Works matching IS 15524825 AND DT 2019 AND VI 179 AND IP 7

Results: 46

In This Issue.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1117, doi. 10.1002/ajmg.a.61214
Publication type:
Article
CRISPR Gene Editing Successfully Treats Lethal Monogenic Lung Disease in Utero.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1116, doi. 10.1002/ajmg.a.61213
Publication type:
Article
Cover Image, Volume 179A, Number 7, July 2019.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. N.PAG, doi. 10.1002/ajmg.a.61212
By:
- Gucev, Zoran;
- Tasic, Velibor;
- Plaseska‐Karanfilska, Dijana;
- Dimishkovska, Marija;
- Laban, Nevenka;
- Bozinovski, Zoran;
- Kostovski, Marko;
- Saveski, Alek;
- Polenakovic, Momir;
- Towler, O. Will;
- Shore, Eileen M.;
- Kaplan, Frederick S.
Publication type:
Article
Onward and upward.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1119, doi. 10.1002/ajmg.a.61207
By:
- Muenke, Maximilian
Publication type:
Article
Transient N‐glycosylation abnormalities likely due to a de novo loss‐of‐function mutation in the delta subunit of coat protein I.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1371, doi. 10.1002/ajmg.a.61190
By:
- Reunert, Janine;
- Rust, Stephan;
- Grüneberg, Marianne;
- Seelhöfer, Anja;
- Kurz, Daniel;
- Ocker, Volker;
- Weber, Dorothea;
- Fingerhut, Ralph;
- Marquardt, Thorsten
Publication type:
Article
Arnold‐Chiari type 1 malformation in Potocki–Lupski syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1366, doi. 10.1002/ajmg.a.61187
By:
- Varon, Alberto;
- Whitt, Zachary;
- Kalika, Paige M.;
- Potocki, Lorraine;
- Barbouth, Deborah S.;
- Walz, Katherina
Publication type:
Article
SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1362, doi. 10.1002/ajmg.a.61186
By:
- Hakonen, Anna H.;
- Polvi, Anne;
- Saloranta, Carola;
- Paetau, Anders;
- Heikkilä, Päivi;
- Almusa, Henrikki;
- Ellonen, Pekka;
- Jakkula, Eveliina;
- Saarela, Janna;
- Aittomäki, Kristiina
Publication type:
Article
PIGQ glycosylphosphatidylinositol‐anchored protein deficiency: Characterizing the phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1270, doi. 10.1002/ajmg.a.61185
By:
- Starr, Lois J.;
- Spranger, Jürgen W.;
- Rao, Vamshi K.;
- Lutz, Richard;
- Yetman, Anji T.
Publication type:
Article
Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1260, doi. 10.1002/ajmg.a.61183
By:
- Marini, Nicholas J.;
- Asrani, Kripa;
- Yang, Wei;
- Rine, Jasper;
- Shaw, Gary M.
Publication type:
Article
Review of the phenotypic spectrum associated with haploinsufficiency of MYRF.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1376, doi. 10.1002/ajmg.a.61182
By:
- Rossetti, Linda Z.;
- Glinton, Kevin;
- Yuan, Bo;
- Liu, Pengfei;
- Pillai, Nishitha;
- Mizerik, Elizabeth;
- Magoulas, Pilar;
- Rosenfeld, Jill A.;
- Karaviti, Lefkothea;
- Sutton, Vernon R.;
- Lalani, Seema R.;
- Scott, Daryl A.
Publication type:
Article
Cycloid Psychosis Comorbid with Prader–Willi Syndrome: A Case Series.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1241, doi. 10.1002/ajmg.a.61181
By:
- Singh, Deepan;
- Sasson, Arielle;
- Rusciano, Vanessa;
- Wakimoto, Yuji;
- Pinkhasov, Aaron;
- Angulo, Moris
Publication type:
Article
The first case report of medulloblastoma associated with Tatton‐Brown–Rahman syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1357, doi. 10.1002/ajmg.a.61180
By:
- Sweeney, Kieron J.;
- Mottolese, Carmine;
- Belot, Alexandre;
- Szathmari, Alexandru;
- Frappaz, Didier;
- Lesca, Gaetan;
- Putoux, Audrey;
- Di Rocco, Federico
Publication type:
Article
Hereditary spastic paraplegia type 35 in a family from Mali.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1122, doi. 10.1002/ajmg.a.61179
By:
- Landouré, Guida;
- Dembélé, Kékouta;
- Cissé, Lassana;
- Samassékou, Oumar;
- Diarra, Salimata;
- Bocoum, Abdoulaye;
- Dembélé, Mohamede E.;
- Fischbeck, Kenneth H.;
- Guinto, Cheick O.
Publication type:
Article
Intestinal lymphangiectasia—A novel finding in Van Maldergem syndrome challenging the role of lymphedema for the distinction from Hennekam syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1398, doi. 10.1002/ajmg.a.61178
By:
- de Meij, Tim G. J.;
- Zwijnenburg, Petra J. G.;
- Broers, Chantal J. M.;
- Bökenkamp, Arend
Publication type:
Article
WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1351, doi. 10.1002/ajmg.a.61177
By:
- Brunelle, Perrine;
- Jourdain, Anne‐Sophie;
- Escande, Fabienne;
- Martinovic, Jelena;
- Dupont, Juliette;
- Busa, Tiffany;
- Moncla, Anne;
- Frénois, Frédéric;
- Stichelbout, Morgane;
- Manouvrier‐Hanu, Sylvie;
- Petit, Florence
Publication type:
Article
Phenotypic spectrum of ALPK3‐related cardiomyopathy.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1235, doi. 10.1002/ajmg.a.61176
By:
- Al Senaidi, Khalfan;
- Joshi, Niranjan;
- Al‐Nabhani, Maryam;
- Al‐Kasbi, Ghalia;
- Al Farqani, Abdullah;
- Al‐Thihli, Khalid;
- Al‐Maawali, Almundher
Publication type:
Article
Pain in hypermobile Ehlers‐Danlos syndrome: New insights using new criteria.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1226, doi. 10.1002/ajmg.a.61175
By:
- Bénistan, Karelle;
- Martinez, Valeria
Publication type:
Article
Clinical and molecular spectrum of CHOPS syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1126, doi. 10.1002/ajmg.a.61174
By:
- Raible, Sarah E.;
- Mehta, Devanshi;
- Bettale, Chiara;
- Fiordaliso, Sarah;
- Kaur, Maninder;
- Medne, Livija;
- Rio, Marlene;
- Haan, Eric;
- White, Susan M.;
- Cusmano‐Ozog, Kristina;
- Nishi, Eriko;
- Guo, Yiran;
- Wu, Honglin;
- Shi, Xiaoqing;
- Zhao, Qingjie;
- Zhang, Xueqin;
- Lei, Qi;
- Lu, Aimei;
- He, Xiyu;
- Okamoto, Nobuhiko
Publication type:
Article
Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1276, doi. 10.1002/ajmg.a.61173
By:
- Stolerman, Elliot S.;
- Francisco, Elizabeth;
- Stallworth, Jennifer L.;
- Jones, Julie R.;
- Monaghan, Kristin G.;
- Keller‐Ramey, Jennifer;
- Person, Richard;
- Wentzensen, Ingrid M.;
- McWalter, Kirsty;
- Keren, Boris;
- Heron, Benedicte;
- Nava, Caroline;
- Heron, Delphine;
- Kim, Katherine;
- Burton, Barbara;
- Al‐Musafri, Fatima;
- O'Grady, Lauren;
- Sahai, Inderneel;
- Escobar, Luis F.;
- Meuwissen, Marije
Publication type:
Article
Homozygous variants in the gene SCAPER cause syndromic intellectual disability.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1214, doi. 10.1002/ajmg.a.61172
By:
- Kahrizi, Kimia;
- Huber, Mareike;
- Galetzka, Danuta;
- Dewi, Sri;
- Schröder, Julia;
- Weis, Eva;
- Kariminejad, Ariana;
- Fattahi, Zoherh;
- Ropers, Hans‐Hilger;
- Schweiger, Susann;
- Najmabadi, Hossein;
- Winter, Jennifer
Publication type:
Article
A report on state‐wide implementation of newborn screening for X‐linked Adrenoleukodystrophy.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1205, doi. 10.1002/ajmg.a.61171
By:
- Wiens, Katie;
- Berry, Susan A.;
- Choi, Hyoung;
- Gaviglio, Amy;
- Gupta, Ashish;
- Hietala, Amy;
- Kenney‐Jung, Daniel;
- Lund, Troy;
- Miller, Weston;
- Pierpont, Elizabeth I.;
- Raymond, Gerald;
- Winslow, Holly;
- Zierhut, Heather A.;
- Orchard, Paul J.
