Works matching IS 15524825 AND DT 2016 AND VI 170 AND IP 12

Results: 57

The Importance of Chilblains as a Diagnostic Clue for Mild Aicardi-Goutières Syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3308, doi. 10.1002/ajmg.a.37944

By:

Yarbrough, Kevin;
Danko, Calida;
Krol, Alfons;
Zonana, Jonathan;
Leitenberger, Sabra

Publication type:

Article

The Bedside Dysmorphologist A Guide to Identifying and Assessing Congenital Malformations Second Edition.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3347, doi. 10.1002/ajmg.a.37955

By:

Wilson, Theodore E.

Publication type:

Article

First Report of Congenital Adrenal Cysts and Pheochromocytoma in a Patient with Mosaic Genome-Wide Paternal Uniparental Disomy.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3352, doi. 10.1002/ajmg.a.37959

By:

White, Mary;
McGillivray, George;
White, Sue M.;
Zacharin, Margaret R.

Publication type:

Article

SRD5A3-CDG: Expanding the Phenotype of a Congenital Disorder of Glycosylation with Emphasis on Adult Onset Features.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3165, doi. 10.1002/ajmg.a.37875

By:

Wheeler, Patricia G.;
Ng, Bobby G.;
Sanford, Laura;
Sutton, V. Reid;
Bartholomew, Dennis W.;
Pastore, Matthew T.;
Bamshad, Michael J.;
Kircher, Martin;
Buckingham, Kati J.;
Nickerson, Deborah A.;
Shendure, Jay;
Freeze, Hudson H.

Publication type:

Article

Somatic Mosaicism for a Lethal TRPV4 Mutation Results in Non-Lethal Metatropic Dysplasia.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3298, doi. 10.1002/ajmg.a.37942

By:

Weinstein, Michael M.;
Kang, Taekyu;
Lachman, Ralph S.;
Bamshad, Michael;
Nickerson, Deborah A.;
Krakow, Deborah;
Cohn, Daniel H.

Publication type:

Article

Importance of a Specialty Clinic for Individuals with Fragile X Syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3144, doi. 10.1002/ajmg.a.37982

By:

Visootsak, Jeannie;
Kidd, Sharon A.;
Anderson, Tovi;
Bassell, Julia L.;
Sherman, Stephanie L.;
Berry‐Kravis, Elizabeth M.

Publication type:

Article

Phenotypic Evolution of UNC80 Loss of Function.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3106, doi. 10.1002/ajmg.a.37929

By:

Valkanas, Elise;
Schaffer, Katherine;
Dunham, Christopher;
Maduro, Valerie;
du Souich, Christèle;
Rupps, Rosemarie;
Adams, David R.;
Baradaran‐Heravi, Alireza;
Flynn, Elise;
Malicdan, May C.;
Gahl, William A.;
Toro, Camilo;
Boerkoel, Cornelius F.

Publication type:

Article

Hirschsprung Disease as a Yet Undescribed Phenotype in a Patient with ARID1B Mutation.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3249, doi. 10.1002/ajmg.a.37861

By:

Takenouchi, Toshiki;
Yoshihashi, Hiroshi;
Sakaguchi, Yuri;
Uehara, Tomoko;
Honda, Masataka;
Takahashi, Takao;
Kosaki, Kenjiro;
Miyama, Sahoko

Publication type:

Article

Chromosome 5q33 Deletions Associated with Congenital Heart Defects.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3338, doi. 10.1002/ajmg.a.37957

By:

Starkovich, Molly;
Lalani, Seema R.;
Mercer, Catherine L.;
Scott, Daryl A.

Publication type:

Article

A Novel Familial Autosomal Dominant Mutation in ARID1B Causing Neurodevelopmental Delays, Short Stature, and Dysmorphic Features.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3313, doi. 10.1002/ajmg.a.37945

By:

Smith, Joshua A.;
Holden, Kenton R.;
Friez, Michael J.;
Jones, Julie R.;
Lyons, Michael J.

