Works matching IS 15524825 AND DT 2017 AND VI 173 AND IP 10

Results: 48

A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2803, doi. 10.1002/ajmg.a.38390

By:

Weissbach, Susann;
Reinert, Marie‐Christine;
Altmüller, Janine;
Krätzner, Ralph;
Thiele, Holger;
Rosenbaum, Thorsten;
Nürnberg, Peter;
Gärtner, Jutta

Publication type:

Article

A novel genetic syndrome with STARD9 mutation and abnormal spindle morphology.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2690, doi. 10.1002/ajmg.a.38391

By:

Okamoto, Nobuhiko;
Tsuchiya, Yuki;
Miya, Fuyuki;
Tsunoda, Tatsuhiko;
Yamashita, Kumiko;
Boroevich, Keith A.;
Kato, Mitsuhiro;
Saitoh, Shinji;
Yamasaki, Mami;
Kanemura, Yonehiro;
Kosaki, Kenjiro;
Kitagawa, Daiju

Publication type:

Article

Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2697, doi. 10.1002/ajmg.a.38393

By:

Nabhan, Marwa M.;
ElKhateeb, Nour;
Braun, Daniela A.;
Eun, Sungho;
Saleem, Sahar N.;
YungGee, Heon;
Hildebrandt, Friedhelm;
Soliman, Neveen A.

Publication type:

Article

Diaphanospondylodysostosis and ischiospinal dysostosis, evidence for one disorder with variable expression in a patient who has survived to age 9 years.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2808, doi. 10.1002/ajmg.a.38395

By:

Legare, Janet M.;
Seaborg, Kristin;
Laffin, Jennifer;
Giampietro, Philip F.

Publication type:

Article

A splice-site variant in ANKRD11 associated with classical KBG syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2844, doi. 10.1002/ajmg.a.38397

By:

Low, Karen J.;
Hills, Alison;
Williams, Maggie;
Duff‐Farrier, Celia;
McKee, Shane;
Smithson, Sarah F.

Publication type:

Article

Progressive macrothrombocytopenia and hearing loss in a large family with DIAPH1 related disease.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2826, doi. 10.1002/ajmg.a.38411

By:

Ganaha, Akira;
Kaname, Tadashi;
Shinjou, Ayano;
Chinen, Yasutsugu;
Yanagi, Kumiko;
Higa, Teruyuki;
Kondo, Shunsuke;
Suzuki, Mikio

Publication type:

Article

Continuous hypomethylation of the KCNQ1OT1:TSS-DMR in monochorionic twins discordant for Beckwith-Wiedemann syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2847, doi. 10.1002/ajmg.a.38419

By:

Inoue, Takanobu;
Nakamura, Akie;
Matsubara, Keiko;
Nyuzuki, Hiromi;
Nagasaki, Keisuke;
Oka, Akira;
Fukami, Maki;
Kagami, Masayo

Publication type:

Article

Table of Contents, Volume 173A, Number 10, October 2017.

Published in:: 2017
Publication type:: Other

Publication schedule for 2017.

Published in:: 2017
Publication type:: Other

In this issue.

Published in:: 2017
Publication type:: Other

Cover Image, Volume 173A, Number 10, October 2017.

Published in:

2017

By:

Bashir, Rani A.;
Dixit, Abhijit;
Goedhart, Caitlin;
Parboosingh, Jillian S.;
Innes, Allan M.;
Ferreira, Patrick;
Hasan, Shabih U.;
Au, Ping‐Yee B.

Publication type:

Other

Genome-wide cell free fetal DNA screening spots variations standard screening doesn't.

Published in:: 2017
Publication type:: Other

New intellectual disability syndrome identified.

Published in:: 2017
Publication type:: Other

Variable expressivity and incomplete penetrance in a large family with non-classical Diamond-Blackfan anemia associated with ribosomal protein L11 splicing variant.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2622, doi. 10.1002/ajmg.a.38360

By:

Carlston, Colleen M.;
Afify, Zeinab A.;
Palumbos, Janice C.;
Bagley, Heidi;
Barbagelata, Carlos;
Wooderchak‐Donahue, Whitney L.;
Mao, Rong;
Carey, John C.

Publication type:

Article

Vitamin D levels in Smith-Lemli-Opitz syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2577, doi. 10.1002/ajmg.a.38361

By:

Movassaghi, Miyad;
Bianconi, Simona;
Feinn, Richard;
Wassif, Christopher A.;
Porter, Forbes D.

