Works matching IS 15524825 AND DT 2016 AND VI 170A AND IP 1

Results: 47

A Novel Missense Mutation in the Gene EDARADD Associated with an Unusual Phenotype of Hypohidrotic Ectodermal Dysplasia.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 249, doi. 10.1002/ajmg.a.37412
By:
- Wohlfart, Sigrun;
- Söder, Stephan;
- Smahi, Asma;
- Schneider, Holm
Publication type:
Article
First Fetal Case of the 8q24.3 Contiguous Genes Syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 239, doi. 10.1002/ajmg.a.37411
By:
- Wells, Constance;
- Spaggiari, Emmanuel;
- Malan, Valérie;
- Stirnemann, Julien J.;
- Attie‐Bitach, Tania;
- Ville, Yves;
- Vekemans, Michel;
- Bessieres, Bettina;
- Romana, Serge
Publication type:
Article
Screening of CD96 and ASXL1 in 11 Patients with Opitz C or Bohring-Opitz Syndromes.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 24, doi. 10.1002/ajmg.a.37418
By:
- Urreizti, Roser;
- Roca‐Ayats, Neus;
- Trepat, Judith;
- Garcia‐Garcia, Francisco;
- Aleman, Alejandro;
- Orteschi, Daniela;
- Marangi, Giuseppe;
- Neri, Giovanni;
- Opitz, John M.;
- Dopazo, Joaquin;
- Cormand, Bru;
- Vilageliu, Lluïsa;
- Balcells, Susana;
- Grinberg, Daniel
Publication type:
Article
Preaxial Polydactyly Associated with a MSX1 Mutation and Report of Two Novel Mutations.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 254, doi. 10.1002/ajmg.a.37417
By:
- Wattanarat, Onnida;
- Kantaputra, Piranit Nik
Publication type:
Article
No Major Contribution of IGF2 Variants to the Etiology of Sporadic 11p15-Associated Imprinting Disorders.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 283, doi. 10.1002/ajmg.a.37416
By:
- Müller, Anne;
- Soellner, Lukas;
- Binder, Gerhard;
- Begemann, Matthias;
- Eggermann, Thomas
Publication type:
Article
Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 148, doi. 10.1002/ajmg.a.37410
By:
- Nicita, Francesco;
- Garone, Giacomo;
- Spalice, Alberto;
- Savasta, Salvatore;
- Striano, Pasquale;
- Pantaleoni, Chiara;
- Spartà, Maria Valentina;
- Kluger, Gerhard;
- Capovilla, Giuseppe;
- Pruna, Dario;
- Freri, Elena;
- D'Arrigo, Stefano;
- Verrotti, Alberto
Publication type:
Article
Cleft Palate in a Patient with the Nested 22q11.2 LCR C to D Deletion.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 260, doi. 10.1002/ajmg.a.37408
By:
- Williams, Crescenda L.;
- Nelson, Katherine R.;
- Grant, John H.;
- Mikhail, Fady M.;
- Robin, Nathaniel H.
Publication type:
Article
Mosaic Deletion of 20pter Due to Rescue by Somatic Recombination.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 243, doi. 10.1002/ajmg.a.37407
By:
- Martin, Megan M.;
- Vanzo, Rena J.;
- Sdano, Mallory R.;
- Baxter, Adrianne L.;
- South, Sarah T.
Publication type:
Article
All Enamel Is not Created Equal: Supports From a Novel FAM83H Mutation.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 273, doi. 10.1002/ajmg.a.37406
By:
- Kantaputra, Piranit Nik;
- Intachai, Worrachet;
- Auychai, Prim
Publication type:
Article
Gonadal Mosaicism in ARID1B Gene Causes Intellectual Disability and Dysmorphic Features in Three Siblings.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 156, doi. 10.1002/ajmg.a.37405
By:
- Ben‐Salem, Salma;
- Sobreira, Nara;
- Akawi, Nadia A.;
- Al‐Shamsi, Aisha M.;
- John, Anne;
- Pramathan, Thachillath;
- Valle, David;
- Ali, Bassam R.;
- Al‐Gazali, Lihadh
Publication type:
Article
Congenital Heart Defects Common in Rhizomelic Chondrodysplasia Punctata.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 270, doi. 10.1002/ajmg.a.37404
By:
- Duker, Angela L.;
- Eldridge, Grant;
- Braverman, Nancy E.;
- Bober, Michael B.
