Search Results - "Saal HM"

Outcomes of a genetics education program for nursing faculty.

Authors: Prows CA Hetteberg C Johnson N et al.

Source: Nursing Education Perspectives (National League for Nursing). Mar/Apr2003, Vol. 24 Issue 2, p81-85. 5p.

URL: 9427904

Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome.

Authors: Garzon JP Patete A Aschbacher-Smith L et al.

Source: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2024 Dec; Vol. 196 (4), pp. e32095. Date of Electronic Publication: 2024 Jul 18.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE

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

Authors: Weaver KN Sullivan BR Balow SA et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Jan; Vol. 188 (1), pp. 160-177. Date of Electronic Publication: 2021 Sep 27.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

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

Authors: Abell K Hopkin RJ Bender PL et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Feb; Vol. 185 (2), pp. 413-423. Date of Electronic Publication: 2020 Nov 27.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Prenatal diagnosis of Proteus syndrome: Diagnosis of an AKT1 mutation from amniocytes.

Authors: Abell K Tolusso L Smith N et al.

Source: Birth defects research [Birth Defects Res] 2020 Nov; Vol. 112 (19), pp. 1733-1737. Date of Electronic Publication: 2020 Sep 15.

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101701004 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2472-1727 (Electronic) NLM ISO Abbreviation: Birth Defects Res Subsets: MEDLINE

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

Authors: Miraldi Utz V Brightman DS Sandoval MA et al.

Source: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2020 Sep; Vol. 184 (3), pp. 644-655. Date of Electronic Publication: 2020 Sep 05.

Publication Type: Case Reports; Journal Article; Review

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE

Characterization of tracheobronchomalacia in infants with hypophosphatasia.

Authors: Padidela R Yates R Benscoter D et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Aug 06; Vol. 15 (1), pp. 204. Date of Electronic Publication: 2020 Aug 06.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Vosoritide therapy in children with achondroplasia aged 3-59 months: a multinational, randomised, double-blind, placebo-controlled, phase 2 trial.

Authors: Savarirayan R Wilcox WR Harmatz P et al.

Source: The Lancet. Child & adolescent health [Lancet Child Adolesc Health] 2024 Jan; Vol. 8 (1), pp. 40-50. Date of Electronic Publication: 2023 Nov 18.

Publication Type: Clinical Trial, Phase II; Journal Article; Multicenter Study; Randomized Controlled Trial; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Elsevier Ltd Country of Publication: England NLM ID: 101712925 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2352-4650 (Electronic) Linking ISSN: 23524642 NLM ISO Abbreviation: Lancet Child Adolesc Health Subsets: MEDLINE

Using human sequencing to guide craniofacial research.

Authors: Liegel RP Finnerty E Blizzard L et al.

Source: Genesis (New York, N.Y. : 2000) [Genesis] 2019 Jan; Vol. 57 (1), pp. e23259. Date of Electronic Publication: 2018 Dec 21.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 100931242 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-968X (Electronic) Linking ISSN: 1526954X NLM ISO Abbreviation: Genesis Subsets: MEDLINE

Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study.

Authors: Savarirayan R Irving M Harmatz P et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Dec; Vol. 24 (12), pp. 2444-2452. Date of Electronic Publication: 2022 Sep 16.

Publication Type: Observational Study; Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Fowler syndrome and fetal MRI findings: a genetic disorder mimicking hydranencephaly/hydrocephalus.

Authors: Kline-Fath BM Merrow AC Jr Calvo-Garcia MA et al.

Source: Pediatric radiology [Pediatr Radiol] 2018 Jul; Vol. 48 (7), pp. 1032-1034. Date of Electronic Publication: 2018 Mar 14.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0365332 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1998 (Electronic) Linking ISSN: 03010449 NLM ISO Abbreviation: Pediatr Radiol Subsets: MEDLINE

Family History Collection Practices: National Survey of Pediatric Primary Care Providers.

Authors: Tarini BA Gornick MC Zikmund-Fisher BJ et al.

Source: Clinical pediatrics [Clin Pediatr (Phila)] 2018 May; Vol. 57 (5), pp. 537-546. Date of Electronic Publication: 2017 Oct 16.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Sage Publications Country of Publication: United States NLM ID: 0372606 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1938-2707 (Electronic) Linking ISSN: 00099228 NLM ISO Abbreviation: Clin Pediatr (Phila)

Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study.

Authors: Savarirayan R Tofts L Irving M et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Dec; Vol. 23 (12), pp. 2443-2447. Date of Electronic Publication: 2021 Aug 02.

Publication Type: Clinical Trial, Phase III; Journal Article; Randomized Controlled Trial; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Best Practices for the Diagnosis and Evaluation of Infants With Robin Sequence: A Clinical Consensus Report.

Authors: Breugem CC Evans KN Poets CF et al.

Source: JAMA pediatrics [JAMA Pediatr] 2016 Sep 01; Vol. 170 (9), pp. 894-902.

Publication Type: Journal Article; Review; Consensus Statement

Journal Info: Publisher: American Medical Association Country of Publication: United States NLM ID: 101589544 Publication Model: Print Cited Medium: Internet ISSN: 2168-6211 (Electronic) Linking ISSN: 21686203 NLM ISO Abbreviation: JAMA Pediatr Subsets: MEDLINE

Decision Making for Children with Obstructive Sleep Apnea without Tonsillar Hypertrophy.

Authors: Ishman SL Tang A Cohen AP et al.

Source: Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery [Otolaryngol Head Neck Surg] 2016 Mar; Vol. 154 (3), pp. 527-31. Date of Electronic Publication: 2015 Dec 08.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 8508176 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6817 (Electronic) Linking ISSN: 01945998 NLM ISO Abbreviation: Otolaryngol Head Neck Surg Subsets: MEDLINE

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

Authors: Hufnagel RB Zimmerman SL Krueger LA et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2016 Feb; Vol. 170A (2), pp. 487-491. Date of Electronic Publication: 2015 Nov 18.

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Fetal Micrognathia and Airway Establishment on Placental Support.

Authors: Riddle S Lim FY Rutter M et al.

Source: NeoReviews [Neoreviews] 2021 Jan; Vol. 22 (1), pp. e73-e77.

Publication Type: Journal Article

Journal Info: Publisher: American Academy of Pediatrics Country of Publication: United States NLM ID: 101085360 Publication Model: Print Cited Medium: Internet ISSN: 1526-9906 (Electronic) Linking ISSN: 15269906 NLM ISO Abbreviation: Neoreviews Subsets: MEDLINE

Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial.

Authors: Savarirayan R Tofts L Irving M et al.

Source: Lancet (London, England) [Lancet] 2020 Sep 05; Vol. 396 (10252), pp. 684-692.

Publication Type: Clinical Trial, Phase III; Journal Article; Multicenter Study; Randomized Controlled Trial; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Elsevier Country of Publication: England NLM ID: 2985213R Publication Model: Print Cited Medium: Internet ISSN: 1474-547X (Electronic) Linking ISSN: 01406736 NLM ISO Abbreviation: Lancet Subsets: MEDLINE

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

Authors: Saal HM Prows CA Guerreiro I et al.

Source: Human molecular genetics [Hum Mol Genet] 2015 Jun 15; Vol. 24 (12), pp. 3399-409. Date of Electronic Publication: 2015 Mar 10.

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

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

Authors: Weaver KN Johnson J Kline-Fath B et al.

Source: Prenatal diagnosis [Prenat Diagn] 2014 Dec; Vol. 34 (13), pp. 1326-31. Date of Electronic Publication: 2014 Aug 26.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE