Works matching IS 15524825 AND DT 2016 AND VI 170A AND IP 10

Results: 38

Table of Contents, Volume 170A, Number 10, October 2016.
Published in:
2016
Publication type:
Other
Publication schedule for 2016.
Published in:
2016
Publication type:
Other
In this issue.
Published in:
2016
Publication type:
Other
The natural history of a clinical geneticist.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2591, doi. 10.1002/ajmg.a.37732
By:
- Nowaczyk, Małgorzata J.
Publication type:
Article
Emerging targeted drug therapies in skeletal dysplasias.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2596, doi. 10.1002/ajmg.a.37734
By:
- Yap, Patrick;
- Savarirayan, Ravi
Publication type:
Article
Update on the Toriello-Carey syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2551, doi. 10.1002/ajmg.a.37735
By:
- Toriello, Helga V.;
- Colley, Chelsey;
- Bamshad, Michael
Publication type:
Article
Objective studies of the face of Noonan, Cardio-facio-cutaneous, and Costello syndromes: A comparison of three disorders of the Ras/MAPK signaling pathway.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2570, doi. 10.1002/ajmg.a.37736
By:
- Allanson, Judith E.
Publication type:
Article
Somatic AKT1 mutations cause meningiomas colocalizing with a characteristic pattern of cranial hyperostosis.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2605, doi. 10.1002/ajmg.a.37737
By:
- Keppler‐Noreuil, Kim M.;
- Baker, Eva H.;
- Sapp, Julie C.;
- Lindhurst, Marjorie J.;
- Biesecker, Leslie G.
Publication type:
Article
Sojourner in a foreign land.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2594, doi. 10.1002/ajmg.a.37738
By:
- Unger, Sheila
Publication type:
Article
Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2617, doi. 10.1002/ajmg.a.37739
By:
- Lin, Angela E.;
- Michot, Caroline;
- Cormier‐Daire, Valerie;
- L'Ecuyer, Thomas J.;
- Matherne, G. Paul;
- Barnes, Barrett H.;
- Humberson, Jennifer B.;
- Edmondson, Andrew C.;
- Zackai, Elaine;
- O'Connor, Matthew J.;
- Kaplan, Julie D.;
- Ebeid, Makram R.;
- Krier, Joel;
- Krieg, Elizabeth;
- Ghoshhajra, Brian;
- Lindsay, Mark E.
Publication type:
Article
Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2694, doi. 10.1002/ajmg.a.37803
By:
- Crawford, Joanna;
- Bower, Neil I.;
- Hogan, Benjamin M.;
- Taft, Ryan J.;
- Gabbett, Michael T.;
- McGaughran, Julie;
- Simons, Cas
Publication type:
Article
KCNK9 imprinting syndrome-further delineation of a possible treatable disorder.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2632, doi. 10.1002/ajmg.a.37740
By:
- Graham, John M.;
- Zadeh, Neda;
- Kelley, Melissa;
- Tan, Ee Shien;
- Liew, Wendy;
- Tan, Victoria;
- Deardorff, Matthew A.;
- Wilson, Golder N.;
- Sagi‐Dain, Lena;
- Shalev, Stavit A.
Publication type:
Article
GAUDEAMUS IGITUR...In gratitude to John Carey for his stewardship of the American Journal of Medical Genetics 2001-2016.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2501, doi. 10.1002/ajmg.a.37760
By:
- Opitz, John M.;
- Biesecker, Leslie G.;
- Hennekam, Raoul C.
Publication type:
Article
Establishing SON in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock-Carey syndrome phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2587, doi. 10.1002/ajmg.a.37761
By:
- Takenouchi, Toshiki;
- Miura, Kiyokuni;
- Uehara, Tomoko;
- Mizuno, Seiji;
- Kosaki, Kenjiro
Publication type:
Article
Jacobsen syndrome, Braddock-Carey syndrome, and Beyond: Reflections on intellectual disability accompanied with thrombocytopenia.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2578, doi. 10.1002/ajmg.a.37762
By:
- Takenouchi, Toshiki;
- Kosaki, Kenjiro
Publication type:
Article
Syndromes with supernumerary teeth.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2611, doi. 10.1002/ajmg.a.37763
By:
- Lubinsky, Mark;
- Kantaputra, Piranit Nik
Publication type:
Article
Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2559, doi. 10.1002/ajmg.a.37758
By:
- Gripp, Karen W.;
- Baker, Laura;
- Kandula, Vinay;
- Conard, Katrina;
- Scavina, Mena;
- Napoli, Joseph A.;
- Griffin, Gregory C.;
- Thacker, Mihir;
- Knox, Rachel G.;
- Clark, Graeme R.;
- Parker, Victoria E. R.;
- Semple, Robert;
- Mirzaa, Ghayda;
- Keppler‐Noreuil, Kim M.
