Saal HM - Search Results

1

Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features.

Russell BE, Rigueur D, Weaver KN, Sund K, Basil JS, Hufnagel RB, Prows CA, Oestreich A, Al-Gazali L, Hopkin RJ, Saal HM, Lyons K, Dauber A. Russell BE, et al. Among authors: saal hm. Mol Genet Genomic Med. 2019 Nov;7(11):e969. doi: 10.1002/mgg3.969. Epub 2019 Sep 7. Mol Genet Genomic Med. 2019. PMID: 31493347 Free PMC article.

2

A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasia.

Saal HM, Prows CA, Guerreiro I, Donlin M, Knudson L, Sund KL, Chang CF, Brugmann SA, Stottmann RW. Saal HM, et al. Hum Mol Genet. 2015 Jun 15;24(12):3399-409. doi: 10.1093/hmg/ddv088. Epub 2015 Mar 10. Hum Mol Genet. 2015. PMID: 25759469 Free PMC article.

3

A new frontonasal dysplasia syndrome associated with deletion of the SIX2 gene.

Hufnagel RB, Zimmerman SL, Krueger LA, Bender PL, Ahmed ZM, Saal HM. Hufnagel RB, et al. Among authors: saal hm. Am J Med Genet A. 2016 Feb;170A(2):487-491. doi: 10.1002/ajmg.a.37441. Epub 2015 Nov 18. Am J Med Genet A. 2016. PMID: 26581443 Free PMC article.

4

Using human sequencing to guide craniofacial research.

Liegel RP, Finnerty E, Blizzard L, DiStasio A, Hufnagel RB, Saal HM, Sund KL, Prows CA, Stottmann RW. Liegel RP, et al. Among authors: saal hm. Genesis. 2019 Jan;57(1):e23259. doi: 10.1002/dvg.23259. Epub 2018 Dec 21. Genesis. 2019. PMID: 30375152 Free PMC article.

5

Predictive value of fetal lung volume in prenatally diagnosed skeletal dysplasia.

Weaver KN, Johnson J, Kline-Fath B, Zhang X, Lim FY, Tinkle B, Saal HM, Hopkin RJ. Weaver KN, et al. Among authors: saal hm. Prenat Diagn. 2014 Dec;34(13):1326-31. doi: 10.1002/pd.4475. Epub 2014 Aug 26. Prenat Diagn. 2014. PMID: 25102973

6

Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction.

Weaver KN, Watt KE, Hufnagel RB, Navajas Acedo J, Linscott LL, Sund KL, Bender PL, König R, Lourenco CM, Hehr U, Hopkin RJ, Lohmann DR, Trainor PA, Wieczorek D, Saal HM. Weaver KN, et al. Among authors: saal hm. Am J Hum Genet. 2015 May 7;96(5):765-74. doi: 10.1016/j.ajhg.2015.03.011. Epub 2015 Apr 23. Am J Hum Genet. 2015. PMID: 25913037 Free PMC article.

7

Systemic and ocular manifestations of a patient with mosaic ARID1A-associated Coffin-Siris syndrome and review of select mosaic conditions with ophthalmic manifestations.

Miraldi Utz V, Brightman DS, Sandoval MA, Hufnagel RB, Saal HM. Miraldi Utz V, et al. Among authors: saal hm. Am J Med Genet C Semin Med Genet. 2020 Sep;184(3):644-655. doi: 10.1002/ajmg.c.31839. Epub 2020 Sep 5. Am J Med Genet C Semin Med Genet. 2020. PMID: 32888375 Free PMC article. Review.

8

Upper airway malformation associated with partial trisomy 11q.

Zhao HQ, Rope AF, Saal HM, Blough-Pfau RI, Hopkin RJ. Zhao HQ, et al. Among authors: saal hm. Am J Med Genet A. 2003 Jul 30;120A(3):331-7. doi: 10.1002/ajmg.a.20134. Am J Med Genet A. 2003. PMID: 12838551

9

Characterization of congenital anomalies in individuals with choanal atresia.

Burrow TA, Saal HM, de Alarcon A, Martin LJ, Cotton RT, Hopkin RJ. Burrow TA, et al. Among authors: saal hm. Arch Otolaryngol Head Neck Surg. 2009 Jun;135(6):543-7. doi: 10.1001/archoto.2009.53. Arch Otolaryngol Head Neck Surg. 2009. PMID: 19528400

10

Small bowel malrotation in distal 15q duplication: evidence for a rare association.

McLaughlin BM, Hufnagel RB, Saal HM. McLaughlin BM, et al. Among authors: saal hm. Clin Dysmorphol. 2015 Apr;24(2):65-7. doi: 10.1097/MCD.0000000000000063. Clin Dysmorphol. 2015. PMID: 25415058 Free PMC article. No abstract available.

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