Works matching IS 15524825 AND DT 2016 AND VI 170A AND IP 4

Results: 46

Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 891, doi. 10.1002/ajmg.a.37491
By:
- Atwal, Paldeep Singh;
- Blease, Sophie;
- Braxton, Alicia;
- Graves, Julia;
- He, Weimin;
- Person, Richard;
- Slattery, Leah;
- Bernstein, Jonathan Adam;
- Hudgins, Louanne
Publication type:
Article
Survival of children with trisomy 13 and trisomy 18: A multi-state population-based study.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 825, doi. 10.1002/ajmg.a.37495
By:
- Meyer, Robert E.;
- Liu, Gang;
- Gilboa, Suzanne M.;
- Ethen, Mary K.;
- Aylsworth, Arthur S.;
- Powell, Cynthia M.;
- Flood, Timothy J.;
- Mai, Cara T.;
- Wang, Ying;
- Canfield, Mark A.
Publication type:
Article
Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 908, doi. 10.1002/ajmg.a.37496
By:
- Watanabe, Satoshi;
- Shimizu, Kenji;
- Ohashi, Hirofumi;
- Kosaki, Rika;
- Okamoto, Nobuhiko;
- Shimojima, Keiko;
- Yamamoto, Toshiyuki;
- Chinen, Yasutsugu;
- Mizuno, Seiji;
- Dowa, Yuri;
- Shiomi, Natsuko;
- Toda, Yoshihiro;
- Tashiro, Katsuya;
- Shichijo, Koichi;
- Minatozaki, Kazunori;
- Aso, Seijiro;
- Minagawa, Kyoko;
- Hiraki, Yoko;
- Shimokawa, Osamu;
- Matsumoto, Tadashi
Publication type:
Article
Anthropometric findings from birth to adulthood and their relation with karyotpye distribution in Turkish girls with Turner syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 942, doi. 10.1002/ajmg.a.37498
By:
- Sari, Erkan;
- Bereket, Abdullah;
- Yeşilkaya, Ediz;
- Baş, Firdevs;
- Bundak, Rüveyde;
- Aydın, Banu Küçükemre;
- Darcan, Şükran;
- Dündar, Bumin;
- Büyükinan, Muammer;
- Kara, Cengiz;
- Adal, Erdal;
- Akıncı, Ayşehan;
- Atabek, Mehmet Emre;
- Demirel, Fatma;
- Çelik, Nurullah;
- Özkan, Behzat;
- Özhan, Bayram;
- Orbak, Zerrin;
- Ersoy, Betül;
- Doğan, Murat
Publication type:
Article
A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A ( FLNA) mutation.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 881, doi. 10.1002/ajmg.a.37567
By:
- Lah, Melissa;
- Niranjan, Tejasvi;
- Srikanth, Sujata;
- Holloway, Lynda;
- Schwartz, Charles E.;
- Wang, Tao;
- Weaver, David D.
Publication type:
Article
Cover Image, Volume 170A, Number 4, April 2016.
Published in:
2016
By:
- Scheps, Karen G.;
- Francipane, Liliana;
- Nevado, Julián;
- Basack, Nora;
- Attie, Myriam;
- Bergonzi, María Fernanda;
- Cerrone, Gloria E.;
- Lapunzina, Pablo;
- Varela, Viviana
Publication type:
Other
FTO variant associated with malformation syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 1023, doi. 10.1002/ajmg.a.37515
By:
- Rohena, Luis;
- Lawson, Michelle;
- Guzman, Edwin;
- Ganapathi, Mythily;
- Cho, Megan T.;
- Haverfield, Eden;
- Anyane‐Yeboa, Kwame
Publication type:
Article
Stippled calcification in an infant with a recurrent SRCAP gene mutation.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 1088, doi. 10.1002/ajmg.a.37516
By:
- Yagi, Hiroko;
- Takagi, Masaki;
- Narumi, Satoshi;
- Hasegawa, Tomonobu;
- Nishimura, Gen;
- Hasegawa, Yukihiro
Publication type:
Article
Gorlin syndrome with an ovarian leiomyoma associated with a PTCH1 second hit.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 1029, doi. 10.1002/ajmg.a.37517
By:
- Akizawa, Yoshika;
- Miyashita, Toshiyuki;
- Sasaki, Ryo;
- Nagata, Reiko;
- Aoki, Ryoko;
- Ishitani, Ken;
- Nagashima, Yoji;
- Matsui, Hideo;
- Saito, Kayoko
Publication type:
Article