Publication type:
Article
Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2644, doi. 10.1002/ajmg.a.37771
By:
- Di Donato, Nataliya;
- Kuechler, Alma;
- Vergano, Samantha;
- Heinritz, Wolfram;
- Bodurtha, Joann;
- Merchant, Sabiha R.;
- Breningstall, Galen;
- Ladda, Roger;
- Sell, Susan;
- Altmüller, Janine;
- Bögershausen, Nina;
- Timms, Andrew E.;
- Hackmann, Karl;
- Schrock, Evelin;
- Collins, Sarah;
- Olds, Carissa;
- Rump, Andreas;
- Dobyns, William B.
Publication type:
Article
Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2662, doi. 10.1002/ajmg.a.37778
By:
- Miyake, Noriko;
- Abdel‐Salam, Ghada;
- Yamagata, Takanori;
- Eid, Maha M.;
- Osaka, Hitoshi;
- Okamoto, Nobuhiko;
- Mohamed, Amal M.;
- Ikeda, Takahiro;
- Afifi, Hanan H.;
- Piard, Juliette;
- van Maldergem, Lionel;
- Mizuguchi, Takeshi;
- Miyatake, Satoko;
- Tsurusaki, Yoshinori;
- Matsumoto, Naomichi
Publication type:
Article
Temporal changes in chromosome abnormalities in human spontaneous abortions: Results of 40 years of analysis.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2671, doi. 10.1002/ajmg.a.37795
By:
- Hardy, Kathy;
- Hardy, Philip J.;
- Jacobs, Patricia A.;
- Lewallen, Kevin;
- Hassold, Terry J.
Publication type:
Article
4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2540, doi. 10.1002/ajmg.a.37796
By:
- Bi, Weimin;
- Cheung, Sau‐Wai;
- Breman, Amy M.;
- Bacino, Carlos A.
Publication type:
Article
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2681, doi. 10.1002/ajmg.a.37800
By:
- Menke, Leonie A.;
- van Belzen, Martine J.;
- Alders, Marielle;
- Cristofoli, Francesca;
- Ehmke, Nadja;
- Fergelot, Patricia;
- Foster, Alison;
- Gerkes, Erica H.;
- Hoffer, Mariëtte J. V.;
- Horn, Denise;
- Kant, Sarina G.;
- Lacombe, Didier;
- Leon, Eyby;
- Maas, Saskia M.;
- Melis, Daniela;
- Muto, Valentina;
- Park, Soo‐Mi;
- Peeters, Hilde;
- Peters, Dorien J. M.;
- Pfundt, Rolph
Publication type:
Article
Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2652, doi. 10.1002/ajmg.a.37772
By:
- Krakow, Deborah;
- Cohn, Daniel H.;
- Wilcox, William R.;
- Noh, Grace J.;
- Raffel, Leslie J.;
- Sarukhanov, Anna;
- Ivanova, Margarita H.;
- Danielpour, Moise;
- Grange, Dorothy K.;
- Elliott, Alison M.;
- Bernstein, Jonathan A.;
- Rimoin, David L.;
- Merrill, Amy E.;
- Lachman, Ralph S.
Publication type:
Article
Biallelic mutations in CYP26B1: A differential diagnosis for Pfeiffer and Antley-Bixler syndromes.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2706, doi. 10.1002/ajmg.a.37804
By:
- Morton, Jenny E. V.;
- Frentz, Sophia;
- Morgan, Tim;
- Sutherland‐Smith, Andrew J.;
- Robertson, Stephen P.
Publication type:
Article
Trisomy 18: A survey of opinions, attitudes, and practices of neonatologists.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2638, doi. 10.1002/ajmg.a.37807
By:
- Jacobs, Adam P.;
- Subramaniam, Akila;
- Tang, Ying;
- Philips, Joseph B.;
- Biggio, Joseph R.;
- Edwards, Rodney K.;
- Robin, Nathaniel H.
