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

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

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

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

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