Works matching IS 15524825 AND DT 2017 AND VI 173 AND IP 1

Results: 45

Frederik Ruysch (1638-1731): Historical perspective and contemporary analysis of his teratological legacy.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 16, doi. 10.1002/ajmg.a.37663

By:

Boer, Lucas;
Radziun, Anna B.;
Oostra, Roelof‐Jan

Publication type:

Article

Homozygous LIPE mutation in siblings with multiple symmetric lipomatosis, partial lipodystrophy, and myopathy.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 190, doi. 10.1002/ajmg.a.37880

By:

Zolotov, Sagit;
Xing, Chao;
Mahamid, Riad;
Shalata, Adel;
Sheikh‐Ahmad, Mohammed;
Garg, Abhimanyu

Publication type:

Article

Table of Contents & Publication Schedule, Volume 173A, Number 1, January 2017.

Published in:: 2017
Publication type:: Other

In this issue.

Published in:: 2017
Publication type:: Other

New SMARCA2 mutation in a patient with Nicolaides-Baraitser syndrome and myoclonic astatic epilepsy.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 195, doi. 10.1002/ajmg.a.37935

By:

Tang, S.;
Hughes, E.;
Lascelles, K.;
Simpson, M. A.;
Pal, D. K.

Publication type:

Article

Growth charts for individuals with rhizomelic chondrodysplasia punctata.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 108, doi. 10.1002/ajmg.a.37961

By:

Duker, Angela L.;
Niiler, Tim;
Eldridge, Grant;
Brereton, Nga H.;
Braverman, Nancy E.;
Bober, Michael B.

Publication type:

Article

A de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1-related spinocerebellar ataxia's.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 207, doi. 10.1002/ajmg.a.37962

By:

van Dijk, Tessa;
Barth, Peter;
Reneman, Liesbeth;
Appelhof, Bart;
Baas, Frank;
Poll‐The, Bwee Tien

Publication type:

Article

Nance-Horan syndrome-The oral perspective on a rare disease.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 88, doi. 10.1002/ajmg.a.37963

By:

Gjørup, Hans;
Haubek, Dorte;
Jacobsen, Pernille;
Ostergaard, John R.

Publication type:

Article

A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 72, doi. 10.1002/ajmg.a.37964

By:

Jurkiewicz, Dorota;
Kugaudo, Monika;
Skórka, Agata;
Śmigiel, Robert;
Smyk, Marta;
Ciara, Elżbieta;
Chrzanowska, Krystyna;
Krajewska‐Walasek, Małgorzata

Publication type:

Article

Further defining the critical genes for the 4q21 microdeletion disorder.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 120, doi. 10.1002/ajmg.a.37965

By:

Hu, Xuyun;
Chen, Xiaoli;
Wu, Bingbing;
Soler, Irene Mademont;
Chen, Shaoke;
Shen, Yiping

Publication type:

Article

Phenotype of 7q11.23 duplication: A family clinical series.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 114, doi. 10.1002/ajmg.a.37966

By:

Earhart, Beth A.;
Williams, Marian E.;
Zamora, Irina;
Randolph, Linda Marie;
Votava‐Smith, Jodie K.;
Marcy, Stephanie N.

Publication type:

Article

Making extra teeth: Lessons from a TRPS1 mutation.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 99, doi. 10.1002/ajmg.a.37967

By:

Kunotai, Worawan;
Ananpornruedee, Panjit;
Lubinsky, Mark;
Pruksametanan, Apitchaya;
Kantaputra, Piranit Nik

Publication type:

Article

Health-related quality of life in children with Robin sequence.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 54, doi. 10.1002/ajmg.a.37968

By:

Basart, Hanneke;
van Oers, Hedy A.;
Paes, Emma C.;
Breugem, Corstiaan C.;
Don Griot, J. Peter W.;
van der Horst, Chantal M. A. M.;
Haverman, Lotte;
Hennekam, Raoul C.

Publication type:

Article

Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 62, doi. 10.1002/ajmg.a.37969

By:

Gauthier‐Vasserot, Alexandra;
Thauvin‐Robinet, Christel;
Bruel, Ange‐Line;
Duffourd, Yannis;
St‐Onge, Judith;
Jouan, Thibaud;
Rivière, Jean‐Baptiste;
Heron, Delphine;
Donadieu, Jean;
Bellanné‐Chantelot, Christine;
Briandet, Claire;
Huet, Frédéric;
Kuentz, Paul;
Lehalle, Daphné;
Duplomb‐Jego, Laurence;
Gautier, Elodie;
Maystadt, Isabelle;
Pinson, Lucile;
Amram, Daniel;
El Chehadeh, Salima

Publication type:

Article

A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase ( YARS) gene.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 126, doi. 10.1002/ajmg.a.37973

By:

Nowaczyk, Małgorzata J. M.;
Huang, Lijia;
Tarnopolsky, Mark;
Schwartzentruber, Jeremy;
Majewski, Jacek;
Bulman, Dennis E.;
Hartley, Taila;
Boycott, Kym M.

Publication type:

Article

Marfan syndrome: Report of a complex phenotype due to a 15q21.1 contiguos gene deletion encompassing FBN1, and literature review.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 200, doi. 10.1002/ajmg.a.37975

By:

Dordoni, Chiara;
Ciaccio, Claudia;
Santoro, Graziano;
Venturini, Marina;
Cavallari, Ugo;
Ritelli, Marco;
Colombi, Marina

Publication type:

Article

A boy with partial dup(18q)/del(18p) due to a maternal pericentric inversion: Genotype-phenotype correlation and risk of recombinant chromosomes based on systematic review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 143, doi. 10.1002/ajmg.a.37976

By:

Lustosa‐Mendes, Elaine;
dos Santos, Ana Paula;
Viguetti‐Campos, Nilma Lúcia;
Vieira, Társis Paiva;
Gil‐da‐Silva‐Lopes, Vera Lúcia

Publication type:

Article

Neuroligin 2 nonsense variant associated with anxiety, autism, intellectual disability, hyperphagia, and obesity.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 213, doi. 10.1002/ajmg.a.37977

By:

Parente, Daniel J.;
Garriga, Caryn;
Baskin, Berivan;
Douglas, Ganka;
Cho, Megan T.;
Araujo, Gabriel C.;
Shinawi, Marwan

Publication type:

Article

Identification of 11p14.1-p15.3 deletion probably associated with short stature, relative macrocephaly, and delayed closure of the fontanelles.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 217, doi. 10.1002/ajmg.a.37978

By:

Dateki, Sumito;
Watanabe, Satoshi;
Kinoshita, Fumiko;
Yoshiura, Koh‐ichiro;
Moriuchi, Hiroyuki

Publication type:

Article

Congenital diaphragmatic hernia in 22q11.2 deletion syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 135, doi. 10.1002/ajmg.a.37980

By:

Unolt, Marta;
DiCairano, Lauren;
Schlechtweg, Kathryn;
Barry, Jessica;
Howell, Lori;
Kasperski, Stefanie;
Nance, Michael;
Adzick, N. Scott;
Zackai, Elaine H.;
McDonald‐McGinn, Donna M.

Publication type:

Article

Familial deletion of the HOXA gene cluster associated with Hand-Foot-Genital syndrome and phenotypic variability.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 221, doi. 10.1002/ajmg.a.37981

By:

Tas, Emir;
Sebastian, Jessica;
Madan‐Khetarpal, Suneeta;
Sweet, Philip;
Yatsenko, Alexander N.;
Pollock, Nijole;
Rajkovic, Aleksandar;
Schneck, Francis X.;
Yatsenko, Svetlana A.;
Witchel, Selma Feldman

Publication type:

Article

Embryonic hypocellularity, blastogenetic malformations, and fetal growth restriction.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 151, doi. 10.1002/ajmg.a.37985

By:

Lubinsky, Mark

Publication type:

Article

SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 225, doi. 10.1002/ajmg.a.37986

By:

Courage, Carolina;
Jackson, Christopher B.;
Hahn, Dagmar;
Euro, Liliya;
Nuoffer, Jean‐Marc;
Gallati, Sabina;
Schaller, André

Publication type:

Article

Using a qualitative approach to conceptualize concerns of patients with neurofibromatosis type 1 associated plexiform neurofibromas (pNF) across the lifespan.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 79, doi. 10.1002/ajmg.a.37987

By:

Lai, Jin‐Shei;
Jensen, Sally E.;
Patel, Zabin S.;
Listernick, Robert;
Charrow, Joel

Publication type:

Article

First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 231, doi. 10.1002/ajmg.a.37989

By:

Acquaviva, Fabio;
Sana, Maria Elena;
Della Monica, Matteo;
Pinelli, Michele;
Postorivo, Diana;
Fontana, Paolo;
Falco, Maria Teresa;
Nardone, Anna Maria;
Lonardo, Fortunato;
Iascone, Maria;
Scarano, Gioacchino

Publication type:

Article

Middle ear abnormalities in Van Maldergem syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 239, doi. 10.1002/ajmg.a.37990

By:

Verheij, Emmy;
Thomeer, Henricus G. X. M.;
Pameijer, Frank A.;
Topsakal, Vedat

Publication type:

Article

Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 157, doi. 10.1002/ajmg.a.37992

By:

Ohishi, Akira;
Nishimura, Gen;
Kato, Fumiko;
Ono, Hiroyuki;
Maruwaka, Kaori;
Ago, Mako;
Suzumura, Hiroshi;
Hirose, Etsuko;
Uchida, Yuki;
Fukami, Maki;
Ogata, Tsutomu

Publication type:

Article

Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 245, doi. 10.1002/ajmg.a.37993

By:

Byers, Heather M.;
Adam, Margaret P.;
LaCroix, Amy;
Leary, Sarah E. S.;
Cole, Bonnie;
Dobyns, William B.;
Mefford, Heather C.

Publication type:

Article

Sudden infant death 'syndrome'-Insights and future directions from a Utah population database analysis.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 177, doi. 10.1002/ajmg.a.37994

By:

Christensen, Erik D.;
Berger, Justin;
Alashari, Mouied M.;
Coon, Hilary;
Robison, Cynthia;
Ho, Hsu‐Tso;
Adams, David R.;
Gahl, Willian A.;
Smith, Ken R.;
Opitz, John M.;
Johnson, Dennis R.

Publication type:

Article

Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 250, doi. 10.1002/ajmg.a.37995

By:

Kosaki, Rika;
Terashima, Hiroshi;
Kubota, Masaya;
Kosaki, Kenjiro

Publication type:

Article

Spondyloepiphyseal dysplasia Omani type: CHST3 mutation spectrum and phenotypes in three Indian families.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 163, doi. 10.1002/ajmg.a.37996

By:

Srivastava, Priyanka;
Pandey, Himani;
Agarwal, Divya;
Mandal, Kausik;
Phadke, Shubha R.

Publication type:

Article

Familial Gordon syndrome associated with a PIEZO2 mutation.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 254, doi. 10.1002/ajmg.a.37997

By:

Alisch, Franz;
Weichert, Alexander;
Kalache, Karim;
Paradiso, Viola;
Longardt, Ann Carolin;
Dame, Christof;
Hoffmann, Katrin;
Horn, Denise

Publication type:

Article

Phenotypic variability in patients with Fanconi anemia and biallelic FANCF mutations.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 260, doi. 10.1002/ajmg.a.37998

By:

Tryon, Rebecca;
Zierhut, Heather;
MacMillan, Margaret L.;
Wagner, John E.