Publication type:

Article

Co-occurrence of Sturge-Weber syndrome and Klippel-Trenaunay-Weber syndrome phenotype: Consideration of the historical aspect.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2831, doi. 10.1002/ajmg.a.38363

By:

Sakaguchi, Yuri;
Takenouchi, Toshiki;
Uehara, Tomoko;
Kishi, Kazuo;
Takahashi, Takao;
Kosaki, Kenjiro

Publication type:

Article

Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2743, doi. 10.1002/ajmg.a.38367

By:

Cappuccio, Gerarda;
Pinelli, Michele;
Torella, Annalaura;
Alagia, Marianna;
Auricchio, Renata;
Staiano, Annamaria;
Nigro, Vincenzo;
Brunetti‐Pierri, Nicola

Publication type:

Article

Additional report on Moreno-Nishimura-Schmidt overgrowth syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2834, doi. 10.1002/ajmg.a.38368

By:

Handa, Atsuhiko;
Muroya, Koji;
Ishii, Tomohiro;
Nishimura, Gen

Publication type:

Article

Three cases of multi-generational Pompe disease: Are current practices missing diagnostic and treatment opportunities?

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2628, doi. 10.1002/ajmg.a.38369

By:

McIntosh, Paul;
Austin, Stephanie;
Sullivan, Jennifer;
Bailey, Lauren;
Bailey, Carrie;
Viskochil, David;
Kishnani, Priya S.

Publication type:

Article

Stakeholders in psychiatry and their attitudes toward receiving pertinent and incident findings in genomic research.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2649, doi. 10.1002/ajmg.a.38380

By:

Sundby, Anna;
Boolsen, Merete W.;
Burgdorf, Kristoffer S.;
Ullum, Henrik;
Hansen, Thomas F.;
Middleton, Anna;
Mors, Ole

Publication type:

Article

New intragenic rearrangements in non-Finnish mulibrey nanism.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2782, doi. 10.1002/ajmg.a.38381

By:

Jobic, Florence;
Morin, Gilles;
Vincent‐Delorme, Catherine;
Cadet, Estelle;
Cabry, Rosalie;
Mathieu‐Dramard, Michèle;
Copin, Henri;
Rochette, Jacques;
Jedraszak, Guillaume

Publication type:

Article

Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2789, doi. 10.1002/ajmg.a.38383

By:

Abbott, Megan;
Jain, Mahim;
Pferdehirt, Rachel;
Chen, Yuqing;
Tran, Alyssa;
Duz, Mehmet B.;
Seven, Mehmet;
Gibbs, Richard A.;
Muzny, Donna;
Lee, Brendan;
Marom, Ronit;
Burrage, Lindsay C.

Publication type:

Article

Paternal transmission of a FMR1 full mutation allele.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2795, doi. 10.1002/ajmg.a.38384

By:

Alvarez‐Mora, Maria Isabel;
Guitart, Miriam;
Rodriguez‐Revenga, Laia;
Madrigal, Irene;
Gabau, Elisabeth;
Milà, Montserrat

Publication type:

Article

Two unrelated children with overlapping 6q25.3 deletions, motor speech disorders, and language delays.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2659, doi. 10.1002/ajmg.a.38385

By:

Peter, Beate;
Lancaster, Hope;
Vose, Caitlin;
Fares, Amna;
Schrauwen, Isabelle;
Huentelman, Matthew

Publication type:

Article

Interstitial deletion 5p14.1-p15.2 and 5q14.3-q23.2 in a patient with clubfoot, blepharophimosis, arthrogryposis, and multiple congenital abnormalities.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2798, doi. 10.1002/ajmg.a.38386

By:

Balta, Burhan;
Erdogan, Murat;
Ergul, Ayse B.;
Sahin, Yavuz;
Ozcan, Alper

Publication type:

Article

Congenital neurodevelopmental anomalies in pediatric and young adult cancer.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2670, doi. 10.1002/ajmg.a.38387

By:

Wong‐Siegel, Jeannette R.;
Johnson, Kimberly J.;
Gettinger, Katie;
Cousins, Nicole;
McAmis, Nicole;
Zamarione, Ashley;
Druley, Todd E.

