth and differentiation factor 2 (GDF2) may cause lymphatic dysplasia with hydrothorax and nonimmune hydrops fetalis.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2152, doi. 10.1002/ajmg.a.61743
By:
- Aukema, Sietse M.;
- ten Brinke, Gerdien A.;
- Timens, Wim;
- Vos, Yvonne J.;
- Accord, Ryan E.;
- Kraft, Karianne E.;
- Santing, Michiel J.;
- Morssink, Leonard P.;
- Streefland, Esther;
- Diemen, Cleo C.;
- Vrijlandt, Elianne JLE;
- Hulzebos, Christian V.;
- Kerstjens‐Frederikse, Wilhelmina S.
Publication type:
Article
Short stature and growth hormone deficiency in a subset of patients with Potocki–Lupski syndrome: Expanding the phenotype of PTLS.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2077, doi. 10.1002/ajmg.a.61741
By:
- Franciskovich, Rachel;
- Soler‐Alfonso, Claudia;
- Neira‐Fresneda, Juanita;
- Lupski, James R.;
- McCann‐Crosby, Bonnie;
- Potocki, Lorraine
Publication type:
Article
A novel intronic variant in UBE3A identified by genome sequencing in a patient with an atypical presentation of Angelman syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2145, doi. 10.1002/ajmg.a.61740
By:
- Curtis, Meredith;
- Baribeau, Danielle;
- Walker, Susan;
- Carter, Melissa;
- Costain, Gregory;
- Lamoureux, Sylvia;
- Liston, Eriskay;
- Marshall, Christian R.;
- Reuter, Miriam S.;
- Snell, Meaghan;
- Summers, Jane;
- Vorstman, Jacob;
- Jobling, Rebekah K.
Publication type:
Article
An Indian child with Coats plus syndrome due to mutations in STN1.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2139, doi. 10.1002/ajmg.a.61737
By:
- Passi, Gouri Rao;
- Shamim, Uzma;
- Rathore, Surabhi;
- Joshi, Aditi;
- Mathur, Aradhana;
- Parveen, Shaista;
- Sharma, Pooja;
- Crow, Yanick J.;
- Faruq, Mohammed
Publication type:
Article
Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2068, doi. 10.1002/ajmg.a.61735
By:
- Suter, Aude‐Annick;
- Santos‐Simarro, Fernando;
- Toerring, Pernille Mathiesen;
- Abad Perez, Angela;
- Ramos‐Mejia, Rosario;
- Heath, Karen E.;
- Huckstadt, Victoria;
- Parrón‐Pajares, Manuel;
- Mensah, Martin Atta;
- Hülsemann, Wiebke;
- Holtgrewe, Manuel;
- Mundlos, Stefan;
- Kornak, Uwe;
- Bartsch, Oliver;
- Ehmke, Nadja
Publication type:
Article
Associated anomalies in cases with congenital clubfoot.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2027, doi. 10.1002/ajmg.a.61721
By:
- Stoll, Claude;
- Alembick, Yves;
- Dott, Beatrice;
- Roth, Marie‐Paule
Publication type:
Article
12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2133, doi. 10.1002/ajmg.a.61734
By:
- Niclass, Tanguy;
- Le Guyader, Gwenael;
- Beneteau, Claire;
- Joubert, Madeleine;
- Pizzuti, Antonio;
- Giuffrida, Maria Grazia;
- Bernardini, Laura;
- Gilbert‐Dussardier, Brigitte;
- Bilan, Frederic;
- Egloff, Matthieu
Publication type:
Article
Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele‐de Vries syndrome).
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2129, doi. 10.1002/ajmg.a.61731
By:
- Carminho‐Rodrigues, Maria Teresa;
- Steel, Dora;
- Sousa, Sergio B.;
- Brandt, Gregor;
- Guipponi, Michel;
- Laurent, Sacha;
- Fokstuen, Siv;
- Moren, Aurea;
- Zacharia, André;
- Dirren, Elisabeth;
- Oliveira, Renata;
- Kurian, Manju A.;
- Burkhard, Pierre R.;
- Bally, Julien F.
Publication type:
Article
DYNC1H1‐related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2049, doi. 10.1002/ajmg.a.61729
By:
- Amabile, Sonia;
- Jeffries, Lauren;
- McGrath, James M.;
- Ji, Weizhen;
- Spencer‐Manzon, Michele;
- Zhang, Hui;
- Lakhani, Saquib A.
Publication type:
Article
Prenatal presentation and diagnosis of Baraitser‐Winter syndrome using exome sequencing.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2124, doi. 10.1002/ajmg.a.61725
By:
- Zhang, Kermit;
- Cox, Eleina;
- Strom, Samuel;
- Xu, Zhuo Luan;
- Disilvestro, Alexis;
- Usrey, Kelly
Publication type:
Article
Genotype–phenotype correlation at codon 1740 of SETD2.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2037, doi. 10.1002/ajmg.a.61724
By:
- Rabin, Rachel;
- Radmanesh, Alireza;
- Glass, Ian A.;
- Dobyns, William B.;
- Aldinger, Kimberly A.;
- Shieh, Joseph T.;
- Romoser, Shelby;
- Bombei, Hannah;
- Dowsett, Leah;
- Trapane, Pamela;
- Bernat, John A.;
- Baker, Janice;
- Mendelsohn, Nancy J.;
- Popp, Bernt;
- Siekmeyer, Manuela;
- Sorge, Ina;
- Sansbury, Francis Hugh;
- Watts, Patrick;
- Foulds, Nicola C.;
- Burton, Jennifer
Publication type:
Article
The variability of SMARCA4‐related Coffin–Siris syndrome: Do nonsense candidate variants add to milder phenotypes?
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2058, doi. 10.1002/ajmg.a.61732
By:
- Li, Dong;
- Ahrens‐Nicklas, Rebecca C.;
- Baker, Janice;
- Bhambhani, Vikas;
- Calhoun, Amy;
- Cohen, Julie S.;
- Deardorff, Matthew A.;
- Fernández‐Jaén, Alberto;
- Kamien, Benjamin;
- Jain, Mahim;
- Mckenzie, Fiona;
- Mintz, Mark;
- Motter, Constance;
- Niles, Kirsten;
- Ritter, Alyssa;
- Rogers, Curtis;
- Roifman, Maian;
- Townshend, Sharron;
- Ward‐Melver, Catherine;
- Schrier Vergano, Samantha A.
Publication type:
Article
Differentiating molecular etiologies of Angelman syndrome through facial phenotyping using deep learning.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2021, doi. 10.1002/ajmg.a.61720
By:
- Gomez, Diego A.;
- Bird, Lynne M.;
- Fleischer, Nicole;
- Abdul‐Rahman, Omar A.
Publication type:
Article
Global Initiative Seeks to Crack the COVID‐19 Genetic Code.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 1998, doi. 10.1002/ajmg.a.61244
Publication type:
Article
Publication schedule for 2020.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 1997, doi. 10.1002/ajmg.a.61243
Publication type:
Article
Table of Contents, Volume 182A, Number 9, September 2020.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 1993, doi. 10.1002/ajmg.a.61242
Publication type:
Article