Distinctive findings in a boy with Simpson-Golabi-Behmel syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 1035, doi. 10.1002/ajmg.a.37518
By:
- Halayem, Soumeyya;
- Hamza, Mariem;
- Maazoul, Faouzi;
- Ben Turkia, Hadhemi;
- Touati, Maissa;
- Tebib, Neji;
- Mrad, Ridha;
- Bouden, Asma
Publication type:
Article
Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 967, doi. 10.1002/ajmg.a.37519
By:
- Grams, Sarah E.;
- Argiropoulos, Bob;
- Lines, Matthew;
- Chakraborty, Pranesh;
- Mcgowan‐Jordan, Jean;
- Geraghty, Michael T.;
- Tsang, Marilyn;
- Eswara, Marthand;
- Tezcan, Kamer;
- Adams, Kelly L.;
- Linck, Leesa;
- Himes, Patricia;
- Kostiner, Dana;
- Zand, Dina J.;
- Stalker, Heather;
- Driscoll, Daniel J.;
- Huang, Taosheng;
- Rosenfeld, Jill A.;
- Li, Xu;
- Chen, Emily
Publication type:
Article
Inaccuracy of non-invasive prenatal screening demands cautious counsel and follow-up.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 1086, doi. 10.1002/ajmg.a.37530
By:
- Tonk, Vijay S.;
- Wilson, Golder N.
Publication type:
Article
Long-term treatment of neurofibromatosis 1 with ketotifen. A report of three cases.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 1092, doi. 10.1002/ajmg.a.37531
By:
- Rodriguez‐Jimenez, Pedro;
- Chicharro, Pablo;
- Muñoz, Elia;
- Dauden, Esteban
Publication type:
Article
Multiple copy number variants in a pediatric patient with Hb H disease and intellectual disability.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 986, doi. 10.1002/ajmg.a.37532
By:
- Scheps, Karen G.;
- Francipane, Liliana;
- Nevado, Julián;
- Basack, Nora;
- Attie, Myriam;
- Bergonzi, María Fernanda;
- Cerrone, Gloria E.;
- Lapunzina, Pablo;
- Varela, Viviana
Publication type:
Article
Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 992, doi. 10.1002/ajmg.a.37533
By:
- Rosti, Rasim O.;
- Dikoglu, Esra;
- Zaki, Maha S.;
- Abdel‐Salam, Ghada;
- Makhseed, Nawal;
- Sese, Jordan C.;
- Musaev, Damir;
- Rosti, Basak;
- Harbert, Mary J.;
- Jones, Marilyn C.;
- Vaux, Keith K.;
- Gleeson, Joseph G.
Publication type:
Article
9p13.1p13.3 interstitial deletion: A case report and further delineation of a rare condition.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 1095, doi. 10.1002/ajmg.a.37534
By:
- Crone, Megan;
- Thomas, Mary Ann
Publication type:
Article
Sotos syndrome: An unusual presentation with intrauterine growth restriction, generalized lymphedema, and intention tremor.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 1064, doi. 10.1002/ajmg.a.37535
By:
- McClelland, Jessie;
- Burgess, Bronwyn;
- Crock, Patricia;
- Goel, Himanshu
Publication type:
Article
Auricular ossification: A newly recognized feature of osteoprotegerin-deficiency juvenile Paget disease.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 978, doi. 10.1002/ajmg.a.37536
By:
- Gottesman, Gary S.;
- Madson, Katherine L.;
- McAlister, William H.;
- Nenninger, Angela;
- Wenkert, Deborah;
- Mumm, Steven;
- Whyte, Michael P.
Publication type:
Article
Novel features of 3q29 deletion syndrome: Results from the 3q29 registry.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 999, doi. 10.1002/ajmg.a.37537
By:
- Glassford, Megan R.;
- Rosenfeld, Jill A.;
- Freedman, Alexa A.;
- Zwick, Michael E.;
- Mulle, Jennifer G.
Publication type:
Article
Family perspectives about Down syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 930, doi. 10.1002/ajmg.a.37520
By:
- Skotko, Brian G.;
- Levine, Susan P.;
- Macklin, Eric A.;
- Goldstein, Richard D.