Publication type:

Article

Further Evidence for GRIN2B Mutation as the Cause of Severe Epileptic Encephalopathy.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3265, doi. 10.1002/ajmg.a.37887

By:

Smigiel, Robert;
Kostrzewa, Grazyna;
Kosinska, Joanna;
Pollak, Agnieszka;
Stawinski, Piotr;
Szmida, Elzbieta;
Bloch, Michal;
Szymanska, Krystyna;
Karpinski, Pawel;
Sasiadek, Maria M.;
Ploski, Rafal

Publication type:

Article

Detection of Gonadal Mosaicism in Hartsfield Syndrome by Next Generation Sequencing.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3359, doi. 10.1002/ajmg.a.37869

By:

Shi, Yong;
Dhamija, Radhika;
Wren, Catherine;
Wang, Xiangling;
Babovic‐Vuksanovic, Dusica;
Spector, Elaine

Publication type:

Article

Precision Assessment of Public Attitudes Toward Genetic Testing.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3185, doi. 10.1002/ajmg.a.37936

By:

Shen, Jun

Publication type:

Article

Detecting Celiac Disease in Patients with Down Syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3098, doi. 10.1002/ajmg.a.37879

By:

Sharr, Christianne;
Lavigne, Jenifer;
Elsharkawi, Ibrahim M. A.;
Ozonoff, Al;
Baumer, Nicole;
Brasington, Campbell;
Cannon, Sheila;
Crissman, Blythe;
Davidson, Emily;
Florez, Jose C.;
Kishnani, Priya;
Lombardo, Angela;
Lyerly, Jordan;
McDonough, Mary Ellen;
Schwartz, Alison;
Berrier, Kathryn L.;
Sparks, Susan;
Stock‐Guild, Kara;
Toler, Tomi L.;
Vellody, Kishore

Publication type:

Article

Joint Laxity in Homozygotes for Severe POU1F1 Mutations.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3356, doi. 10.1002/ajmg.a.37941

By:

Shamseldin, Hanan E.;
Maddirevula, Sateesh;
Nabil, Amira;
Al‐Fadhil, Saeed;
Al Tala, Saeed;
Alkuraya, Fowzan S.

Publication type:

Article

The Syndrome of Dysmorphic Facies, Renal Agenesis, Ambiguous Genitalia, Microcephaly, Polydactyly and Lissencephaly (DREAM-PL): Report of Two Additional Patients.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3222, doi. 10.1002/ajmg.a.37877

By:

Shaheen, Ranad;
Al‐Salam, Zakariya;
El‐Hattab, Ayman W.;
Alkuraya, Fowzan S.

Publication type:

Article

AUTS2 Syndrome in a 68-Year-Old Female: Natural History and Further Delineation of the Phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3231, doi. 10.1002/ajmg.a.37882

By:

Sengun, Ece;
Yararbas, Kanay;
Kasakyan, Serdar;
Alanay, Yasemin

Publication type:

Article

Growth Pattern in Kabuki Syndrome with a KMT2D Mutation.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3172, doi. 10.1002/ajmg.a.37930

By:

Schott, Dina A.;
Blok, Marinus J.;
Gerver, Willem J. M.;
Devriendt, Koenraad;
Zimmermann, Luc J. I.;
Stumpel, Constance T. R. M.

Publication type:

Article

Paternal Uniparental Disomy with Segmental Loss of Heterozygosity of Chromosome 11 are Hallmark Characteristics of Syndromic and Sporadic Embryonal Rhabdomyosarcoma.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3197, doi. 10.1002/ajmg.a.37949

By:

Robbins, Katherine M.;
Stabley, Deborah L.;
Holbrook, Jennifer;
Sahraoui, Rebecca;
Sadreameli, Alexa;
Conard, Katrina;
Baker, Laura;
Gripp, Karen W.;
Sol‐Church, Katia

Publication type:

Article

Diagnostic Conundrums in Antenatal Presentation of a Skeletal Dysplasia with Description of a Heterozygous C-Propeptide Mutation in COL1A1 Associated with a Severe Presentation of Osteogenesis Imperfecta.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3303, doi. 10.1002/ajmg.a.37943

By:

Marshall, Charlotte J.;
Arundel, Paul;
Mushtaq, Talat;
Offiah, Amaka C.;
Pollitt, Rebecca C.;
Bishop, Nicholas J.;
Balasubramanian, Meena

Publication type:

Article

Phenotypic Variability in Patients with Osteogenesis Imperfecta Caused by BMP1 Mutations.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3150, doi. 10.1002/ajmg.a.37958

By:

Pollitt, Rebecca C.;
Saraff, Vrinda;
Dalton, Ann;
Webb, Emma A.;
Shaw, Nick J.;
Sobey, Glenda J.;
Mughal, M. Zulf;
Hobson, Emma;
Ali, Farhan;
Bishop, Nicholas J.;
Arundel, Paul;
Högler, Wolfgang;
Balasubramanian, Meena