Publication type:
Article
Biallelic human ITCH variants causing a multisystem disease with dysmorphic features: A second report.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1346, doi. 10.1002/ajmg.a.61169
By:
- Brittain, Helen K.;
- Feary, Johanna;
- Rosenthal, Mark;
- Spoudeas, Helen;
- Wilson, Louise C.
Publication type:
Article
A novel biallelic loss‐of‐function mutation in TMCO1 gene confirming and expanding the phenotype spectrum of cerebro‐facio‐thoracic dysplasia.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1338, doi. 10.1002/ajmg.a.61168
By:
- Sharkia, Rajech;
- Zalan, Abdelnaser;
- Jabareen‐Masri, Azhar;
- Hengel, Holger;
- Schöls, Ludger;
- Kessel, Amit;
- Azem, Abdussalam;
- Mahajnah, Muhammad
Publication type:
Article
Sleep‐disordered breathing in children with mucolipidosis.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1196, doi. 10.1002/ajmg.a.61167
By:
- Tabone, Laurence;
- Caillaud, Catherine;
- Amaddeo, Alessandro;
- Khirani, Sonia;
- Michot, Caroline;
- Couloigner, Vincent;
- Brassier, Anais;
- Cormier‐Daire, Valerie;
- Baujat, Geneviève;
- Fauroux, Brigitte
Publication type:
Article
Looking for the hidden mutation: Bannayan–Riley–Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1383, doi. 10.1002/ajmg.a.61166
By:
- Golas, Monika M.;
- Auber, Bernd;
- Ripperger, Tim;
- Pabst, Brigitte;
- Schmidt, Gunnar;
- Morlot, Michel;
- Diebold, Uta;
- Steinemann, Doris;
- Schlegelberger, Brigitte;
- Morlot, Susanne
Publication type:
Article
Expansions and contractions of the FMR1 CGG repeat in 5,508 transmissions of normal, intermediate, and premutation alleles.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1148, doi. 10.1002/ajmg.a.61165
By:
- Nolin, Sarah L.;
- Glicksman, Anne;
- Tortora, Nicole;
- Allen, Emily;
- Macpherson, James;
- Mila, Montserrat;
- Vianna‐Morgante, Angela M.;
- Sherman, Stephanie L.;
- Dobkin, Carl;
- Latham, Gary J.;
- Hadd, Andrew G.
Publication type:
Article
Diagnosis and management of the phenotypic spectrum of twins with Beckwith‐Wiedemann syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1139, doi. 10.1002/ajmg.a.61164
By:
- Cohen, Jennifer L.;
- Duffy, Kelly A.;
- Sajorda, Brian J.;
- Hathaway, Evan R.;
- Gonzalez‐Gandolfi, Christina X.;
- Richards‐Yutz, Jennifer;
- Gunter, Andrew T.;
- Ganguly, Arupa;
- Kaplan, Julie;
- Deardorff, Matthew A.;
- Kalish, Jennifer M.