Publication type:
Article
Clinical, cytogenetic, and molecular outcomes in a series of 66 patients with Pierre Robin sequence and literature review: 22q11.2 deletion is less common than other chromosomal anomalies.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 870, doi. 10.1002/ajmg.a.37538
By:
- Gomez‐Ospina, Natalia;
- Bernstein, Jonathan A.
Publication type:
Article
Expanding the ocular phenotype of 14q terminal deletions: A novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 1017, doi. 10.1002/ajmg.a.37436
By:
- Salter, Claire G.;
- Baralle, Diana;
- Collinson, Morag N.;
- Self, James E.
Publication type:
Article
Publication schedule for 2016.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 820, doi. 10.1002/ajmg.a.37310
Publication type:
Article
Precision medicine company takes aim at genetically based epilepsy.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 821, doi. 10.1002/ajmg.a.37311
Publication type:
Article
CLTC as a clinically novel gene associated with multiple malformations and developmental delay.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 958, doi. 10.1002/ajmg.a.37506
By:
- DeMari, Joseph;
- Mroske, Cameron;
- Tang, Sha;
- Nimeh, Joseph;
- Miller, Ryan;
- Lebel, Robert R.
Publication type:
Article
Evaluation of proton-coupled folate transporter ( SLC46A1) polymorphisms as risk factors for neural tube defects and oral clefts.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 1007, doi. 10.1002/ajmg.a.37539
By:
- VanderMeer, Julia E.;
- Carter, Tonia C.;
- Pangilinan, Faith;
- Mitchell, Adam;
- Kurnat‐Thoma, Emma;
- Kirke, Peadar N.;
- Troendle, James F.;
- Molloy, Anne M.;
- Munger, Ronald G.;
- Feldkamp, Marcia L.;
- Mansilla, Maria A.;
- Mills, James L.;
- Murray, Jeff C.;
- Brody, Lawrence C.
Publication type:
Article
Good response to long-term therapy with growth hormone in a patient with 9p trisomy syndrome: A case report and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 1046, doi. 10.1002/ajmg.a.37521
By:
- Canton, Ana Pinheiro Machado;
- Nishi, Mirian Yumie;
- Furuya, Tatiane Katsue;
- Roela, Rosimeire Aparecida;
- Jorge, Alexander Augusto Lima
Publication type:
Article
Trisomy 4 mosaicism: Delineation of the phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 1040, doi. 10.1002/ajmg.a.37522
By:
- Bouman, Arjan;
- van der Kevie‐Kersemaekers, Anne‐Marie;
- Huijsdens‐van Amsterdam, Karin;
- Dahhan, Nordin;
- Knegt, Lia;
- Vansenne, Fleur;
- Cobben, Jan Maarten
Publication type:
Article
Genotype/phenotype correlation in a female patient with 21q22.3 and 12p13.33 duplications.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 1050, doi. 10.1002/ajmg.a.37523
By:
- Mekkawy, Mona K.;
- Mazen, Inas M.;
- Kamel, Alaa K.;
- Vater, Inga;
- Zaki, Maha S.
Publication type:
Article
Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 949, doi. 10.1002/ajmg.a.37524
By:
- Bunyan, David J.;
- Baffico, Maria;
- Capone, Lucia;
- Vannelli, Silvia;
- Iughetti, Lorenzo;
- Schmitt, Sébastien;
- Taylor, Emma‐Jane;
- Herridge, Adam A.;
- Shears, Deborah;
- Forabosco, Antonino;
- Coviello, Domenico A.
Publication type:
Article
Is a prenatal diagnosis detrimental to the survival of a fetus with trisomy 18?
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 850, doi. 10.1002/ajmg.a.37525
By:
- Morris, Joan K.
Publication type:
Article
Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 852, doi. 10.1002/ajmg.a.37526
By:
- Takenouchi, Toshiki;
- Okamoto, Nobuhiko;
- Ida, Shinobu;
- Uehara, Tomoko;
- Kosaki, Kenjiro
Publication type:
Article
A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 1059, doi. 10.1002/ajmg.a.37527
By:
- Ha, Thuong T.;
- Sadleir, Lynette G.;
- Mandelstam, Simone A.;
- Paterson, Sarah J.;
- Scheffer, Ingrid E.;
- Gecz, Jozef;
- Corbett, Mark A.
