Works matching IS 15524825 AND DT 2017 AND VI 173 AND IP 5

Results: 58

Short stature, unusual face, delta phalanx, and abnormal vertebrae and ribs in a girl born to half-siblings.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1152, doi. 10.1002/ajmg.a.38172

By:

Pogue, Robert;
Marques, Felipe A.;
Kopacek, Cristiane;
Rosa, Rosana C. M.;
Dorfman, Luiza E.;
Mazzeu, Juliana F.;
Flores, José A. M.;
Zen, Paulo R. G.;
Rosa, Rafael F. M.

Publication type:

Article

Age-related differences in prevalence of autism spectrum disorder symptoms in children and adolescents with Costello syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1294, doi. 10.1002/ajmg.a.38174

By:

Schwartz, David D.;
Katzenstein, Jennifer M.;
Highley, Eric J.;
Stabley, Deborah L.;
Sol‐Church, Katia;
Gripp, Karen W.;
Axelrad, Marni E.

Publication type:

Article

Growth characteristics and endocrine abnormalities in 22q11.2 deletion syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1301, doi. 10.1002/ajmg.a.38175

By:

Levy‐Shraga, Yael;
Gothelf, Doron;
Goichberg, Zohar;
Katz, Uriel;
Somech, Raz;
Pinhas‐Hamiel, Orit;
Modan‐Moses, Dalit

Publication type:

Article

A de novo deletion in a boy with cerebral palsy suggests a refined critical region for the 4q21.22 microdeletion syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1287, doi. 10.1002/ajmg.a.38176

By:

Zarrei, Mehdi;
Merico, Daniele;
Kellam, Barbara;
Engchuan, Worrawat;
Scriver, Tara;
Jokhan, Rikash;
Wilson, Michael D.;
Parr, Jeremy;
Lemire, Edmond G.;
Stavropoulos, Dimitri J.;
Scherer, Stephen W.

Publication type:

Article

Neurofibromatosis type 2: Multiple intra-dermal tumors in a toddler.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1447, doi. 10.1002/ajmg.a.38177

By:

Rustad, Cecilie F.;
Dahl, Hilde M.;
Bowers, Naomi L.;
Sitek, Jan C.;
Heiberg, Arvid;
Huson, Susan;
Prescott, Trine;
Evans, D. Gareth R.

Publication type:

Article

Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1309, doi. 10.1002/ajmg.a.38178

By:

Bertola, Débora;
Buscarilli, Michelle;
Stabley, Deborah L.;
Baker, Laura;
Doyle, Daniel;
Bartholomew, Dennis W.;
Sol‐Church, Katia;
Gripp, Karen W.

Publication type:

Article

Oral-facial-digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1383, doi. 10.1002/ajmg.a.38179

By:

Bouman, Arjan;
Alders, Mariëlle;
Oostra, Roelof Jan;
van Leeuwen, Elisabeth;
Thuijs, Nikki;
van der Kevie‐Kersemaekers, Anne‐Marie;
van Maarle, Merel

Publication type:

Article

Oculo-facio-cardio-dental syndrome with craniosynostosis, temporal hypertrichosis, and deafness.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1374, doi. 10.1002/ajmg.a.38128

By:

O'Byrne, James J.;
Laffan, Eoghan;
Murray, Dylan J.;
Reardon, William

Publication type:

Article

Mystery solved: Our son's autism and extreme self-injury is genetic and treatable.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1190, doi. 10.1002/ajmg.a.38198

By:

Bartel, Tanja

Publication type:

Article

Cover Image, Volume 173A, Number 5, May 2017.

Published in:

2017

By:

Takenouchi, Toshiki;
Kuchikata, Tomu;
Yoshihashi, Hiroshi;
Fujiwara, Mineko;
Uehara, Tomoko;
Miyama, Sahoko;
Yamada, Shiro;
Kosaki, Kenjiro

Publication type:

Other

Foremost Prenatal Physician, Scientist Tapped to Lead National Child Health Agency.

Published in:: 2017
Publication type:: Other

Adding value to genetic testing through utilization management: Commercial laboratory's experience.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1433, doi. 10.1002/ajmg.a.38147

By:

Londre, Gina K.;
Zaleski, Christina A.;
Conta, Jessie H.