Publication type:
Article
Recognizable facial features in patients with alternating hemiplegia of childhood.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2698, doi. 10.1002/ajmg.a.37808
By:
- Gurrieri, Fiorella;
- Tiziano, Francesco Danilo;
- Zampino, Giuseppe;
- Neri, Giovanni
Publication type:
Article
Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2711, doi. 10.1002/ajmg.a.37809
By:
- Arunrut, Teda;
- Sabbadini, Marta;
- Jain, Mahim;
- Machol, Keren;
- Scaglia, Fernando;
- Slavotinek, Anne
Publication type:
Article
Annals of morphology fields and prepatterns. Editorial Festschrift for John C. Carey, MD, MPH.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2503, doi. 10.1002/ajmg.a.37810
By:
- Opitz, John M.
Publication type:
Article
Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2719, doi. 10.1002/ajmg.a.37817
By:
- Ranganath, Prajnya;
- Matta, Divya;
- Bhavani, Gandham SriLakshmi;
- Wangnekar, Savita;
- Jain, Jamal Mohammed Nurul;
- Verma, Ishwar C.;
- Kabra, Madhulika;
- Puri, Ratna Dua;
- Danda, Sumita;
- Gupta, Neerja;
- Girisha, Katta M.;
- Sankar, Vaikom H.;
- Patil, Siddaramappa J.;
- Ramadevi, Akella Radha;
- Bhat, Meenakshi;
- Gowrishankar, Kalpana;
- Mandal, Kausik;
- Aggarwal, Shagun;
- Tamhankar, Parag Mohan;
- Tilak, Preetha
Publication type:
Article
Genomic imbalance in the centromeric 11p15 imprinting center in three families: Further evidence of a role for IC2 as a cause of Russell-Silver syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2731, doi. 10.1002/ajmg.a.37819
By:
- Cytrynbaum, Cheryl;
- Chong, Karen;
- Hannig, Vickie;
- Choufani, Sanaa;
- Shuman, Cheryl;
- Steele, Leslie;
- Morgan, Thomas;
- Scherer, Stephen W.;
- Stavropoulos, Dimitri J.;
- Basran, Raveen K.;
- Weksberg, Rosanna
Publication type:
Article
Failure of ossification of the occipital bone in mandibuloacral dysplasia type B.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2750, doi. 10.1002/ajmg.a.37825
By:
- Haye, Damien;
- Dridi, Hend;
- Levy, Jonathan;
- Lambert, Véronique;
- Lambert, Maurice;
- Agha, Mohamed;
- Adjimi, Frédéric;
- Kohlhase, Jürgen;
- Lipsker, Dan;
- Verloes, Alain
Publication type:
Article
Spectrum of epilepsy and electroencephalogram patterns in idic (15) syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2531, doi. 10.1002/ajmg.a.37844
By:
- Battaglia, Agatino;
- Bernardini, Laura;
- Torrente, Isabella;
- Novelli, Antonio;
- Scarselli, Gloria
Publication type:
Article
Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2740, doi. 10.1002/ajmg.a.37852
By:
- Tenorio, Jair;
- Romanelli, Valeria;
- Martin‐Trujillo, Alex;
- Fernández, García‐Moya;
- Segovia, Mabel;
- Perandones, Claudia;
- Pérez Jurado, Luis A.;
- Esteller, Manel;
- Fraga, Mario;
- Arias, Pedro;
- Gordo, Gema;
- Dapía, Irene;
- Mena, Rocío;
- Palomares, María;
- Pérez de Nanclares, Guiomar;
- Nevado, Julián;
- García‐Miñaur, Sixto;
- Santos‐Simarro, Fernando;
- Martinez‐Glez, Víctor;
- Vallespín, Elena
Publication type:
Article
Outcomes of evaluation and testing of 660 individuals with hearing loss in a pediatric genetics of hearing loss clinic.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2523, doi. 10.1002/ajmg.a.37855
By:
- Mehta, Devanshi;
- Noon, Sarah E.;
- Schwartz, Emily;
- Wilkens, Alisha;
- Bedoukian, Emma C.;
- Scarano, Irene;
- Crenshaw, E. Bryan;
- Krantz, Ian D.
Publication type:
Article
Braddock-Carey syndrome: A 21q22 contiguous gene syndrome encompassing RUNX1.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2580, doi. 10.1002/ajmg.a.37870
By:
- Braddock, Stephen R.;
- South, Sarah T.;
- Schiffman, Joshua D.;
- Longhurst, Maria;
- Rowe, Leslie R.;
- Carey, John C.
Publication type:
Article
The U.S. FDA focuses on next-generation sequencing.
Published in:
2016
Publication type:
Other
Opitz award-winning paper details genetic cause of CODAS syndrome.
Published in:
2016
Publication type:
Other
Cover Image, Volume 170A, Number 10, October 2016.
Published in:
2016
Publication type:
Other