Publication type:
Article
Identification of novel pathogenic variants and features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly classified inactivating PTH/PTHrP signaling disorders.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1330, doi. 10.1002/ajmg.a.61163
By:
- Truelove, Adam;
- Mulay, Akhilesh;
- Prapa, Matina;
- Casey, Ruth T.;
- Adler, Amanda I.;
- Offiah, Amaka C.;
- Poole, Kenneth E. S.;
- Trotman, Jamie;
- Al Hasso, Namir;
- Park, Soo‐Mi
Publication type:
Article
Alveolar capillary dysplasia with misalignment of the pulmonary veins and hypoplastic left heart sequence caused by an in frame deletion within FOXF1.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1325, doi. 10.1002/ajmg.a.61162
By:
- Bourque, Danielle K.;
- Fonseca, Inara Chacon;
- Staines, Andrea;
- Teitelbaum, Ronni;
- Axford, Michelle M.;
- Jobling, Rebekah;
- Chiasson, David;
- Chitayat, David
Publication type:
Article
Neurofibromatosis type 1 of the child increases birth weight.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1173, doi. 10.1002/ajmg.a.61161
By:
- Leppävirta, Jussi;
- Kallionpää, Roope A.;
- Uusitalo, Elina;
- Vahlberg, Tero;
- Pöyhönen, Minna;
- Peltonen, Juha;
- Peltonen, Sirkku
Publication type:
Article
First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1319, doi. 10.1002/ajmg.a.61160
By:
- Leoni, Chiara;
- Gullo, Giuseppe;
- Resta, Nicoletta;
- Fagotti, Anna;
- Onesimo, Roberta;
- Schwartz, Brian;
- Kazakin, Julia;
- Abbadessa, Giovanni;
- Crown, John;
- Collins, Conor D.;
- Ranieri, Carlotta;
- Scambia, Giovanni;
- Zampino, Giuseppe
Publication type:
Article
Male CDPX2 patient with EBP mosaicism and asymmetrically lateralized skin lesions with strict midline demarcation.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1315, doi. 10.1002/ajmg.a.61159
By:
- Horinouchi, Tomoko;
- Morisada, Naoya;
- Uemura, Hiroyasu;
- Kobayashi, Daisuke;
- Nozu, Kandai;
- Okamoto, Nobuhiko;
- Iijima, Kazumoto
Publication type:
Article
16q22.1 microdeletion and anticipatory guidance.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1287, doi. 10.1002/ajmg.a.61155
By:
- Abdullah, Sarah;
- Helal, Mayada;
- Dupuis, Lucie;
- Stavropoulos, D. James;
- Louro, Pedro;
- Ramos, Lina;
- Mendoza‐Londono, Roberto
Publication type:
Article
Further expanding the mutational spectrum and investigation of genotype–phenotype correlation in 3M syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1157, doi. 10.1002/ajmg.a.61154
By:
- Simsek‐Kiper, Pelin Ozlem;
- Taskiran, Ekim;
- Kosukcu, Can;
- Arslan, Umut Ece;
- Cormier‐Daire, Valérie;
- Gonc, Nazlı;
- Ozon, Alev;
- Alikasifoglu, Ayfer;
- Kandemir, Nurgun;
- Utine, Gulen Eda;
- Alanay, Yasemin;
- Alikasifoglu, Mehmet;
- Boduroglu, Koray
Publication type:
Article
Severe digital malformations in a rare variant of fibrodysplasia ossificans progressiva.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1310, doi. 10.1002/ajmg.a.61153
By:
- Gucev, Zoran;
- Tasic, Velibor;
- Plaseska‐Karanfilska, Dijana;
- Dimishkovska, Marija;
- Laban, Nevenka;
- Bozinovski, Zoran;
- Kostovski, Marko;
- Saveski, Alek;
- Polenakovic, Momir;
- Towler, O. Will;
- Shore, Eileen M.;
- Kaplan, Frederick S.