Publication type:

Article

Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 169, doi. 10.1002/ajmg.a.38004

By:

Ritelli, Marco;
Morlino, Silvia;
Giacopuzzi, Edoardo;
Carini, Giulia;
Cinquina, Valeria;
Chiarelli, Nicola;
Majore, Silvia;
Colombi, Marina;
Castori, Marco

Publication type:

Article

A Marfan syndrome-like phenotype caused by a neocentromeric supernumerary ring chromosome 15.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 268, doi. 10.1002/ajmg.a.38000

By:

Quinonez, Shane C.;
Gelehrter, Thomas D.;
Uhlmann, Wendy R.

Publication type:

Article

Bicoronal and metopic craniosynostosis in association with a de novo unbalanced t(2;7) chromosomal translocation.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 274, doi. 10.1002/ajmg.a.38001

By:

O'Byrne, James J.;
Ryan, Helen;
Murray, Dylan J.;
Regan, Regina;
Betts, David R.;
Murphy, Nuala;
Casey, Jillian P.;
Lynch, Sally A.

Publication type:

Article

A 6.5 mb deletion at 3q24q25.2 narrows Wisconsin syndrome critical region to a 750 kb interval: A potential role for MBNLI.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 280, doi. 10.1002/ajmg.a.38002

By:

Bertini, Veronica;
Orsini, Alessandro;
Mazza, Roberta;
Mandava, Vineela;
Saggese, Giuseppe;
Azzara’, Alessia;
Bonuccelli, Alice;
Valetto, Angelo

Publication type:

Article

Simpson-Golabi-Behmel syndrome in a female: A case report and an unsolved issue.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 285, doi. 10.1002/ajmg.a.38003

By:

Vaisfeld, Alessandro;
Pomponi, Maria Grazia;
Pietrobono, Roberta;
Tabolacci, Elisabetta;
Neri, Giovanni

Publication type:

Article

Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 264, doi. 10.1002/ajmg.a.37999

By:

Moosa, Shahida;
Böhrer‐Rabel, Helena;
Altmüller, Janine;
Beleggia, Filippo;
Nürnberg, Peter;
Li, Yun;
Yigit, Gökhan;
Wollnik, Bernd

Publication type:

Article

KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 183, doi. 10.1002/ajmg.a.38010

By:

Badalato, Lauren;
Farhan, Sali M. K.;
Dilliott, Allison A.;
Bulman, Dennis E.;
Hegele, Robert A.;
Goobie, Sharan L.

Publication type:

Article

Down syndrome in diverse populations.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 42, doi. 10.1002/ajmg.a.38043

By:

Kruszka, Paul;
Porras, Antonio R.;
Sobering, Andrew K.;
Ikolo, Felicia A.;
La Qua, Samantha;
Shotelersuk, Vorasuk;
Chung, Brian H. Y.;
Mok, Gary T. K.;
Uwineza, Annette;
Mutesa, Leon;
Moresco, Angélica;
Obregon, María Gabriela;
Sokunbi, Ogochukwu Jidechukwu;
Kalu, Nnenna;
Joseph, Daniel Akinsanya;
Ikebudu, Desmond;
Ugwu, Christopher Emeka;
Okoromah, Christy A. N.;
Addissie, Yonit A.;
Pardo, Katherine L.

Publication type:

Article

Standing on the shoulders of giants.

Published in:

2017

By:

Muenke, Maximilian

Publication type:

Editorial

Cover Image, Volume 173A, Number 1, January 2017.

Published in:

2017

By:

O'Byrne, James J.;
Ryan, Helen;
Murray, Dylan J.;
Regan, Regina;
Betts, David R.;
Murphy, Nuala;
Casey, Jillian P.;
Lynch, Sally A.

Publication type:

Other

Advocates call for long-term extension of the FDA's rare pediatric disease priority review program.

Published in:: 2017
Publication type:: Other

Geneticists, health professionals suggest recasting requests to test children for adult-onset diseases.

Published in:: 2017
Publication type:: Other