Publication type:

Article

Evidence for Troponin C (TNNC1) as a Gene for Autosomal Recessive Restrictive Cardiomyopathy with Fatal Outcome in Infancy.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3241, doi. 10.1002/ajmg.a.37860

By:

Ploski, Rafal;
Rydzanicz, Malgorzata;
Ksiazczyk, Tomasz M.;
Franaszczyk, Maria;
Pollak, Agnieszka;
Kosinska, Joanna;
Michalak, Ewa;
Stawinski, Piotr;
Ziolkowska, Lidia;
Bilinska, Zofia T.;
Werner, Bozena

Publication type:

Article

Concomitant 11p15.4-p15.5 Duplication and Terminal 22q13.33 Deletion in a Patient with Features of Beckwith-Wiedemann Syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3348, doi. 10.1002/ajmg.a.37939

By:

Peterson, Jess F.;
Bick, David P.;
Geddes, Gabrielle C.;
McCarrier, Julie;
Grignon, John W.;
Chirempes, Brett;
Broeckel, Ulrich;
Abidi, Fatima;
Rogers, Richard C.;
Boccuto, Luigi;
DuPont, Barbara;
vanTuinen, Peter

Publication type:

Article

Congenital Limb Deficiencies with Vascular Etiology: Possible Association with Maternal Thrombophilia.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3083, doi. 10.1002/ajmg.a.37890

By:

Ordal, Leslie;
Keunen, Johannes;
Martin, Nicole;
Shehata, Nadine;
Borschel, Gregory H.;
Clarke, Howard M.;
Toi, Ants;
Shuman, Cheryl;
Chitayat, David

Publication type:

Article

Autosomal and X Chromosome Structural Variants Are Associated with Congenital Heart Defects in Turner Syndrome: The NHLBI GenTAC Registry.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3157, doi. 10.1002/ajmg.a.37953

By:

Prakash, Siddharth K.;
Bondy, Carolyn A.;
Maslen, Cheryl L.;
Silberbach, Michael;
Lin, Angela E.;
Perrone, Laura;
Limongelli, Giuseppe;
Michelena, Hector I.;
Bossone, Eduardo;
Citro, Rodolfo;
Lemaire, Scott A.;
Body, Simon C.;
Milewicz, Dianna M.

Publication type:

Article

Typical Facial Gestalt in X-Linked Kabuki Syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3363, doi. 10.1002/ajmg.a.37864

By:

Margot, Henri;
Geneviève, David;
Gatinois, Vincent;
Arveiler, Benoit;
Moutton, Sébastien;
Touitou, Isabelle;
Lacombe, Didier

Publication type:

Article

Prenatal Diagnosis of Simpson-Golabi-Behmel Syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3258, doi. 10.1002/ajmg.a.37873

By:

Magini, Pamela;
Palombo, Flavia;
Boito, Simona;
Lanzoni, Giulia;
Mongelli, Patrizia;
Rizzuti, Tommaso;
Baccarin, Marco;
Pippucci, Tommaso;
Seri, Marco;
Lalatta, Faustina

Publication type:

Article

Clinical Intrafamilial Variability in Lethal Familial Neonatal Seizure Disorder Caused by TBC1D24 Mutations.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3207, doi. 10.1002/ajmg.a.37933

By:

Lozano, Reymundo;
Herman, Kristin;
Rothfuss, Melanie;
Rieger, Hillary;
Bayrak‐Toydemir, Pinar;
Aprile, Davide;
Fruscione, Floriana;
Zara, Federico;
Fassio, Anna

Publication type:

Article

Kabuki Syndrome as a Cause of Non-Immune Fetal Hydrops/Ascites.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3333, doi. 10.1002/ajmg.a.37956

By:

Long, Ashleigh;
Sinkovskaya, Elena S.;
Edmondson, Andrew C.;
Zackai, Elaine;
Schrier Vergano, Samantha A.

