Works matching IS 15524825 AND DT 2021 AND VI 185 AND IP 9

Results: 33

A celebration in honor of John M. Graham, Jr, MD, ScD.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2617, doi. 10.1002/ajmg.a.62404

By:

D'Cunha Burkardt, Deepika;
Sanchez‐Lara, Pedro A.;
Girisha, Katta M.;
Golden, Jeffrey A.;
Carey, John C.

Publication type:

Article

Nonlethal presentations of CYP26B1‐related skeletal anomalies and multiple synostoses syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2766, doi. 10.1002/ajmg.a.62387

By:

Grand, Katheryn;
Skraban, Cara M.;
Cohen, Jennifer L.;
Dowsett, Leah;
Mazzola, Sarah;
Tarpinian, Jennifer;
Bedoukian, Emma;
Nesbitt, Addie;
Denenberg, Beth;
Lulis, Lauren;
Santani, Avni;
Zackai, Elaine H.;
Deardorff, Matthew A.

Publication type:

Article

Never quit on hills: John M. Graham, Jr. MD, ScD, as mentor.

Published in:: American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2650, doi. 10.1002/ajmg.a.62388
Publication type:: Article

Whole genome sequencing identifies a cryptic SOX9 regulatory element duplication underlying a case of 46,XX ovotesticular difference of sexual development.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2782, doi. 10.1002/ajmg.a.62373

By:

Qian, Zhiyu;
Grand, Katheryn;
Freedman, Andrew;
Nieto, Maria C.;
Behlmann, Andrea;
Schweiger, Bahareh M.;
Sanchez‐Lara, Pedro A.

Publication type:

Article

Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2719, doi. 10.1002/ajmg.a.62362

By:

Pirozzi, Filomena;
Lee, Benson;
Horsley, Nicole;
Burkardt, Deepika D.;
Dobyns, William B.;
Graham, John M.;
Dentici, Maria L.;
Cesario, Claudia;
Schallner, Jens;
Porrmann, Joseph;
Di Donato, Nataliya;
Sanchez‐Lara, Pedro A.;
Mirzaa, Ghayda M.

Publication type:

Article

Novel findings and expansion of phenotype in a mosaic RASopathy caused by somatic KRAS variants.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2829, doi. 10.1002/ajmg.a.62356

By:

Chang, Caitlin A.;
Perrier, Renee;
Kurek, Kyle C.;
Estrada‐Veras, Juvianee;
Lehman, Anna;
Yip, Stephen;
Hendson, Glenda;
Diamond, Carol;
Pinchot, Jason W.;
Tran, Jennifer M.;
Arkin, Lisa M.;
Drolet, Beth A.;
Napier, Melanie P.;
O'Neill, Sarah A.;
Balci, Tugce B.;
Keppler‐Noreuil, Kim M.

Publication type:

Article

The delineation of the Wolf‐Hirschhorn syndrome over six decades: Illustration of the ongoing advances in phenotype analysis and cytogenomic technology.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2748, doi. 10.1002/ajmg.a.62341

By:

Battaglia, Agatino;
Carey, John C.

Publication type:

Article

Postoperative helmet therapy following fronto‐orbital advancement and cranial vault remodeling in patients with unilateral coronal synostosis.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2670, doi. 10.1002/ajmg.a.62256

By:

Wolfswinkel, Erik M.;
Sanchez‐Lara, Pedro A.;
Jacob, Laya;
Urata, Mark M.

Publication type:

Article

Congenital defects of glycosylation: Novel presentations with mainly neurological involvement and variable dysmorphic features.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2739, doi. 10.1002/ajmg.a.62247

By:

İnci, Aslı;
Cengiz, Başak;
Biberoğlu, Gürsel;
Okur, İlyas;
Arhan, Ebru;
Öner, Ali Yusuf;
Kasapkara, Çiğdem Seher;
Küçükçongar, Aynur;
Tümer, Leyla;
Ezgu, Fatih

Publication type:

Article

Pediatric Cushing syndrome: An early sign of an underling cancer predisposition syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2824, doi. 10.1002/ajmg.a.62255

By:

Schweiger, Bahareh M.;
Esakhan, Chaya L.;
Frishberg, David;
Grand, Katheryn;
Garg, Ruchira;
Sanchez‐Lara, Pedro A.

Publication type:

Article

Hypoxia: A teratogen underlying a range of congenital disruptions, dysplasias, and malformations.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2801, doi. 10.1002/ajmg.a.62235

By:

Adam, Aaron P.;
Payton, Kurlen S. E.;
Sanchez‐Lara, Pedro A.;
Adam, Margaret P.;
Mirzaa, Ghayda M.

Publication type:

Article

Characterization of sleep habits of children with Sotos syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2815, doi. 10.1002/ajmg.a.62212

By:

Stafford, Christine F.;
Ward, Carrie;
Ward, Sally L. D.;
Sanchez‐Lara, Pedro A.

