Works matching IS 15524825 AND DT 2023 AND VI 191 AND IP 2

Results: 45

Lessons in genetics: Common diseases occur in patients with a genetic syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 634, doi. 10.1002/ajmg.a.63046
By:
- Robin, Nathaniel H.
Publication type:
Article
Conducting clinical genomics research during the COVID‐19 pandemic: Lessons learned from the CSER consortium experience.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 391, doi. 10.1002/ajmg.a.63033
By:
- Kraft, Stephanie A.;
- Russell, Heidi;
- Bensen, Jeannette T.;
- Bonini, Katherine E.;
- Robinson, Jill O.;
- Sahin‐Hodoglugil, Nuriye;
- Renna, Kathleen;
- Hindorff, Lucia A.;
- Kaufman, Dave;
- Horowitz, Carol R.;
- Waltz, Margaret;
- Zepp, Jamilyn M.;
- Knight, Sara J.
Publication type:
Article
GM1‐gangliosidosis: The caregivers' assessments of symptom impact and most important symptoms to treat.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 408, doi. 10.1002/ajmg.a.63038
By:
- Bingaman, Amanda;
- Waggoner, Christine;
- Andrews, Sara M.;
- Pangonis, Diana;
- Trad, Marie;
- Giugliani, Roberto;
- Giorgino, Ruben;
- Jarnes, Jeanine;
- Vakili, Rojan;
- Ballard, Victoria;
- Peay, Holly L.
Publication type:
Article
Expanding SPG7 dominant optic atrophy phenotype: Infantile nystagmus and optic atrophy without spastic paraplegia.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 582, doi. 10.1002/ajmg.a.63037
By:
- Seo, Yuri;
- Lim, Hyun Taek;
- Lee, Byung Joo;
- Han, Jinu
Publication type:
Article
Expanding the spectrum of clinical severity of AICA‐ribosiduria: Report of two siblings with mild phenotype caused by a novel pathogenic variant in ATIC gene.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 575, doi. 10.1002/ajmg.a.63036
By:
- Galli, Jessica;
- Valente, Enza Maria;
- Dewulf, Joseph;
- Franzoni, Alessandra;
- Marie, Sandrine;
- Plumari, Massimo;
- Zanetti, Federica;
- Fazzi, Elisa
Publication type:
Article
Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller–Dieker syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 526, doi. 10.1002/ajmg.a.63057
By:
- Baker, Elizabeth K.;
- Brewer, Casey J.;
- Ferreira, Leonardo;
- Schapiro, Mark;
- Tenney, Jeffrey;
- Wied, Heather M.;
- Kline‐Fath, Beth M.;
- Smolarek, Teresa A.;
- Weaver, K. Nicole;
- Hopkin, Robert J.
Publication type:
Article
Variants in AQP11 may result in autosomal recessive bilateral cystic renal dysgenesis.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 612, doi. 10.1002/ajmg.a.63056
By:
- Price, Michael E.;
- Fishler, Kristen P.;
- Muff‐Luett, Melissa;
- Mauch, Teri J.;
- Brunelli, Luca;
- Euteneuer, Joshua C.
Publication type:
Article
Validation of a predictive model for obstructive sleep apnea in people with Down syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 518, doi. 10.1002/ajmg.a.63055
By:
- Skotko, Brian G.;
- Garza Flores, Alexandra;
- Elsharkawi, Ibrahim;
- Patsiogiannis, Vasiliki;
- McDonough, Mary Ellen;
- Verda, Damiano;
- Muselli, Marco;
- Hornero, Roberto;
- Gozal, David;
- Macklin, Eric A.
Publication type:
Article
Congenital diaphragmatic hernia in Coffin Siris syndrome: Further evidence from two cases.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 605, doi. 10.1002/ajmg.a.63054
By:
- Rimoldi, Martina;
- Rinaldi, Berardo;
- Villa, Roberta;
- Cerasani, Jacopo;
- Beltrami, Benedetta;
- Iascone, Maria;
- Silipigni, Rosamaria;
- Boito, Simona;
- Gangi, Silvana;
- Colombo, Lorenzo;
- Porro, Matteo;
- Cesaretti, Claudia;
- Bedeschi, Maria Francesca
Publication type:
Article
Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinics.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 510, doi. 10.1002/ajmg.a.63053
By:
- Mainali, Apurba;
- Athey, Taryn;
- Bahl, Shalini;
- Hung, Clara;
- Caluseriu, Oana;
- Chan, Alicia;
- Eaton, Alison;
- Ghai, Shailly Jain;
- Kannu, Peter;
- MacPherson, Melissa;
- Niederhoffer, Karen Y.;
- Siriwardena, Komudi;
- Mercimek‐Andrews, Saadet
Publication type:
Article
ZDHHC9 X‐linked intellectual disability: Clinical and molecular characterization.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 599, doi. 10.1002/ajmg.a.63052
By:
- Ramos, Anna Karolina Silva;
- Caldas‐Rosa, Erica Carine Campos;
- Ferreira, Bárbara Merfort;
- Versiani, Beatriz Ribeiro;
- Moretti, Patrícia Natalia;
- de Oliveira, Silviene Fabiana;
- Pic‐Taylor, Aline;
- Mazzeu, Juliana F.
Publication type:
Article
SOX3 duplication in a boy with 46,XX ovotesticular disorder of sex development and his 46,XX sister with atypical genitalia: Probable germline mosaicism.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 592, doi. 10.1002/ajmg.a.63051
By:
- de Oliveira, Flávia Marcorin;
- Barros, Beatriz Amstalden;
- dos Santos, Ana Paula;
- Campos, Nilma Lúcia Viguetti;
- Mazzola, Taís Nitsch;
- Filho, Paulo Latuf;
- Andrade, Liliana Aparecida Lucci De Angelo;
- Guaragna, Mara Sanches;
- de Mello, Maricilda Palandi;
- Guerra‐Junior, Gil;
- Vieira, Társis Antonio Paiva;
- Maciel‐Guerra, Andréa Trevas
Publication type:
Article
Fetal skeletal dysplasia cohort of a single tertiary referral center in Istanbul, Turkey.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 498, doi. 10.1002/ajmg.a.63050
By:
- Kalayci, Tugba;
- Altunoglu, Umut;
- Çorbacioglu Esmer, Aytul;
- Avcı, Şahin;
- Sarac Sivrikoz, Tugba;
- Karaman, Birsen;
- Kalelioğlu, İbrahim;
- Has, Recep;
- Uyguner, Zehra Oya;
- Yüksel, Atıl;
- Başaran, Seher;
- Kayserili, Hülya
Publication type:
Article
A diagnosis of Birt–Hogg–Dubé syndrome in individuals with Smith–Magenis syndrome: Recommendation for cancer screening.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 490, doi. 10.1002/ajmg.a.63049
By:
- Vocke, Cathy D.;
- Fleming, Leah R.;
- Piskorski, Anna M.;
- Amin, Ali;
- Phornphutkul, Chanika;
- de la Monte, Suzanne;
- Vilboux, Thierry;
- Duncan, Folami;
- Pellegrino, Joan;
- Braddock, Bonnie;
- Middelton, Lindsay A.;
- Schmidt, Laura S.;
- Merino, Maria J.;
- Cowen, Edward W.;
- Introne, Wendy J.;
- Linehan, W. Marston;
- Smith, Ann C. M.
Publication type:
Article
PORCN‐related microphthalmia with limb anomalies: Case report and literature review.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 636, doi. 10.1002/ajmg.a.63048
By:
- Fukahori, Kyoko;
- Yamoto, Kaori;
- Saitsu, Hirotomo;
- Ogata, Tsutomu;
- Nagasaki, Keisuke
Publication type:
Article
Growth charts for Marfan syndrome in the Netherlands and analysis of genotype–phenotype relationships.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 479, doi. 10.1002/ajmg.a.63047
By:
- Lauffer, Peter;
- Pals, Gerard;
- Zwinderman, Aeilko H.;
- Postema, Floor A. M.;
- Baars, Marieke J. H.;
- Dulfer, Eelco;
- Hilhorst‐Hofstee, Yvonne;
- Houweling, Arjan C.;
- Kempers, Marlies;
- Krapels, Ingrid P. C.;
- van de Laar, Ingrid M. B. H.;
- Loeys, Bart;
- Spaans, Alexander M. J.;
- Warnink‐Kavelaars, Jessica;
- de Waard, Vivian;
- Wit, Jan M.;
- Menke, Leonie A.
Publication type:
Article
A de novo hexokinase 1 (HK1) variant presenting as Boucher–Neuhäuser syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 624, doi. 10.1002/ajmg.a.63045
By:
- Peretz, Ryan H.;
- Zein, Wadih M.;
- Hufnagel, Robert B.;
- Ku, Christine;
- Godfrey, Rena;
- Wolfe, Lynne;
- Adams, David;
- Gahl, William;
- Toro, Camilo
Publication type:
Article
Anxiety in Wiedemann–Steiner syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 437, doi. 10.1002/ajmg.a.63040
By:
- Ng, Rowena;
- Bjornsson, Hans Tomas;
- Fahrner, Jill A.;
- Harris, Jacqueline
Publication type:
Article
Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 469, doi. 10.1002/ajmg.a.63044
By:
- Roessler, Franziska;
- Beck, Anita E.;
- Susie, Ball;
- Tobias, Bartolomaeus;
- Begtrup, Amber;
- Biskup, Saskia;
- Caluseriu, Oana;
- Delanty, Norman;
- Fröhlich, Christine;
- Greally, Marie T.;
- Karnstedt, Maike;
- Klöckner, Chiara;
- Kurtzberg, Joanne;
- Schubert, Susanna;
- Schulze, Martin;
- Weidenbach, Michael;
- Westphal, Dominik S.;
- White, Maire;
- Wolf, Cordula M.;
- Zyskind, Jacob
Publication type:
Article
Variable phenotype of secondary congenital corneal opacities associated with microphthalmia with linear skin defects syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 586, doi. 10.1002/ajmg.a.63043
By:
- Franco, Elena;
- Scanga, Hannah L.;
- Nischal, Ken K.
Publication type:
Article
The clinical features of OSTM1‐associated malignant infantile osteopetrosis: A retrospective, single‐center experience over one decade.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 459, doi. 10.1002/ajmg.a.63042
By:
- Alotaibi, Qutaibah;
- Dighe, Manjiri;
- Aldaihani, Saad
Publication type:
Article
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 445, doi. 10.1002/ajmg.a.63041
By:
- Jacquin, Clémence;
- Landais, Emilie;
- Poirsier, Céline;
- Afenjar, Alexandra;
- Akhavi, Ahmad;
- Bednarek, Nathalie;
- Bénech, Caroline;
- Bonnard, Adeline;
- Bosquet, Damien;
- Burglen, Lydie;
- Callier, Patrick;
- Chantot‐Bastaraud, Sandra;
- Coubes, Christine;
- Coutton, Charles;
- Delobel, Bruno;
- Descharmes, Margaux;
- Dupont, Jean‐Michel;
- Gatinois, Vincent;
- Gruchy, Nicolas;
- Guterman, Sarah
Publication type:
Article
A severe clinicopathologic phenotype of RAF1Ser257Leu neomutation in a preterm infant without cardiac anomaly.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 630, doi. 10.1002/ajmg.a.63035
By:
- Darouich, Sihem;
- Chakroun, Ahmed Sahbi;
- Bellamine, Houda;
- Khamassi, Ichrak
Publication type:
Article
The developmental trajectories of the behavioral phenotype and neuropsychiatric functioning in Cornelia de Lange and Rubinstein Taybi syndromes: A longitudinal study.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 424, doi. 10.1002/ajmg.a.63039
By:
- Ajmone, Paola Francesca;
- Giani, Ludovica;
- Allegri, Beatrice;
- Michelini, Giovanni;
- Dall'Ara, Francesca;
- Rigamonti, Claudia;
- Monti, Federico;
- Vizziello, Paola Giovanna;
- Selicorni, Angelo;
- Milani, Donatella;
- Scaini, Simona;
- Costantino, Antonella
Publication type:
Article
Interstitial microdeletions of 3q26.2q26.31 in two patients with neurodevelopmental delay and distinctive features.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 400, doi. 10.1002/ajmg.a.63034
By:
- Tamura, Takeaki;
- Yamamoto Shimojima, Keiko;
- Shiihara, Takashi;
- Sakazume, Satoru;
- Okamoto, Nobuhiko;
- Yagasaki, Hiroshi;
- Morioka, Ichiro;
- Kanno, Hitoshi;
- Yamamoto, Toshiyuki
Publication type:
Article
SCAF4‐related syndromic intellectual disability.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 570, doi. 10.1002/ajmg.a.63032
By:
- Carvalho, Laura Machado Lara;
- Pinto, Carla Franchi;
- de Oliveira Scliar, Marília;
- Otto, Paulo A.;
- Krepischi, Ana Cristina Victorino;
- Rosenberg, Carla
Publication type:
Article
Botulinum toxin to improve facial expression in a patient with Urofacial (Ochoa) Syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 559, doi. 10.1002/ajmg.a.63025
By:
- Barbon, Carlotta;
- Grünherz, Lisanne;
- Schweizer, Riccardo;
- Lindenblatt, Nicole;
- Giovanoli, Pietro
Publication type:
Article
Gillessen‐Kaesbach‐Nishimura syndrome in two fetuses from Turkey.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 617, doi. 10.1002/ajmg.a.63024
By:
- Kaymak, Didem;
- Alpay, Verda;
- Davutoğlu, Ebru Alıcı;
- Elçi, Oguzhan;
- Yiğin, Aysel Kalaycı;
- Tüysüz, Beyhan;
- Madazlı, Riza
Publication type:
Article
Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 378, doi. 10.1002/ajmg.a.63031
By:
- Nordenskjöld, Agneta;
- Arkani, Samara;
- Pettersson, Maria;
- Winberg, Johanna;
- Cao, Jia;
- Fossum, Magdalena;
- Anderberg, Magnus;
- Barker, Gillian;
- Holmdahl, Gundela;
- Lundin, Johanna
Publication type:
Article
Evolution in the clinic: Maladaptive units and "minor anomalies".
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 640, doi. 10.1002/ajmg.a.63028
By:
- Carey, John C.;
- Opitz, John M.
Publication type:
Article
Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 357, doi. 10.1002/ajmg.a.63027
By:
- Baker, Emma K.;
- Arpone, Marta;
- Bui, Minh;
- Kraan, Claudine M.;
- Ling, Ling;
- Francis, David;
- Hunter, Mathew F.;
- Rogers, Carolyn;
- Field, Michael J.;
- Santa María, Lorena;
- Faundes, Víctor;
- Curotto, Bianca;
- Morales, Paulina;
- Trigo, Cesar;
- Salas, Isabel;
- Alliende, Angelica M.;
- Amor, David J.;
- Godler, David E.
Publication type:
Article
Familial Beckwith‐Wiedemann syndrome in a multigenerational family: Forty years of careful phenotyping.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 348, doi. 10.1002/ajmg.a.63026
By:
- Best, Lyle G.;
- Duffy, Kelly A.;
- George, Andrew M.;
- Ganguly, Arupa;
- Kalish, Jennifer M.
Publication type:
Article
5p13 microduplication in a malformed fetus and his unaffected father.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 370, doi. 10.1002/ajmg.a.63030
By:
- Kariminejad, Ariana;
- Ghaderi‐Sohi, Siavash;
- Gholami, Soheila;
- Najafi, Kimia;
- Kariminejad, Roxana;
- Hennekam, Raoul C. M.
Publication type:
Article
18‐year follow‐up of enzyme‐replacement therapy in two siblings with attenuated mucopolysaccharidosis I.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 564, doi. 10.1002/ajmg.a.63029
By:
- Pjetraj, Dorina;
- Santoro, Lucia;
- Sgattoni, Claudia;
- Padella, Lucia;
- Zampini, Lucia;
- Monachesi, Chiara;
- Gabrielli, Orazio;
- Catassi, Carlo
Publication type:
Article
Increased intracranial pressure in a patient with Congenital Heart Defect and Ectodermal Dysplasia (CHDED): Extension of phenotype and review of literature.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 554, doi. 10.1002/ajmg.a.63023
By:
- Alghaith, Fahad A.;
- Arts, Heleen H.;
- Plourde, Francois J.;
- Boswall, Andrew;
- Gulati, Partima;
- McNeely, P. Daniel;
- Acott, Philip D.;
- Wong, Kenny K.;
- Dyack, Sarah
Publication type:
Article
The implementation of an enhanced clinical model to improve the diagnostic yield of exome sequencing for patients with a rare genetic disease: A Canadian experience.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 338, doi. 10.1002/ajmg.a.63022
By:
- Ediae, Grace Uwaila;
- Lemire, Gabrielle;
- Chisholm, Caitlin;
- Hartley, Taila;
- Eaton, Alison;
- Osmond, Matthew;
- Rojas, Samantha K.;
- Huang, Lijia;
- Gillespie, Meredith;
- Sawyer, Sarah L.;
- Boycott, Kym M.
Publication type:
Article
Biallelic GTF2IRD1 variants in brothers with profound neurodevelopmental disorder: A possible novel disorder involving a critical gene for Williams syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 332, doi. 10.1002/ajmg.a.63021
By:
- Cummings, Christopher Thomas;
- Starr, Lois Janelle
Publication type:
Article
Obstetrical and neonatal outcomes of cardio‐facio‐cutaneous syndrome: Prenatal consequences of Ras/MAPK dysregulation.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 323, doi. 10.1002/ajmg.a.63020
By:
- Jelin, Angie C.;
- Mahle, Amanda;
- Tran, Susan H.;
- Sparks, Teresa N.;
- Rauen, Katherine A.
Publication type:
Article
Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2‐related distal arthrogryposis type 5.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 546, doi. 10.1002/ajmg.a.63019
By:
- Oliwa, Agata;
- Hendson, Glenda;
- Longman, Cheryl;
- Synnes, Anne;
- Seath, Kim;
- Barnicoat, Angela;
- Hall, Judith G.;
- Patel, Millan S.
Publication type:
Article
Further characterization of NFIB‐associated phenotypes: Report of two new individuals.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 540, doi. 10.1002/ajmg.a.63018
By:
- Marinella, Gemma;
- Conti, Eugenia;
- Buchignani, Bianca;
- Sgherri, Giada;
- Pasquariello, Rosa;
- Giordano, Flavio;
- Cristofani, Paola;
- Battini, Roberta;
- Battaglia, Agatino
Publication type:
Article
In This Issue.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 321, doi. 10.1002/ajmg.a.62792
Publication type:
Article
Evidence Grows for Universal Germline Genetic Testing for Patients with Breast Cancer.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 319, doi. 10.1002/ajmg.a.62791
Publication type:
Article
Addressing the Weaponization of Genetic Research.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 318, doi. 10.1002/ajmg.a.62790
Publication type:
Article
Publication schedule for 2023.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 317, doi. 10.1002/ajmg.a.62789
Publication type:
Article
Table of Contents, Volume 191A, Number 2 February 2023.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 311, doi. 10.1002/ajmg.a.62788
Publication type:
Article