Works matching IS 15524825 AND DT 2017 AND VI 173 AND IP 11

Results: 36

The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 3022, doi. 10.1002/ajmg.a.38485
By:
- Shen, Wei;
- Heeley, Jennifer M.;
- Carlston, Colleen M.;
- Acuna‐Hidalgo, Rocio;
- Nillesen, Willy M.;
- Dent, Karin M.;
- Douglas, Ganka V.;
- Levine, Kara L.;
- Bayrak‐Toydemir, Pinar;
- Marcelis, Carlo L.;
- Shinawi, Marwan;
- Carey, John C.
Publication type:
Article
A cohort study of multiple families with FBN1 p.R650C variant, ectopia lentis, and low but not absent risk for aortopathy.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 2995, doi. 10.1002/ajmg.a.38489
By:
- Vatti, Lohith;
- Fitzgerald‐Butt, Sara M.;
- McBride, Kim L.
Publication type:
Article
Opitz award paper describes skeletal disorder.
Published in:
2017
Publication type:
Other
Clinical Report: Warsaw Breakage Syndrome with small radii and fibulae.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 3075, doi. 10.1002/ajmg.a.38382
By:
- Eppley, Sarah;
- Hopkin, Robert J.;
- Mendelsohn, Bryce;
- Slavotinek, Anne M.
Publication type:
Article
Experiences in feeding and gastrointestinal dysfunction in children with CHARGE syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 2947, doi. 10.1002/ajmg.a.38458
By:
- Macdonald, Meghan;
- Hudson, Alexandra;
- Bladon, Angela;
- Ratcliffe, Elyanne;
- Blake, Kim
Publication type:
Article
Genotypic-phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 2954, doi. 10.1002/ajmg.a.38459
By:
- Kılıç, Mustafa;
- Dursun, Ali;
- Coşkun, Turgay;
- Tokatlı, Ayşegül;
- Özgül, Rıza K.;
- Yücel‐Yılmaz, Didem;
- Karaca, Mehmet;
- Doğru, Deniz;
- Alehan, Dursun;
- Kadayıfçılar, Sibel;
- Genç, Aydan;
- Turan‐Dizdar, Handan;
- Gönüldaş, Burhanettin;
- Savcı, Sema;
- Sağlam, Melda;
- Aksoy, Cemalettin;
- Arslan, Umut;
- Sivri, Hatice‐Serap
Publication type:
Article
Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 3087, doi. 10.1002/ajmg.a.38400
By:
- Thibodeau, My Linh;
- Peters, Colin H.;
- Townsend, Katelin N.;
- Shen, Yaoqing;
- Hendson, Glenda;
- Adam, Shelin;
- Selby, Kathryn;
- Macleod, Patrick M.;
- Gershome, Cynthia;
- Ruben, Peter;
- Jones, Steven J. M.;
- Friedman, Jan M.;
- Gibson, William T.;
- Horvath, Gabriella A.
Publication type:
Article
Coexistence of mutations in keratin 10 (KRT10) and the mitochondrial genome in a patient with ichthyosis with confetti and Leber's hereditary optic neuropathy.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 3093, doi. 10.1002/ajmg.a.38403
By:
- Kalinska‐Bienias, Agnieszka;
- Pollak, Agnieszka;
- Kowalewski, Cezary;
- Lechowicz, Urszula;
- Stawinski, Piotr;
- Gergont, Aleksandra;
- Kosinska, Joanna;
- Pronicka, Ewa;
- Kowalski, Pawel;
- Wozniak, Katarzyna;
- Ploski, Rafal
Publication type:
Article
Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 3098, doi. 10.1002/ajmg.a.38406
By:
- Said, Edith;
- Chong, Jessica X.;
- Hempel, Maja;
- Denecke, Jonas;
- Soler, Paul;
- Strom, Tim;
- Nickerson, Deborah A.;
- Kubisch, Christian;
- Bamshad, Michael J.;
- Lessel, Davor
Publication type:
Article
Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 3104, doi. 10.1002/ajmg.a.38407
By:
- Van Paemel, Ruben;
- De Bruyne, Pauline;
- van der Straaten, Saskia;
- D'hondt, Marleen;
- Fränkel, Urlien;
- Dheedene, Annelies;
- Menten, Björn;
- Callewaert, Bert
Publication type:
Article
Testing the face shape hypothesis in twins discordant for nonsyndromic orofacial clefting.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 2886, doi. 10.1002/ajmg.a.38471
By:
- Roosenboom, Jasmien;
- Indencleef, Karlijne;
- Hens, Greet;
- Peeters, Hilde;
- Christensen, Kaare;
- Marazita, Mary L.;
- Claes, Peter;
- Leslie, Elizabeth J.;
- Weinberg, Seth M.