Publication type:

Article

Classifications of split hand foot malformation (SHFM) should include transverse deficiencies: Why Maisels was correct.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2809, doi. 10.1002/ajmg.a.62242

By:

Elliott, Alison M.;
Scott, William J.;
Chudley, Albert E.;
Reed, Martin H.;
Evans, Jane A.

Publication type:

Article

Next‐generation sequencing and the evolution of data sharing.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2633, doi. 10.1002/ajmg.a.62239

By:

de Macena Sobreira, Nara Lygia;
Hamosh, Ada

Publication type:

Article

A lasting imprint.

Published in:: American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2649, doi. 10.1002/ajmg.a.62214
Publication type:: Article

The Dysmorphology Unit from 1976 to 1980: Fleeting fellow, deformations, and John Graham.

Published in:: American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2622, doi. 10.1002/ajmg.a.62211
Publication type:: Article

Fifty years of recognizable patterns of human malformation: Insights and opportunities.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2653, doi. 10.1002/ajmg.a.62240

By:

Innes, A. Micheil;
Lynch, Danielle C.

Publication type:

Article

Thinking outside "The Box": Case‐based didactics for medical education and the instructional legacy of Dr John M. Graham, Jr.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2636, doi. 10.1002/ajmg.a.62202

By:

Sanchez‐Lara, Pedro A.;
Grand, Katheryn;
Haanpää, Maria K.;
Curry, Cynthia J.;
Wang, Raymond;
Ezgü, Fatih;
Rose, Catherine M.;
D'Cunha Burkardt, Deepika;
Conway, Robert L.;
Relan, Anju;
Carey, John C.

Publication type:

Article

Direct visualization of the evolution of limb amputation in amnion rupture sequence in an extremely preterm infant born at 22 weeks.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2821, doi. 10.1002/ajmg.a.62137

By:

Yamada, Mamiko;
Arimitsu, Takeshi;
Osada, Asami;
Kosaki, Kenjiro

Publication type:

Article

Deformations associated with arthrogryposis.

Published in:: American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2676, doi. 10.1002/ajmg.a.62151
Publication type:: Article

Partners in care.

Published in:: American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2630, doi. 10.1002/ajmg.a.62149
Publication type:: Article

3137 fetuses in 33 years: What we have learned from the Wisconsin stillbirth service program.

Published in:: American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2683, doi. 10.1002/ajmg.a.62143
Publication type:: Article

A journey towards answers: Bonnie Odgers Meets Dr. John Graham.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2627, doi. 10.1002/ajmg.a.62210

By:

Scott, Anna‐Lisa;
Odgers, Bonnie

Publication type:

Article

Parent‐authored memoirs: Lessons in the practice of narrative medicine.

Published in:: American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2846, doi. 10.1002/ajmg.a.62107
Publication type:: Article

To John M. Graham Jr, who called me into a career in clinical genetics.

Published in:: American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2646, doi. 10.1002/ajmg.a.62200
Publication type:: Article

Hedgehog acyl‐transferase‐related multiple congenital anomalies: Report of an additional family and delineation of the syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2756, doi. 10.1002/ajmg.a.62186

By:

Pande, Shruti;
Radhakrishnan, Periyasamy;
Shetty, Naveenchandra M.;
Shukla, Anju;
Girisha, Katta M.

Publication type:

Article

Reflections on a career in dysmorphology, teratology, and clinical genetics.

Published in:: American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2620, doi. 10.1002/ajmg.a.62171
Publication type:: Article

The spectrum of brain malformations and disruptions in twins.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2690, doi. 10.1002/ajmg.a.61972

By:

Park, Kaylee B.;
Chapman, Teresa;
Aldinger, Kimberly A.;
Mirzaa, Ghayda M.;
Zeiger, Jordan;
Beck, Anita;
Glass, Ian A.;
Hevner, Robert F.;
Jansen, Anna C.;
Marshall, Desiree A.;
Oegema, Renske;
Parrini, Elena;
Saneto, Russell P.;
Curry, Cynthia J.;
Hall, Judith G.;
Guerrini, Renzo;
Leventer, Richard J.;
Dobyns, William B.

Publication type:

Article

Expanding the phenotypic spectrum of RPL13‐related skeletal dysplasia.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2776, doi. 10.1002/ajmg.a.61965

By:

Reinsch, Breann;
Grand, Katheryn;
Lachman, Ralph S.;
Kim, Harry K. W.;
Sanchez‐Lara, Pedro A.

Publication type:

Article

Survey of disorders of sex development in a large cohort of patients with diverse Mendelian phenotypes.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2789, doi. 10.1002/ajmg.a.61876

By:

Abualsaud, Dalia;
Hashem, Mais;
AlHashem, Amal;
Alkuraya, Fowzan S.

Publication type:

Article

Cover Image, Volume 185A, Number 9, September 2021.

Published in:: American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. i, doi. 10.1002/ajmg.a.61696
Publication type:: Article

Publication schedule for 2021.

Published in:: American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2615, doi. 10.1002/ajmg.a.61692
Publication type:: Article

Table of Contents, Volume 185A, Number 9, September 2021.

Published in:: American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2611, doi. 10.1002/ajmg.a.61691
Publication type:: Article