Publication type:

Article

Clinicians' Experiences with the Fragile X Clinical and Research Consortium.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3138, doi. 10.1002/ajmg.a.37948

By:

Liu, Jessica A.;
Hagerman, Randi J.;
Miller, Robert M.;
Craft, Lisa T.;
Finucane, Brenda;
Tartaglia, Nicole;
Berry‐Kravis, Elizabeth M.;
Sherman, Stephanie L.;
Kidd, Sharon A.;
Cohen, Jeffrey

Publication type:

Article

Maternal Uniparental Disomy for Chromosome 6 in a Patient with IUGR, Ambiguous Genitalia, and Persistent Mullerian Structures.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3227, doi. 10.1002/ajmg.a.37876

By:

Lazier, Joanna;
Martin, Nicole;
Stavropoulos, James Dimitrios;
Chitayat, David

Publication type:

Article

Vesicourethral Reflux-Induced Renal Failure in a Patient with ICF Syndrome Due to a Novel DNMT3B Mutation.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3253, doi. 10.1002/ajmg.a.37866

By:

Kutluğ, Seyhan;
Ogur, Gönül;
Yilmaz, Aysegül;
Thijssen, Peter E.;
Abur, Ummet;
Yildiran, Alisan

Publication type:

Article

Hypomorphic MKS1 Mutation in a Pakistani Family with Mild Joubert Syndrome and Atypical Features: Expanding the Phenotypic Spectrum of MKS1-Related Ciliopathies.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3289, doi. 10.1002/ajmg.a.37934

By:

Khan, Saadullah;
Ullah, Imran;
Nasir, Abdul;
Meijer, C. Arnoud;
Laurense‐Bik, Marlies;
den Dunnen, Johan T.;
Ruivenkamp, Claudia A. L.;
Hoffer, Mariëtte J. V.;
Santen, Gijs W. E.;
Ahmad, Wasim

Publication type:

Article

Somatic-Gonadal Mosaicism Causing Sotos Syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3360, doi. 10.1002/ajmg.a.37867

By:

Kamien, Benjamin;
Dadd, Tessa;
Buckman, Melissa;
Ronan, Anne;
Dudding, Tracy;
Meldrum, Cliff;
Scott, Rodney;
Mina, Kym

Publication type:

Article

Neonatal Progeriod Syndrome Associated with Biallelic Truncating Variants in POLR3A.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3343, doi. 10.1002/ajmg.a.37960

By:

Jay, Allison M.;
Conway, Robert L.;
Thiffault, Isabelle;
Saunders, Carol;
Farrow, Emily;
Adams, John;
Toriello, Helga V.

Publication type:

Article

Rodriguez Acrofacial Dysostosis Is Caused by Apparently De Novo Heterozygous Mutations in the SF3B4 Gene.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3133, doi. 10.1002/ajmg.a.37946

By:

Irving, Melita D.;
Dimitrov, Boyan I.;
Wessels, Marja;
Holder‐Espinasse, Muriel;
Chitayat, David;
Simpson, Michael A.

Publication type:

Article

Partially Methylated Alleles, Microdeletion, and Tissue Mosaicism in a Fragile X Male with Tremor and Ataxia at 30 Years of Age: A Case Report.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3327, doi. 10.1002/ajmg.a.37954

By:

Hwang, Yun Tae;
Aliaga, Solange Mabel;
Arpone, Marta;
Francis, David;
Li, Xin;
Chong, Belinda;
Slater, Howard Robert;
Rogers, Carolyn;
Bretherton, Lesley;
Hunter, Matthew;
Heard, Robert;
Godler, David Eugeny

Publication type:

Article

A Novel Mutation in PIGW Causes Glycosylphosphatidylinositol Deficiency without Hyperphosphatasia.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3319, doi. 10.1002/ajmg.a.37950

By:

Hogrebe, Max;
Murakami, Yoshiko;
Wild, Martin;
Ahlmann, Martina;
Biskup, Saskia;
Hörtnagel, Konstanze;
Grüneberg, Marianne;
Reunert, Janine;
Linden, Tobias;
Kinoshita, Taroh;
Marquardt, Thorsten

Publication type:

Article

FGFR-Associated Craniosynostosis Syndromes and Gastrointestinal Defects.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3215, doi. 10.1002/ajmg.a.37862

By:

Hibberd, Christine E.;
Bowdin, Sarah;
Arudchelvan, Yamini;
Forrest, Christopher R.;
Brakora, Katherine A.;
Marcucio, Ralph S.;
Gong, Siew‐Ging

Publication type:

Article

Response to Correspondence to Hale et al. Atypical Phenotypes Associated with Pathogenic CHD7 Variants and a Proposal for Broadening CHARGE Syndrome Clinical Diagnostic Criteria.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3367, doi. 10.1002/ajmg.a.37629

By:

Hale, Caitlin L.;
Niederriter, Adrienne N.;
Green, Glenn E.;
Martin, Donna M.

