Saal HM - Search Results

1

Progressive laryngotracheal stenosis with short stature and arthropathy.

Hopkin RJ, Cotton R, Langer LO, Saal HM. Hopkin RJ, et al. Among authors: saal hm. Am J Med Genet. 1998 Nov 16;80(3):241-6. doi: 10.1002/(sici)1096-8628(19981116)80:3<241::aid-ajmg12>3.0.co;2-#. Am J Med Genet. 1998. PMID: 9843046

2

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

3

New insights into the phenotypes of 6q deletions.

Hopkin RJ, Schorry E, Bofinger M, Milatovich A, Stern HJ, Jayne C, Saal HM. Hopkin RJ, et al. Among authors: saal hm. Am J Med Genet. 1997 Jun 27;70(4):377-86. Am J Med Genet. 1997. PMID: 9182778 Review.

4

CHARGE syndrome in the era of molecular diagnosis: Similar outcomes in those without coloboma or choanal atresia.

Simpson BN, Khattar D, Saal H, Prada CE, Choo D, Marcheschi L, Wiley S, Hopkin RJ. Simpson BN, et al. Eur J Med Genet. 2021 Jan;64(1):104103. doi: 10.1016/j.ejmg.2020.104103. Epub 2020 Nov 12. Eur J Med Genet. 2021. PMID: 33189935

5

Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey.

Abell K, Hopkin RJ, Bender PL, Jackson F, Smallwood K, Sullivan B, Stottmann RW, Saal HM, Weaver KN. Abell K, et al. Among authors: saal hm. Am J Med Genet A. 2021 Feb;185(2):413-423. doi: 10.1002/ajmg.a.61977. Epub 2020 Nov 27. Am J Med Genet A. 2021. PMID: 33247512 Free PMC article.

6

Robin sequence without cleft palate: Genetic diagnoses and management implications.

Weaver KN, Sullivan BR, Balow SA, Hopkin S, Chini BA, Pan BS, Stottmann RW, Bender PL, Hopkin RJ, Zhang X, Saal HM. Weaver KN, et al. Among authors: saal hm. Am J Med Genet A. 2022 Jan;188(1):160-177. doi: 10.1002/ajmg.a.62515. Epub 2021 Sep 27. Am J Med Genet A. 2022. PMID: 34569146

7

Unexpected survival in a case of prenatally diagnosed non-mosaic trisomy 22: Clinical report and review of the natural history.

Tinkle BT, Walker ME, Blough-Pfau RI, Saal HM, Hopkin RJ. Tinkle BT, et al. Among authors: saal hm. Am J Med Genet A. 2003 Apr 1;118A(1):90-5. doi: 10.1002/ajmg.a.10216. Am J Med Genet A. 2003. PMID: 12605450

8

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

9

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.

10

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.

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