Publication type:
Article
Isodicentric Y Mosaicism Involving a 46, XX Cell Line: Implications for Management.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 233, doi. 10.1002/ajmg.a.37403
By:
- Hipp, Lauren E.;
- Mohnach, Lauren H.;
- Wei, Sainan;
- Thomas, Inas H.;
- Elhassan, Maha E.;
- Sandberg, David E.;
- Quint, Elisabeth H.;
- Keegan, Catherine E.
Publication type:
Article
Identification of a Novel Nonsense Mutation in the FOXP3 Gene in a Fetus with Hydrops--Expanding the Phenotype of IPEX Syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 226, doi. 10.1002/ajmg.a.37401
By:
- Reichert, Sara L.;
- McKay, Eileen M.;
- Moldenhauer, Julie S.
Publication type:
Article
Temple Syndrome as a Result of Isolated Hypomethylation of the 14q32 Imprinted DLK1/MEG3 Region.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 170, doi. 10.1002/ajmg.a.37400
By:
- Briggs, Tracy A.;
- Lokulo‐Sodipe, Kemi;
- Chandler, Kate E.;
- Mackay, Deborah J. G.;
- Temple, I. Karen
Publication type:
Article
Hearing Impairment and Renal Failure Associated with RMND1 Mutations.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 142, doi. 10.1002/ajmg.a.37399
By:
- Ravn, Kirstine;
- Neland, Mette;
- Wibrand, Flemming;
- Duno, Morten;
- Ostergaard, Elsebet
Publication type:
Article
Vici Syndrome in Siblings Born to Consanguineous Parents.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 220, doi. 10.1002/ajmg.a.37398
By:
- Tasdemir, Sener;
- Sahin, Ibrahim;
- Cayır, Atilla;
- Yuce, Ihsan;
- Ceylaner, Serdar;
- Tatar, Abdulgani
Publication type:
Article
A Novel PIGN Mutation and Prenatal Diagnosis of Inherited Glycosylphosphatidylinositol Deficiency.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 183, doi. 10.1002/ajmg.a.37397
By:
- Nakagawa, Taku;
- Taniguchi‐Ikeda, Mariko;
- Murakami, Yoshiko;
- Nakamura, Shota;
- Motooka, Daisuke;
- Emoto, Tomomi;
- Satake, Wataru;
- Nishiyama, Masahiro;
- Toyoshima, Daisaku;
- Morisada, Naoya;
- Takada, Satoshi;
- Tairaku, Shinya;
- Okamoto, Nobuhiko;
- Morioka, Ichiro;
- Kurahashi, Hiroki;
- Toda, Tatsushi;
- Kinoshita, Taroh;
- Iijima, Kazumoto
Publication type:
Article
Compound Heterozygous Variants in the LARP7 Gene as a Cause of Alazami Syndrome in a Caucasian Female with Significant Failure to Thrive, Short Stature, and Developmental Disability.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 217, doi. 10.1002/ajmg.a.37396
By:
- Ling, Tina T.;
- Sorrentino, Susanna
Publication type:
Article
Editorial Comment on McPherson and Cold.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 60, doi. 10.1002/ajmg.a.37395
By:
- Opitz, John M.