Publication type:

Article

The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1440, doi. 10.1002/ajmg.a.38143

By:

Zweier, Markus;
Peippo, Maarit M.;
Pöyhönen, Minna;
Kääriäinen, Helena;
Begemann, Anaïs;
Joset, Pascal;
Oneda, Beatrice;
Rauch, Anita

Publication type:

Article

Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1219, doi. 10.1002/ajmg.a.38144

By:

Louie, Raymond J.;
Tan, Queenie K.‐G.;
Gilner, Jennifer B.;
Rogers, R. Curtis;
Younge, Noelle;
Wechsler, Stephanie B.;
McDonald, Marie T.;
Gordon, Barbara;
Saski, Christopher A.;
Jones, Julie R.;
Chapman, Shelley J.;
Stevenson, Roger E.;
Sleasman, John W.;
Friez, Michael J.

Publication type:

Article

A de novo nonsense mutation in ZBTB18 plus a de novo 15q13.3 microdeletion in a 6-year-old female.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1251, doi. 10.1002/ajmg.a.38145

By:

Ehmke, Nadja;
Karge, Sylvio;
Buchmann, Johannes;
Korinth, Dirk;
Horn, Denise;
Reis, Olaf;
Häßler, Frank

Publication type:

Article

Nonsense pathogenic variants in exon 1 of PHOX2B lead to translational reinitiation in congenital central hypoventilation syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1200, doi. 10.1002/ajmg.a.38162

By:

Cain, Jacob T.;
Kim, Dae I.;
Quast, Megan;
Shivega, Winnie G.;
Patrick, Ryan J.;
Moser, Chuanpit;
Reuter, Suzanne;
Perez, Myrza;
Myers, Angela;
Weimer, Jill M.;
Roux, Kyle J.;
Landsverk, Megan

Publication type:

Article

De Novo Variants Associated With Developmental Disability.

Published in:: 2017
Publication type:: Other

Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1396, doi. 10.1002/ajmg.a.38214

By:

Pettersson, Maria;
Bergendal, Birgitta;
Norderyd, Johanna;
Nilsson, Daniel;
Anderlid, Britt‐Marie;
Nordgren, Ann;
Lindstrand, Anna

Publication type:

Article

Oxytocin treatment in children with Prader-Willi syndrome: A double-blind, placebo-controlled, crossover study.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1243, doi. 10.1002/ajmg.a.38160

By:

Miller, Jennifer L.;
Tamura, Roy;
Butler, Merlin G.;
Kimonis, Virginia;
Sulsona, Carlos;
Gold, June‐Anne;
Driscoll, Daniel J.

Publication type:

Article

Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1172, doi. 10.1002/ajmg.a.38161

By:

Kline, Antonie D.;
Krantz, Ian D.;
Deardorff, Matthew A.;
Shirahige, Katsuhiko;
Dorsett, Dale;
Gerton, Jennifer L.;
Wu, Meng;
Mehta, Devanshi;
Mills, Jason A.;
Carrico, Cheri S.;
Noon, Sarah;
Herrera, Pamela S.;
Horsfield, Julia A.;
Bettale, Chiara;
Morgan, Jeremy;
Huisman, Sylvia A.;
Moss, Jo;
McCleery, Joseph;
Grados, Marco;
Hansen, Blake D.

Publication type:

Article

Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1348, doi. 10.1002/ajmg.a.38146

By:

Falco, Mariateresa;
Franzè, Annamaria;
Iossa, Sandra;
De Falco, Luigia;
Gambale, Antonella;
Marciano, Elio;
Iolascon, Achille

Publication type:

Article

Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1364, doi. 10.1002/ajmg.a.38163

By:

Walczak‐Sztulpa, Joanna;
Wawrocka, Anna;
Sobierajewicz, Agata;
Kuszel, Lukasz;
Zawadzki, Jan;
Grenda, Ryszard;
Swiader‐Lesniak, Anna;
Kocyla‐Karczmarewicz, Beata;
Wnuk, Anna;
Latos‐Bielenska, Anna;
Chrzanowska, Krystyna H.

Publication type:

Article

DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1369, doi. 10.1002/ajmg.a.38164

By:

Dikow, Nicola;
Granzow, Martin;
Graul‐Neumann, Luitgard M.;
Karch, Stephanie;
Hinderhofer, Katrin;
Paramasivam, Nagarajan;
Behl, Laura‐Jane;
Kaufmann, Lilian;
Fischer, Christine;
Evers, Christina;
Schlesner, Matthias;
Eils, Roland;
Borck, Guntram;
Zweier, Christiane;
Bartram, Claus R.;
Carey, John C.;
Moog, Ute

Publication type:

Article

Neonatal characteristics and perinatal complications in neonates with Down syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1279, doi. 10.1002/ajmg.a.38165

By:

Ergaz‐Shaltiel, Zivanit;
Engel, Offra;
Erlichman, Ira;
Naveh, Yaron;
Schimmel, Michael S.;
Tenenbaum, Ariel

Publication type:

Article

DEVELOPMENTAL BIOLOGY, 11TH EDITION 2016.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1430, doi. 10.1002/ajmg.a.38166

By:

Gilbert, S. F.;
Barresi, M. J. F.

Publication type:

Article

Diagnostic use of computational retrotransposon detection: Successful definition of pathogenetic mechanism in a ciliopathy phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1353, doi. 10.1002/ajmg.a.38167

By:

Takenouchi, Toshiki;
Kuchikata, Tomu;
Yoshihashi, Hiroshi;
Fujiwara, Mineko;
Uehara, Tomoko;
Miyama, Sahoko;
Yamada, Shiro;
Kosaki, Kenjiro

Publication type:

Article

MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1264, doi. 10.1002/ajmg.a.38168

By:

Yamamoto, Toshiyuki;
Shimojima, Keiko;
Ondo, Yumiko;
Shimakawa, Shuichi;
Okamoto, Nobuhiko

Publication type:

Article

Bilateral second toe superposition associated with neurofibromatosis type 1 and NF1 whole gene deletion.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1431, doi. 10.1002/ajmg.a.38182

By:

Rodrigues, Luiz;
Souza, Juliana;
Malta, Frederico;
Rodrigues, Juliana;
Couto, Patrícia;
Rodrigues, Luíza;
Rezende, Nilton;
Riccardi, Vincent

Publication type:

Article

Retinal dystrophy in two boys with Costello syndrome due to the HRAS p.Gly13Cys mutation.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1342, doi. 10.1002/ajmg.a.38110

By:

Pierpont, Mary Ella;
Richards, Mary;
Engel, W. Keith;
Mendelsohn, Nancy J.;
Summers, C. Gail

Publication type:

Article

Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1390, doi. 10.1002/ajmg.a.38184

By:

Ji, Jianling;
Quindipan, Catherine;
Parham, David;
Shen, Lishuang;
Ruble, David;
Bootwalla, Moiz;
Maglinte, Dennis T.;
Gai, Xiaowu;
Saitta, Sulagna C.;
Biegel, Jaclyn A.;
Mascarenhas, Leo

Publication type:

Article

Intragenic deletion of the WDR45 gene in a male with encephalopathy, severe psychomotor disability, and epilepsy.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1444, doi. 10.1002/ajmg.a.38180

By:

Redon, Sylvia;
Benech, Caroline;
Schutz, Sacha;
Despres, Aurore;
Gueguen, Paul;
Le Berre, Pauline;
Le Marechal, Cédric;
Peudenier, Sylviane;
Meriot, Philippe;
Parent, Philippe;
Ferec, Claude

Publication type:

Article

Alu-mediated deletion of PIGL in a Patient with CHIME syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1378, doi. 10.1002/ajmg.a.38181

By:

Knight Johnson, Amy;
Schaefer, Gerald Bradley;
Lee, Jennifer;
Hu, Ying;
del Gaudio, Daniela

Publication type:

Article

Long-term functional and mobility outcomes for individuals with arthrogryposis multiplex congenita.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1270, doi. 10.1002/ajmg.a.38169

By:

Nouraei, Hirmand;
Sawatzky, Bonita;
MacGillivray, Megan;
Hall, Judith

Publication type:

Article

Functional monosomy of 6q27-qter and functional disomy of Xpter-p22.11 due to X;6 translocation with an atypical X-inactivation pattern.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1334, doi. 10.1002/ajmg.a.38183

By:

Podolska, Anna;
Kobelt, Albrecht;
Fuchs, Sigrid;
Hackmann, Karl;
Rump, Andreas;
Schröck, Evelin;
Kutsche, Kerstin;
Di Donato, Nataliya

Publication type:

Article

Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1328, doi. 10.1002/ajmg.a.38113

By:

Boczek, Nicole J.;
Kruisselbrink, Teresa;
Cousin, Margot A.;
Blackburn, Patrick R.;
Klee, Eric W.;
Gavrilova, Ralitza H.;
Lanpher, Brendan C.

Publication type:

Article

Corrigendum to 'Having a son or daughter with Down syndrome: Perspectives from mothers and fathers. Am J Med Genet Part A 155:2335-2347.'.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1453, doi. 10.1002/ajmg.a.38185

By:

Skotko, Brian G.;
Levine, Susan P.;
Goldstein, Richard

Publication type:

Article

In gratitude for an undeserved gift*.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1147, doi. 10.1002/ajmg.a.38186

By:

Opitz, John M.

Publication type:

Article

Variations on the theme of how to write a scientific article.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1149, doi. 10.1002/ajmg.a.38187

By:

Neri, Giovanni

Publication type:

Article

Molecular analysis of a novel intragenic deletion in GPC3 in three cousins with Simpson-Golabi-Behmel syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1400, doi. 10.1002/ajmg.a.38188

By:

Schmidt, Julia;
Hollstein, Ronja;
Kaiser, Frank J.;
Gillessen‐Kaesbach, Gabriele

Publication type:

Article

Advanced cardiovascular imaging in Williams syndrome: Abnormalities, usefulness, and strategy for use.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1194, doi. 10.1002/ajmg.a.38138

By:

Hills, Jordan A.;
Zarate, Yuri A.;
Danylchuk, Noelle R.;
Lepard, Tiffany;
Chen, Jean Chi‐Jen;
Collins, Ronnie Thomas

Publication type:

Article

John M Opitz, Founder of AJMG, awarded the German Merit of Honor.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1145, doi. 10.1002/ajmg.a.38202

By:

Spranger, Jürgen

Publication type:

Article

De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1319, doi. 10.1002/ajmg.a.38207

By:

Mullegama, Sureni V.;
Klein, Steven D.;
Mulatinho, Milene V.;
Senaratne, Tharanga Niroshini;
Singh, Kathryn;
Nguyen, Dzung C.;
Gallant, Natalie M.;
Strom, Samuel P.;
Ghahremani, Shahnaz;
Rao, Nagesh P.;
Martinez‐Agosto, Julian A.

Publication type:

Article

Table of Contents, Volume 173A, Number 5, May 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

A height-for-age growth reference for children with achondroplasia: Expanded applications and comparison with original reference data.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1226, doi. 10.1002/ajmg.a.38150

By:

Hoover‐Fong, Julie;
McGready, John;
Schulze, Kerry;
Alade, Adekemi Yewande;
Scott, Charles I

Publication type:

Article

Maxillofacial features and systemic malformations in expanded spectrum Hemifacial Microsomia.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1208, doi. 10.1002/ajmg.a.38151

By:

Cohen, Noah;
Cohen, Erica;
Gaiero, Alberto;
Zecca, Silvia;
Fichera, Graziella;
Baldi, Federica;
Giordanetto, Joseph Felix;
Mercier, Jacques Marie;
Cohen, Amnon

Publication type:

Article

The association of maternal lymphatic markers and critical congenital heart defects in the fetus-A population based case-control study.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1231, doi. 10.1002/ajmg.a.38152

By:

Steurer, Martina A.;
Norton, Mary E.;
Baer, Rebecca J.;
Shaw, Gary M.;
Keating, Sheila;
Moon‐Grady, Anita J.;
Chambers, Christina D.;
Jelliffe‐Pawlowski, Laura L.

Publication type:

Article

A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1257, doi. 10.1002/ajmg.a.38153

By:

Gariballa, Nesrin;
Ben‐Mahmoud, Afif;
Komara, Makanko;
Al‐Shamsi, Aisha M.;
John, Anne;
Ali, Bassam R.;
Al‐Gazali, Lihadh

Publication type:

Article

Maternal uniparental disomy of chromosome 15 and concomitant STRC and CATSPER2 deletion-mediated deafness-infertility syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1436, doi. 10.1002/ajmg.a.38154

By:

Karger, Lisa;
Khan, Wahab A.;
Calabio, Rafaela;
Singh, Ram;
Xiang, Bixia;
Babu, Arvind;
Cohen, Ninette;
Yang, Amy C.;
Scott, Stuart A.

Publication type:

Article