Publication type:

Article

Clinical and molecular characterization of de novo loss of function variants in HNRNPU.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2680, doi. 10.1002/ajmg.a.38388

By:

Leduc, Magalie S.;
Chao, Hsiao‐Tuan;
Qu, Chunjing;
Walkiewicz, Magdalena;
Xiao, Rui;
Magoulas, Pilar;
Pan, Shujuan;
Beuten, Joke;
He, Weimin;
Bernstein, Jonathan A.;
Schaaf, Christian P.;
Scaglia, Fernando;
Eng, Christine M.;
Yang, Yaping

Publication type:

Article

A novel heterozygous mutation in FGFR2 gene causing Pfeiffer syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2838, doi. 10.1002/ajmg.a.38389

By:

Machado, Renato A.;
Ferreira, Shirlene B.;
Martins, Luciane;
Ribeiro, Mariana M.;
Martelli, Daniella R. B.;
Coletta, Ricardo D.;
Aguiar, Marcos J. B.;
Martelli‐Júnior, Hercílio

Publication type:

Article

Prevalence of gastrointestinal symptoms in Angelman syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2703, doi. 10.1002/ajmg.a.38401

By:

Glassman, Laura W.;
Grocott, Olivia R.;
Kunz, Portia A.;
Larson, Anna M.;
Zella, Garrett;
Ganguli, Kriston;
Thibert, Ronald L.

Publication type:

Article

Estimation of live birth and population prevalence of Down syndrome in nine U.S. states.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2710, doi. 10.1002/ajmg.a.38402

By:

de Graaf, Gert;
Buckley, Frank;
Dever, Jennifer;
Skotko, Brian G.

Publication type:

Article

Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2596, doi. 10.1002/ajmg.a.38355

By:

Bashir, Rani A.;
Dixit, Abhijit;
Goedhart, Caitlin;
Parboosingh, Jillian S.;
Innes, Allan M.;
Ferreira, Patrick;
Hasan, Shabih U.;
Au, Ping‐Yee B.

Publication type:

Article

Preaxial polydactyly in an individual with Wiedemann-Steiner syndrome caused by a novel nonsense mutation in KMT2A.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2821, doi. 10.1002/ajmg.a.38405

By:

Enokizono, Takashi;
Ohto, Tatsuyuki;
Tanaka, Ryuta;
Tanaka, Mai;
Suzuki, Hisato;
Sakai, Aiko;
Imagawa, Kazuo;
Fukushima, Hiroko;
Iwabuti, Atsushi;
Fukushima, Takashi;
Sumazaki, Ryo;
Uehara, Tomoko;
Takenouchi, Toshiki;
Kosaki, Kenjiro

Publication type:

Article

Whole exome sequencing identified genetic variations in Chinese hemangioblastoma patients.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2605, doi. 10.1002/ajmg.a.38350

By:

Ma, Dexuan;
Yang, Jingyun;
Wang, Ying;
Huang, Xiang;
Du, Guhong;
Zhou, Liangfu

Publication type:

Article

Co-occurring Down syndrome and SUCLA2-related mitochondrial depletion syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2720, doi. 10.1002/ajmg.a.38351

By:

Couser, Natario L.;
Marchuk, Daniel S.;
Smith, Laurie D.;
Arreola, Alexandra;
Kaiser‐Rogers, Kathleen A.;
Muenzer, Joseph;
Pandya, Arti;
Gucsavas‐Calikoglu, Muge;
Powell, Cynthia M.

Publication type:

Article

De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2725, doi. 10.1002/ajmg.a.38352

By:

Ejaz, Resham;
Lionel, Anath C.;
Blaser, Susan;
Walker, Susan;
Scherer, Stephen W.;
Babul‐Hirji, Riyana;
Marshall, Christian R.;
Stavropoulos, Dimitri J.;
Chitayat, David

Publication type:

Article

The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2814, doi. 10.1002/ajmg.a.38404

By:

Helm, Benjamin M.;
Powis, Zoe;
Prada, Carlos E.;
Casasbuenas‐Alarcon, Olga L.;
Balmakund, Tonya;
Schaefer, G. B.;
Kahler, Stephen G.;
Kaylor, Julie;
Winter, Susan;
Zarate, Yuri A.;
Schrier Vergano, Samantha A.

Publication type:

Article

The phenotype of EZH2 haploinsufficiency-1.2-Mb deletion at 7q36.1 in a child with tall stature and intellectual disability.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2731, doi. 10.1002/ajmg.a.38356

By:

Suri, Tanay;
Dixit, Abhijit

Publication type:

Article

Best practices in peri-operative management of patients with skeletal dysplasias.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2584, doi. 10.1002/ajmg.a.38357

By:

White, Klane K.;
Bompadre, Viviana;
Goldberg, Michael J.;
Bober, Michael B.;
Cho, Tae‐Joon;
Hoover‐Fong, Julie E.;
Irving, Melita;
Mackenzie, William G.;
Kamps, Shawn E.;
Raggio, Cathleen;
Redding, Gregory J.;
Spencer, Samantha S.;
Savarirayan, Ravi;
Theroux, Mary C.