Publication type:

Article

Attitudes Toward Carrier Screening and Prenatal Diagnosis for Recessive Hereditary Deafness Among the Educated Population in Urban China.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3180, doi. 10.1002/ajmg.a.37932

By:

Fu, Xiaoli;
Cai, Yi;
Hu, Yechen;
Liu, Jisheng;
Yang, Tao

Publication type:

Article

Phenotype and Genotype in 52 Patients with Rubinstein-Taybi Syndrome Caused by EP300 Mutations.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3069, doi. 10.1002/ajmg.a.37940

By:

Fergelot, Patricia;
Van Belzen, Martine;
Van Gils, Julien;
Afenjar, Alexandra;
Armour, Christine M.;
Arveiler, Benoit;
Beets, Lex;
Burglen, Lydie;
Busa, Tiffany;
Collet, Marie;
Deforges, Julie;
de Vries, Bert B. A.;
Dominguez Garrido, Elena;
Dorison, Nathalie;
Dupont, Juliette;
Francannet, Christine;
Garciá‐Minaúr, Sixto;
Gabau Vila, Elisabeth;
Gebre‐Medhin, Samuel;
Gener Querol, Blanca

Publication type:

Article

Renal Angiomyolipoma in Birt-Hogg-Dube Syndrome: A Case Study Supporting Overlap with Tuberous Sclerosis Complex.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3323, doi. 10.1002/ajmg.a.37952

By:

Dow, Eryn;
Winship, Ingrid

Publication type:

Article

Unusual X-Chromosome Inactivation Pattern in Patients with Xp11.23-p11.22 Duplication: Report and Review.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3271, doi. 10.1002/ajmg.a.37888

By:

Di‐Battista, Adriana;
Meloni, Vera Ayres;
da Silva, Magnus Dias;
Moysés‐Oliveira, Mariana;
Melaragno, Maria Isabel

Publication type:

Article

Tietz/Waardenburg Type 2A Syndrome Associated with Posterior Microphthalmos in Two Unrelated Patients with Novel MITF Gene Mutations.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3294, doi. 10.1002/ajmg.a.37937

By:

Cortés‐González, Vianney;
Zenteno, Juan Carlos;
Guzmán‐Sánchez, Martín;
Giordano‐Herrera, Verónica;
Guadarrama‐Vallejo, Dalia;
Ruíz‐Quintero, Narlly;
Villanueva‐Mendoza, Cristina

Publication type:

Article

Much Ado About Something 2: Reflections on the State of the American Journal of Medical Genetics 2016.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3067, doi. 10.1002/ajmg.a.38037

By:

Carey, John C.

Publication type:

Article

Two Cases with De Novo 3q26.31 Microdeletion Suggest a Role for FNDC3B in Human Craniofacial Development.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3276, doi. 10.1002/ajmg.a.37892

By:

Cao, Yang;
Mitchell, Elyse B.;
Gorski, Jerome L.;
Hollinger, Cassandra;
Hoppman, Nicole L.

Publication type:

Article

Cognitive, Adaptive, and Behavioral Features in Joubert Syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3115, doi. 10.1002/ajmg.a.37938

By:

Bulgheroni, Sara;
D'Arrigo, Stefano;
Signorini, Sabrina;
Briguglio, Marilena;
Di Sabato, Maria Lucia;
Casarano, Manuela;
Mancini, Francesca;
Romani, Marta;
Alfieri, Paolo;
Battini, Roberta;
Zoppello, Marina;
Tortorella, Gaetano;
Bertini, Enrico;
Leuzzi, Vincenzo;
Valente, Enza Maria;
Riva, Daria

Publication type:

Article

11q Terminal Deletion and Combined Immunodeficiency (Jacobsen Syndrome): Case Report and Literature Review on Immunodeficiency in Jacobsen Syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3237, doi. 10.1002/ajmg.a.37859

By:

Blazina, Štefan;
Ihan, Alojz;
Lovrečić, Luca;
Hovnik, Tinka

Publication type:

Article

Correspondence to Hale et al. Atypical Phenotypes Associated with Pathogenic CHD7 Variants and a Proposal for Broadening CHARGE Syndrome Clinical Diagnostic Criteria.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3365, doi. 10.1002/ajmg.a.37627

By:

Blake, Kim;
Trider, Carrie‐Lee;
Hartshorne, Timothy S.;
Stratton, Kasee K.

Publication type:

Article