Publication type:
Article
Mutations in folate transporter genes and risk for human myelomeningocele.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 2973, doi. 10.1002/ajmg.a.38472
By:
- Findley, Tina O.;
- Tenpenny, Joy C.;
- O'Byrne, Michelle R.;
- Morrison, Alanna C.;
- Hixson, James E.;
- Northrup, Hope;
- Au, Kit Sing
Publication type:
Article
Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 3114, doi. 10.1002/ajmg.a.38475
By:
- Busa, Tiffany;
- Jeraiby, Mohammed;
- Clémenson, Alix;
- Manouvrier, Sylvie;
- Granados, Viviana;
- Philip, Nicole;
- Touraine, Renaud
Publication type:
Article
Women who carry a fragile X premutation are biologically older than noncarriers as measured by telomere length.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 2985, doi. 10.1002/ajmg.a.38476
By:
- Albizua, Igor;
- Rambo‐Martin, Benjamin L.;
- Allen, Emily G.;
- He, Weiya;
- Amin, Ashima S.;
- Sherman, Stephanie L.
Publication type:
Article
Finding the genetic mechanisms of folate deficiency and neural tube defects-Leaving no stone unturned.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 3042, doi. 10.1002/ajmg.a.38478
By:
- Au, Kit Sing;
- Findley, Tina O.;
- Northrup, Hope
Publication type:
Article
HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 3070, doi. 10.1002/ajmg.a.38354
By:
- Farrell, Sandra A.;
- Sodhi, Sandi;
- Marshall, Christian R.;
- Guerin, Andrea;
- Slavotinek, Anne;
- Paton, Tara;
- Chong, Karen;
- Sirkin, Wilma L.;
- Scherer, Stephen W.;
- Bérubé‐Simard, Félix‐Antoine;
- Pilon, Nicolas
Publication type:
Article
Prenatal diagnosis of femoral facial syndrome: Three case reports and literature review.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 2923, doi. 10.1002/ajmg.a.38420
By:
- Luisin, Marion;
- Chevreau, Julien;
- Klein, Céline;
- Naepels, Philippe;
- Demeer, Bénédicte;
- Mathieu‐Dramard, Michèle;
- Jedraszak, Guillaume;
- Gondry‐Jouet, Catherine;
- Gondry, Jean;
- Dieux‐Coeslier, Anne;
- Morin, Gilles
Publication type:
Article
De novo mutations in HNRNPU result in a neurodevelopmental syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 3003, doi. 10.1002/ajmg.a.38492
By:
- Yates, T. Michael;
- Vasudevan, Pradeep C.;
- Chandler, Kate E.;
- Donnelly, Deirdre E;
- Stark, Zornitza;
- Sadedin, Simon;
- Willoughby, Josh;
- Balasubramanian, Meena
Publication type:
Article
Cautious approach to genome editing urged.
Published in:
2017
Publication type:
Other
Cover Image, Volume 173A, Number 11, November 2017.
Published in:
2017
By:
- Justice, Cristina M.;
- Kim, Jinoh;
- Kim, Sun‐Don;
- Kim, Kyunhgho;
- Yagnik, Garima;
- Cuellar, Araceli;
- Carrington, Blake;
- Lu, Chung‐Ling;
- Sood, Raman;
- Boyadjiev, Simeon A.;
- Wilson, Alexander F.
Publication type:
Other
A variant associated with sagittal nonsyndromic craniosynostosis alters the regulatory function of a non-coding element.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 2893, doi. 10.1002/ajmg.a.38392
By:
- Justice, Cristina M.;
- Kim, Jinoh;
- Kim, Sun‐Don;
- Kim, Kyunhgho;
- Yagnik, Garima;
- Cuellar, Araceli;
- Carrington, Blake;
- Lu, Chung‐Ling;
- Sood, Raman;
- Boyadjiev, Simeon A.;
- Wilson, Alexander F.
Publication type:
Article
Noncompaction cardiomyopathy in an infant with Walker-Warburg syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 3082, doi. 10.1002/ajmg.a.38394
By:
- Abdullah, Sarah;
- Hawkins, Cynthia;
- Wilson, Gregory;
- Yoon, Grace;
- Mertens, Luc;
- Carter, Melissa T.;
- Guerin, Andrea
Publication type:
Article
Intrafamilial variability of the triphalangeal thumb phenotype in a Dutch population: Evidence for phenotypic progression over generations?