Publication type:

Article

Congenital disorders of glycosylation: The Saudi experience.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2614, doi. 10.1002/ajmg.a.38358

By:

Alsubhi, Sarah;
Alhashem, Amal;
Faqeih, Eissa;
Alfadhel, Majid;
Alfaifi, Abdullah;
Altuwaijri, Waleed;
Alsahli, Saud;
Aldhalaan, Hesham;
Alkuraya, Fowzan S.;
Hundallah, Khalid;
Mahmoud, Adel;
Alasmari, Ali;
Mutairi, Fuad Al;
Abduraouf, Hanem;
AlRasheed, Layan;
Alshahwan, Saad;
Tabarki, Brahim

Publication type:

Article

Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomalies.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2736, doi. 10.1002/ajmg.a.38359

By:

Porrmann, Joseph;
Betcheva‐Krajcir, Elitza;
Di Donato, Nataliya;
Kahlert, Anne‐Karin;
Schallner, Jens;
Rump, Andreas;
Schröck, Evelin;
Dobritzsch, Doreen;
Roelofsen, Jeroen;
van Kuilenburg, André B. P.;
Tzschach, Andreas

Publication type:

Article

Monoallelic FGFR3 and Biallelic ALPL mutations in a Thai girl with hypochondroplasia and hypophosphatasia.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2747, doi. 10.1002/ajmg.a.38370

By:

Porntaveetus, Thantrira;
Srichomthong, Chalurmpon;
Suphapeetiporn, Kanya;
Shotelersuk, Vorasuk

Publication type:

Article

Factors related to home health-care transition in trisomy 13.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2635, doi. 10.1002/ajmg.a.38371

By:

Kitase, Yuma;
Hayakawa, Masahiro;
Kondo, Taiki;
Saito, Akiko;
Tachibana, Takashi;
Oshiro, Makoto;
Ieda, Kuniko;
Kato, Eiko;
Kato, Yuichi;
Hattori, Tetsuo;
Hayashi, Seiji;
Ito, Masatoki;
Hyodo, Reina;
Muramatsu, Yukako;
Sato, Yoshiaki

Publication type:

Article

The pregnancy in neurofibromatosis 1: A retrospective register-based total population study.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2641, doi. 10.1002/ajmg.a.38372

By:

Leppävirta, Jussi;
Kallionpää, Roope A.;
Uusitalo, Elina;
Vahlberg, Tero;
Pöyhönen, Minna;
Timonen, Susanna;
Peltonen, Juha;
Peltonen, Sirkku

Publication type:

Article

Epilepsy in fragile-X-syndrome mimicking panayiotopoulos syndrome: Description of three patients.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2753, doi. 10.1002/ajmg.a.38373

By:

Bonanni, Paolo;
Casellato, Susanna;
Fabbro, Franco;
Negrin, Susanna

Publication type:

Article

A human case of SLC35A3-related skeletal dysplasia.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2758, doi. 10.1002/ajmg.a.38374

By:

Edmondson, Andrew C.;
Bedoukian, Emma C.;
Deardorff, Matthew A.;
McDonald‐McGinn, Donna M.;
Li, Xueli;
He, Miao;
Zackai, Elaine H.

Publication type:

Article

Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2763, doi. 10.1002/ajmg.a.38375

By:

Telegrafi, Aida;
Webb, Bryn D.;
Robbins, Sarah M.;
Speck‐Martins, Carlos E.;
FitzPatrick, David;
Fleming, Leah;
Redett, Richard;
Dufke, Andreas;
Houge, Gunnar;
van Harssel, Jeske J. T.;
Verloes, Alain;
Robles, Angela;
Manoli, Irini;
Engle, Elizabeth C.;
Jabs, Ethylin W.;
Valle, David;
Carey, John;
Hoover‐Fong, Julie E.;
Sobreira, Nara L. M.

Publication type:

Article

ALG13-CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2772, doi. 10.1002/ajmg.a.38377

By:

Gadomski, Therese E.;
Bolton, Melody;
Alfadhel, Majid;
Dvorak, Chris;
Ogunsakin, Olalekan A.;
Nelson, Stephen L.;
Morava, Eva

Publication type:

Article

Prenatal presentation of Mabry syndrome with congenital diaphragmatic hernia and phenotypic overlap with Fryns syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2776, doi. 10.1002/ajmg.a.38379

By:

Reynolds, Kara K.;
Juusola, Jane;
Rice, Gregory M.;
Giampietro, Philip F.

Publication type:

Article