Publication type:
Article
Muenke syndrome: An international multicenter natural history study.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 918, doi. 10.1002/ajmg.a.37528
By:
- Kruszka, Paul;
- Addissie, Yonit A.;
- Yarnell, Colin M. P.;
- Hadley, Donald W.;
- Guillen Sacoto, Maria J.;
- Platte, Petra;
- Paelecke, Yvonne;
- Collmann, Hartmut;
- Snow, Nicole;
- Schweitzer, Tilmann;
- Boyadjiev, Simeon A.;
- Aravidis, Christos;
- Hall, Samantha E.;
- Mulliken, John B.;
- Roscioli, Tony;
- Muenke, Maximilian
Publication type:
Article
Trisomy 18: A single-center evaluation of management trends and experience with aggressive obstetric or neonatal intervention.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 838, doi. 10.1002/ajmg.a.37529
By:
- Subramaniam, Akila;
- Jacobs, Adam P.;
- Tang, Ying;
- Neely, Cherry;
- Philips, Joseph B.;
- Biggio, Joseph R.;
- Robin, Nathaniel H.;
- Edwards, Rodney K.
Publication type:
Article
Letter to the editor: Response to two recent articles regarding achondroplasia.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 1099, doi. 10.1002/ajmg.a.37540
By:
- Pauli, Richard M.
Publication type:
Article
Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 1070, doi. 10.1002/ajmg.a.37541
By:
- Ejaz, Resham;
- Qin, Wen;
- Huang, Lijia;
- Blaser, Susan;
- Tetreault, Martine;
- Hartley, Taila;
- Boycott, Kym M.;
- Carter, Melissa T.
Publication type:
Article
12th International CHARGE syndrome conference proceedings.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 856, doi. 10.1002/ajmg.a.37544
By:
- Martin, Donna M.;
- Salem‐Hartshorne, Nancy;
- Hartshorne, Timothy S.;
- Scacheri, Peter C.;
- Hefner, Margaret A.
Publication type:
Article
A novel TUBB3 mutation in a sporadic patient with asymmetric cortical dysplasia.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 1076, doi. 10.1002/ajmg.a.37545
By:
- Shimojima, Keiko;
- Okamoto, Nobuhiko;
- Yamamoto, Toshiyuki
Publication type:
Article
Response: 'Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy' and 'is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia?'.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 1101, doi. 10.1002/ajmg.a.37546
By:
- White, Klane K.;
- Savarirayan, Ravi;
- Goldberg, Michael J.;
- MacKenzie, William;
- Bompadre, Viviana;
- Bober, Michael B.;
- Cho, Tae‐Joon;
- Hoover‐Fong, Julie;
- Parnell, Shawn E.;
- Raggio, Cathleen;
- Spencer, Samantha A.;
- Campbell, Jeffery W.;
- Rapoport, David M.;
- Kifle, Yemiserach;
- Blackledge, Marcella
Publication type:
Article
An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 1080, doi. 10.1002/ajmg.a.37547
By:
- Mackenroth, Luisa;
- Fischer‐Zirnsak, Björn;
- Egerer, Johannes;
- Hecht, Jochen;
- Kallinich, Tilmann;
- Stenzel, Werner;
- Spors, Birgit;
- von Moers, Arpad;
- Mundlos, Stefan;
- Kornak, Uwe;
- Gerhold, Kerstin;
- Horn, Denise
Publication type:
Article
Three new cases of terminal deletion of the long arm of chromosome 7 and literature review to correlate genotype and phenotype manifestations.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 896, doi. 10.1002/ajmg.a.37428
By:
- Ayub, Seemi;
- Gadji, Macoura;
- Krabchi, Kada;
- Côté, Sylvie;
- Gekas, Jean;
- Maranda, Bruno;
- Drouin, Régen
Publication type:
Article
Does medical intervention affect outcome in infants with trisomy 18 or trisomy 13?
Published in:
2016
By:
- Kosho, Tomoki;
- Carey, John C.
Publication type:
Editorial
Spectrum of gene variants linked to cystic fibrosis in nonwhites.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 822, doi. 10.1002/ajmg.a.37615
Publication type:
Article
In this issue.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 824, doi. 10.1002/ajmg.a.37616
Publication type:
Article
Table of Contents, Volume 170A, Number 4, April 2016.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 815, doi. 10.1002/ajmg.a.37309
Publication type:
Article