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 2898, doi. 10.1002/ajmg.a.38398
By:
- Baas, Martijn;
- Potuijt, Jacob W.P.;
- Hovius, Steven E.R.;
- Hoogeboom, A. Jeannette M.;
- Galjaard, Robert‐Jan H.;
- van Nieuwenhoven, Christianne A.
Publication type:
Article
The facial morphology in Down syndrome: A 3D comparison of patients with and without obstructive sleep apnea.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 3013, doi. 10.1002/ajmg.a.38399
By:
- Jayaratne, Yasas S. N.;
- Elsharkawi, Ibrahim;
- Macklin, Eric A.;
- Voelz, Lauren;
- Weintraub, Gil;
- Rosen, Dennis;
- Skotko, Brian G.
Publication type:
Article
The Influence of trisomy 21 on facial form and variability.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 2861, doi. 10.1002/ajmg.a.38464
By:
- Starbuck, John M.;
- Cole, Theodore M.;
- Reeves, Roger H.;
- Richtsmeier, Joan T.
Publication type:
Article
Pharmacological interventions to improve cognition and adaptive functioning in Down syndrome: Strides to date.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 3029, doi. 10.1002/ajmg.a.38465
By:
- Hart, Sarah J.;
- Visootsak, Jeannie;
- Tamburri, Paul;
- Phuong, Patrick;
- Baumer, Nicole;
- Hernandez, Maria‐Clemencia;
- Skotko, Brian G.;
- Ochoa‐Lubinoff, Cesar;
- Liogier D'Ardhuy, Xavier;
- Kishnani, Priya S.;
- Spiridigliozzi, Gail A.
Publication type:
Article
Variable phenotypic expression in a large Noonan syndrome family segregating a novel SOS1 mutation.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 2968, doi. 10.1002/ajmg.a.38466
By:
- van Trier, Dorothée C.;
- Rinne, Tuula;
- Noordam, Kees;
- Draaisma, Jos M.;
- van der Burgt, Ineke
Publication type:
Article
Expected weight gain for children with microcephalic osteodysplastic primordial dwarfism type II.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 3067, doi. 10.1002/ajmg.a.38467
By:
- Duker, Angela L.;
- Niiler, Timothy;
- Bober, Michael B.
Publication type:
Article
Clinical and risk factor analysis of cloacal defects in the National Birth Defects Prevention Study.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 2873, doi. 10.1002/ajmg.a.38469
By:
- Keppler‐Noreuil, Kim M.;
- Conway, Kristin M.;
- Shen, Dereck;
- Rhoads, Anthony J.;
- Carey, John C.;
- Romitti, Paul A.
Publication type:
Article
Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 2906, doi. 10.1002/ajmg.a.38412
By:
- Ng, Bobby G.;
- Asteggiano, Carla G.;
- Kircher, Martin;
- Buckingham, Kati J.;
- Raymond, Kimiyo;
- Nickerson, Deborah A.;
- Shendure, Jay;
- Bamshad, Michael J.;
- Ensslen, Matthias;
- Freeze, Hudson H.
Publication type:
Article
Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 3109, doi. 10.1002/ajmg.a.38414
By:
- Straussberg, Rachel;
- Onoufriadis, Alexandros;
- Konen, Osnat;
- Zouabi, Yasmin;
- Cohen, Lior;
- Lee, John Y.W.;
- Hsu, Chao‐Kai;
- Simpson, Michael A.;
- McGrath, John A.
Publication type:
Article
Challenges in measuring the effects of pharmacological interventions on cognitive and adaptive functioning in individuals with Down syndrome: A systematic review.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 3058, doi. 10.1002/ajmg.a.38416
By:
- Keeling, Lori A.;
- Spiridigliozzi, Gail A.;
- Hart, Sarah J.;
- Baker, Jane A.;
- Jones, Harrison N.;
- Kishnani, Priya S.
Publication type:
Article
Congenital heart defects in molecularly proven Kabuki syndrome patients.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 2912, doi. 10.1002/ajmg.a.38417
By:
- Digilio, Maria Cristina;
- Gnazzo, Maria;
- Lepri, Francesca;
- Dentici, Maria Lisa;
- Pisaneschi, Elisa;
- Baban, Anwar;
- Passarelli, Chiara;
- Capolino, Rossella;
- Angioni, Adriano;
- Novelli, Antonio;
- Marino, Bruno;
- Dallapiccola, Bruno
Publication type:
Article
Table of Contents, Volume 173A, Number 9, September 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