Publication type:
Article
Best Practices in the Evaluation and Treatment of Foramen Magnum Stenosis in Achondroplasia during Infancy.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 42, doi. 10.1002/ajmg.a.37394
By:
- White, Klane K.;
- Bompadre, Viviana;
- Goldberg, Michael J.;
- Bober, Michael B.;
- Campbell, Jeffrey W.;
- Cho, Tae‐Joon;
- Hoover‐Fong, Julie;
- Mackenzie, William;
- Parnell, Shawn E.;
- Raggio, Cathleen;
- Rapoport, David M.;
- Spencer, Samantha A.;
- Savarirayan, Ravi
Publication type:
Article
Two Novel POC1A Mutations in the Primordial Dwarfism, SOFT Syndrome: Clinical Homogeneity but Also Unreported Malformations.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 210, doi. 10.1002/ajmg.a.37393
By:
- Barraza‐García, Jimena;
- Iván Rivera‐Pedroza, Carlos;
- Salamanca, Luis;
- Belinchón, Alberta;
- López‐González, Vanesa;
- Sentchordi‐Montané, Lucía;
- del Pozo, Ángela;
- Santos‐Simarro, Fernando;
- Campos‐Barros, Ángel;
- Lapunzina, Pablo;
- Guillén‐Navarro, Encarna;
- González‐Casado, Isabel;
- García‐Miñaur, Sixto;
- Heath, Karen E.
Publication type:
Article
Fetal Alcohol Spectrum Disorders: Clinical Phenotype Among a High-Risk Group of Children and Adolescents in Korea.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 19, doi. 10.1002/ajmg.a.37392
By:
- Lee, Hyun‐Seung.;
- Jones, Kenneth Lyons.;
- Lee, Hae Kook.;
- Chambers, Christina D.
Publication type:
Article
A Novel Missense Mutation of TNNI2 in a Chinese Family Cause Distal Arthrogryposis Type 1.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 135, doi. 10.1002/ajmg.a.37391
By:
- Wang, Bo;
- Zheng, Zhaojing;
- Wang, Zhigang;
- Zhang, Xiaoqing;
- Yang, Haiou;
- Cai, Haiqing;
- Fu, Qihua
Publication type:
Article
Thrombocytopenia and Cornelia de Lange Syndrome: Still an Enigma?
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 130, doi. 10.1002/ajmg.a.37390
By:
- Cavalleri, Valeria;
- Bettini, Laura R.;
- Barboni, Chiara;
- Cereda, Anna;
- Mariani, Milena;
- Spinelli, Marco;
- Gervasini, Cristina;
- Russo, Silvia;
- Biondi, Andrea;
- Jankovic, Momcilo;
- Selicorni, Angelo
Publication type:
Article
A Novel Mutation in Two Hmong Families Broadens the Range of STRA6-Related Malformations to Include Contractures and Camptodactyly.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 11, doi. 10.1002/ajmg.a.37389
By:
- Marcadier, Julien L.;
- Mears, Alan J.;
- Woods, Elizabeth A.;
- Fisher, Jamie;
- Airheart, Cory;
- Qin, Wen;
- Beaulieu, Chandree L.;
- Dyment, David A.;
- Innes, A. Micheil;
- Curry, Cynthia J.
Publication type:
Article
A Familial Pericentric Inversion of Chromosome 11 Associated with a Microdeletion of 163 kb and Microduplication of 288 kb at 11p13 and 11q22.3 without Aniridia or Eye Anomalies.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 202, doi. 10.1002/ajmg.a.37388
By:
- Balay, Lara;
- Totten, Ellen;
- Okada, Luna;
- Zell, Sidney;
- Ticho, Benjamin;
- Israel, Jeannette;
- Kogan, Jillene
Publication type:
Article
Pathogenenic Variant in the COL2A1 Gene is Associated with Spondyloepiphyseal Dysplasia Type Stanescu.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 266, doi. 10.1002/ajmg.a.37387
By:
- Hammarsjö, Anna;
- Nordgren, Ann;
- Lagerstedt‐Robinson, Kristina;
- Malmgren, Helena;
- Nilsson, Daniel;
- Wedrén, Sara;
- Nordenskjöld, Magnus;
- Nishimura, Gen;
- Grigelioniene, Giedre
Publication type:
Article
Minor Anomalies in Stillborn and Second Trimester Miscarried Fetuses.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 52, doi. 10.1002/ajmg.a.37386