Publication type:
Article
Palatal evaluation and treatment in 22q11.2 deletion syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1184, doi. 10.1002/ajmg.a.61152
By:
- Jackson, Oksana;
- Crowley, T. Blaine;
- Sharkus, Robert;
- Smith, Robert;
- Jeong, Stephanie;
- Solot, Cynthia;
- McDonald‐Mcginn, Donna
Publication type:
Article
A novel de novo PDGFRB variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1304, doi. 10.1002/ajmg.a.61151
By:
- Guimier, Anne;
- Gordon, Christopher T.;
- Hully, Marie;
- Blauwblomme, Thomas;
- Minard‐Colin, Véronique;
- Bole‐Feysot, Christine;
- Nitschké, Patrick;
- Oufadem, Myriam;
- Boddaert, Nathalie;
- Sarnacki, Sabine;
- Amiel, Jeanne
Publication type:
Article
A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1299, doi. 10.1002/ajmg.a.61150
By:
- Edward, Heather L.;
- D'Gama, Alissa M.;
- Wojcik, Monica H.;
- Brownstein, Catherine A.;
- Kenna, Margaret A.;
- Grant, P. Ellen;
- Majzoub, Joseph A.;
- Agrawal, Pankaj B.
Publication type:
Article
Schimke immunoosseous dysplasia and management considerations for vascular risks.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1246, doi. 10.1002/ajmg.a.61148
By:
- Beleford, Daniah T.;
- Diab, Mohammad;
- Qubty, William F.;
- Malloy, Mary J.;
- Long, Roger K.;
- Shieh, Joseph T.
Publication type:
Article
Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1390, doi. 10.1002/ajmg.a.61147
By:
- Ghesh, Leila;
- Vincent, Marie;
- Delemazure, Anne‐Sophie;
- Boyer, Julie;
- Corre, Pierre;
- Perez, Fabienne;
- Geneviève, David;
- Laplanche, Jean‐Louis;
- Collet, Corinne;
- Isidor, Bertrand
Publication type:
Article
Factors related to survival discharge in trisomy 18: A retrospective multicenter study.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1253, doi. 10.1002/ajmg.a.61146
By:
- Kato, Eiko;
- Kitase, Yuma;
- Tachibana, Takashi;
- Hattori, Tetsuo;
- Saito, Akiko;
- Muramatsu, Yukako;
- Takemoto, Koji;
- Yamamoto, Hikaru;
- Hayashi, Seiji;
- Yasuda, Ayako;
- Kato, Yuichi;
- Ieda, Kuniko;
- Oshiro, Makoto;
- Sato, Yoshiaki;
- Hayakawa, Masahiro
Publication type:
Article
Status dystonicus, hyperpyrexia, and acute kidney injury in a patient with SOX2‐anophthalmia syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1395, doi. 10.1002/ajmg.a.61144
By:
- Martinez, Edmundo;
- Madsen, Erik C.
Publication type:
Article
TMEM70 deficiency: Novel mutation and hypercitrullinemia during metabolic decompensation.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1293, doi. 10.1002/ajmg.a.61138
By:
- Staretz‐Chacham, Orna;
- Wormser, Ohad;
- Manor, Esther;
- Birk, Ohad S.;
- Ferreira, Carlos R.
Publication type:
Article
New Gene Therapy Potential Cure for "Bubble Boy Disease": An experimental gene therapy has allowed children with SCID‐1X to develop fully functioning immune systems.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1114, doi. 10.1002/ajmg.a.40453
Publication type:
Article
Publication schedule for 2019.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1113, doi. 10.1002/ajmg.a.40452
Publication type:
Article
Table of Contents, Volume 179A, Number 7, July 2019.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1107, doi. 10.1002/ajmg.a.40451
Publication type:
Article