By:
- McPherson, Elizabeth;
- Cold, Christopher
Publication type:
Article
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. 1, p. 32, doi. 10.1002/ajmg.a.37385
By:
- White, Klane K.;
- Parnell, Shawn E.;
- Kifle, Yemiserach;
- Blackledge, Marcella;
- Bompadre, Viviana
Publication type:
Article
Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 116, doi. 10.1002/ajmg.a.37384
By:
- El Chehadeh, Salima;
- Faivre, Laurence;
- Mosca‐Boidron, Anne‐Laure;
- Malan, Valérie;
- Amiel, Jeanne;
- Nizon, Mathilde;
- Touraine, Renaud;
- Prieur, Fabienne;
- Pasquier, Laurent;
- Callier, Patrick;
- Lefebvre, Mathilde;
- Marle, Nathalie;
- Dubourg, Christèle;
- Julia, Sophie;
- Sarret, Catherine;
- Francannet, Christine;
- Laffargue, Fanny;
- Boespflug‐Tanguy, Odile;
- David, Albert;
- Isidor, Bertrand
Publication type:
Article
The Phenotype of the Musculocontractural Type of Ehlers-Danlos Syndrome due to CHST14 Mutations.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 103, doi. 10.1002/ajmg.a.37383
By:
- Janecke, Andreas R.;
- Li, Ben;
- Boehm, Manfred;
- Krabichler, Birgit;
- Rohrbach, Marianne;
- Müller, Thomas;
- Fuchs, Irene;
- Golas, Gretchen;
- Katagiri, Yasuhiro;
- Ziegler, Shira G.;
- Gahl, William A.;
- Wilnai, Yael;
- Zoppi, Nicoletta;
- Geller, Herbert M.;
- Giunta, Cecilia;
- Slavotinek, Anne;
- Steinmann, Beat
Publication type:
Article
Occurrence of DNET and Other Brain Tumors in Noonan Syndrome Warrants Caution with Growth Hormone Therapy.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 195, doi. 10.1002/ajmg.a.37379
By:
- McWilliams, Geoffrey D.;
- SantaCruz, Karen;
- Hart, Blaine;
- Clericuzio, Carol
Publication type:
Article
Tentative Clinical Diagnosis of Lujan-Fryns Syndrome--A Conglomeration of Different Genetic Entities?
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 94, doi. 10.1002/ajmg.a.37378
By:
- Hackmann, Karl;
- Rump, Andreas;
- Haas, Stefan A.;
- Lemke, Johannes R.;
- Fryns, Jean‐Pierre;
- Tzschach, Andreas;
- Wieczorek, Dagmar;
- Albrecht, Beate;
- Kuechler, Alma;
- Ripperger, Tim;
- Kobelt, Albrecht;
- Oexle, Konrad;
- Tinschert, Sigrid;
- Schrock, Evelin;
- Kalscheuer, Vera M.;
- Di Donato, Nataliya
Publication type:
Article
Quality of Life in Osteogenesis Imperfecta: A Mixed-Methods Systematic Review.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 62, doi. 10.1002/ajmg.a.37377
By:
- Dahan‐Oliel, N.;
- Oliel, S.;
- Tsimicalis, A.;
- Montpetit, K.;
- Rauch, F.;
- Dogba, M. J.
Publication type:
Article
Somatic BRAF c.1799T>A p.V600E Mosaicism Syndrome Characterized by a Linear Syringocystadenoma Papilliferum, Anaplastic Astrocytoma, and Ocular Abnormalities.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 189, doi. 10.1002/ajmg.a.37376
By:
- Watanabe, Yuko;
- Shido, Kosuke;
- Niihori, Tetsuya;
- Niizuma, Hidetaka;
- Katata, Yu;
- Iizuka, Chie;
- Oba, Daiju;
- Moriya, Kunihiko;
- Saito‐Nanjo, Yuka;
- Onuma, Masaei;
- Rikiishi, Takeshi;
- Sasahara, Yoji;
- Watanabe, Mika;
- Aiba, Setsuya;
- Saito, Ryuta;
- Sonoda, Yukihiko;
- Tominaga, Teiji;
- Aoki, Yoko;
- Kure, Shigeo
Publication type:
Article
A PIGN Mutation Responsible for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 (MCAHS1) in an Israeli-Arab Family.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 176, doi. 10.1002/ajmg.a.37375
By:
- Khayat, Morad;
- Tilghman, Joseph Mark;
- Chervinsky, Ilana;
- Zalman, Lucia;
- Chakravarti, Aravinda;
- Shalev, Stavit A.
Publication type:
Article
Confirmation of Autosomal Recessive Inheritance of COL2A1 Mutations in Spondyloepiphyseal Dysplasia Congenita: Lessons for Genetic Counseling.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 263, doi. 10.1002/ajmg.a.37374
By:
- Barat‐Houari, Mouna;
- Baujat, Geneviève;
- Tran Mau Them, Frédéric;
- Fabre, Aurélie;
- Geneviève, David;
- Touitou, Isabelle
Publication type:
Article
Xq21.31-q21.32 Duplication Underlies Intellectual Disability in a Large Family with Five Affected Males.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 87, doi. 10.1002/ajmg.a.37372
By:
- Basit, Sulman;
- Malibari, Omhani I.;
- Al‐Balawi, Alia M.;
- Afzal, Sibtain;
- Eldardear, Amr Elsayed Mohamed;
- Ramzan, Khushnooda
Publication type:
Article
Genotype-Phenotype Correlation of Congenital Anomalies in Multiple Congenital Anomalies Hypotonia Seizures Syndrome (MCAHS1)/PIGN-Related Epilepsy.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 77, doi. 10.1002/ajmg.a.37369
By:
- Fleming, Leah;
- Lemmon, Monica;
- Beck, Natalie;
- Johnson, Maria;
- Mu, Weiyi;
- Murdock, David;
- Bodurtha, Joann;
- Hoover‐Fong, Julie;
- Cohn, Ronald;
- Bosemani, Thangamadhan;
- Barañano, Kristin;
- Hamosh, Ada
Publication type:
Article
New Patients with Temple Syndrome Caused by 14q32 Deletion: Genotype-Phenotype Correlations and Risk of Thyroid Cancer.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 162, doi. 10.1002/ajmg.a.37346
By:
- Severi, Giulia;
- Bernardini, Laura;
- Briuglia, Silvana;
- Bigoni, Stefania;
- Buldrini, Barbara;
- Magini, Pamela;
- Dentici, Maria L.;
- Cordelli, Duccio M.;
- Arrigo, Teresa;
- Franzoni, Emilio;
- Fini, Sergio;
- Italyankina, Eleonora;
- Loddo, Italia;
- Novelli, Antonio;
- Graziano, Claudio
Publication type:
Article
ERRATUM.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 285, doi. 10.1002/ajmg.a.37244
By:
- Donkervoort, S.;
- Bönnemann, C. G.;
- Loeys, B.;
- Jungbluth, H.;
- Voermans, N. C.
Publication type:
Article
Long-Term Survival in Microcephalic Osteodysplastic Primordial Dwarfism Type I: Evaluation of an 18-Year-Old Male with g.55G>A Homozygous Mutation in RNU4ATAC.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 277, doi. 10.1002/ajmg.a.37409
By:
- Abdel‐Salam, Ghada M.H.;
- Emam, Bayoumi A.;
- Khalil, Yasmin M.;
- Abdel‐Hamid, Mohamed S.
Publication type:
Article
POC1A MUTATIONS CONFIRMED AS CAUSE OF SOFT SYNDROME.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 10, doi. 10.1002/ajmg.a.37508
Publication type:
Article
PHENOTYPE FOR FETAL ALCOHOL SPECTRUM DISORDER MAY BE PRESENT IN KOREAN YOUTH.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 10, doi. 10.1002/ajmg.a.37508
Publication type:
Article
CONGENITAL CONTRACTURES AND CAMPTODACTYLY ADDED TO PDAC PHENOTYPE.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 10, doi. 10.1002/ajmg.a.37508
Publication type:
Article
GENETIC COUNSELOR LICENSURE PROPONENTS CALL FOR MORE STATES TO ADOPT LICENSING LAWS.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 8, doi. 10.1002/ajmg.a.37507
Publication type:
Article
DUAL TESTING STRATEGY IN AUTISM INCREASES DIAGNOSTIC YIELD.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 7, doi. 10.1002/ajmg.a.37302
By:
- Levenson, Deborah
Publication type:
Article