Prominent publications by John B Mulliken
Lymphatic and Other Vascular Malformative/Overgrowth Disorders Are Caused by Somatic Mutations in PIK3CA
[ PUBLICATION ]
OBJECTIVES: To test the hypothesis that somatic phosphatidylinositol-4,5-bisphospate 3-kinase, catalytic subunit alpha (PIK3CA) mutations would be found in patients with more common disorders including isolated lymphatic malformation (LM) and Klippel-Trenaunay syndrome (KTS).
STUDY DESIGN: We used next generation sequencing, droplet digital polymerase chain reaction, and single molecule molecular inversion probes to search for somatic PIK3CA mutations in affected tissue from patients ...
|Also Ranks for: Somatic Mutations | patients lm | overgrowth disorders | boston childrens hospital | 3 kinases|
Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling
[ PUBLICATION ]
BACKGROUND: Most arteriovenous malformations (AVMs) are localized and occur sporadically. However, they also can be multifocal in autosomal-dominant disorders, such as hereditary hemorrhagic telangiectasia and capillary malformation (CM)-AVM. Previously, we identified RASA1 mutations in 50% of patients with CM-AVM. Herein we studied non-RASA1 patients to further elucidate the pathogenicity of CMs and AVMs.
METHODS: We conducted a genome-wide linkage study on a CM-AVM family. Whole-exome ...
|Also Ranks for: Function Mutations | arteriovenous malformation | multifocal cms | patients cmavm | large series|
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast‐flow vascular anomalies are caused by RASA1 mutations
[ PUBLICATION ]
Capillary malformation-arteriovenous malformation (CM-AVM) is a newly recognized autosomal dominant disorder, caused by mutations in the RASA1 gene in six families. Here we report 42 novel RASA1 mutations and the associated phenotype in 44 families. The penetrance and de novo occurrence were high. All affected individuals presented multifocal capillary malformations (CMs), which represent the hallmark of the disorder. Importantly, one-third had fast-flow vascular lesions. Among them, we ...
|Also Ranks for: Rasa1 Mutations | parkes weber syndrome | galen aneurysmal malformation | flow vascular | neurofibromatosis type|
Appropriate management of posterior plagiocephaly requires differentiation of occipitoparietal flattening caused by lambdoid synostosis from that caused by deformational forces. In a 2 1/2-year prospective study of 115 infants presenting with unilateral posterior cranial flattening, only one child had synostotic posterior plagiocephaly (lambdoid synostosis), whereas 114 infants had deformational posterior plagiocephaly. Deformational occipitoparietal flattening was more common on the ...
|Also Ranks for: Posterior Plagiocephaly | lambdoid synostosis | female head | ipsilateral ear | physical findings|
RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation–Arteriovenous Malformation
[ PUBLICATION ]
Capillary malformation-arteriovenous malformation (CM-AVM) is an autosomal-dominant disorder, caused by heterozygous RASA1 mutations, and manifesting multifocal CMs and high risk for fast-flow lesions. A limited number of patients have been reported, raising the question of the phenotypic borders. We identified new patients with a clinical diagnosis of CM-AVM, and patients with overlapping phenotypes. RASA1 was screened in 261 index patients with: CM-AVM (n = 100), common CM(s) ...
|Also Ranks for: Rasa1 Mutations | arteriovenous malformation | cmavm patients | overlapping phenotypes | multifocal cms|
BACKGROUND: The GILLS score consists of gastroesophageal reflux disease, preoperative intubation, late surgical intervention, low birth weight, and syndromic diagnosis. The purpose of this study was to test the validity of the GILLS score in predicting success of tongue-lip adhesion (TLA) in managing Robin sequence.
|Also Ranks for: Robin Sequence | gills score | tla infants | lip adhesion | airway compromise|
Blue rubber bleb nevus syndrome (Bean syndrome) is a rare, severe disorder of unknown cause, characterized by numerous cutaneous and internal venous malformations; gastrointestinal lesions are pathognomonic. We discovered somatic mutations in TEK, the gene encoding TIE2, in 15 of 17 individuals with blue rubber bleb nevus syndrome. Somatic mutations were also identified in five of six individuals with sporadically occurring multifocal venous malformations. In contrast to common unifocal ...
|Also Ranks for: Blue Rubber | bleb nevus | somatic mutations | gastrointestinal lesions | venous malformations|
BACKGROUND: Families in the United States adopted approximately 230,000 foreign-born children over the past two decades. Age at adoption and the presence of a cleft palate impact speech and language development. The authors' purpose is to document speech outcome after palatal closure in internationally adopted children.
METHODS: The authors reviewed internationally adopted children with cleft lip-cleft palate or cleft palate who had two-flap palatoplasty from 1987 to 2010. Data collected ...
|Also Ranks for: Internationally Adopted Children | cleft palate | age adoption | palatal closure | velopharyngeal insufficiency|
Hemifacial microsomia (HFM) is associated with a difficult airway. We hypothesized that a difficult intubation would be predicted by radiographic evaluation of the severity of mandibular hypoplasia. A retrospective review of anaesthetic and surgical records of 102 children with HFM from 1986 to 1996 was conducted for radiographic classification of mandibular hypoplasia and degree of difficulty with intubation. Intubation was classified as Grade A-easy, Grade B-difficult, or Grade C-very ...
|Also Ranks for: Difficult Intubation | hemifacial microsomia | mandibular hypoplasia | children hfm | facial asymmetry|
BACKGROUND: Large numbers of international children with cleft lip-cleft palate are adopted in the United States; many underwent their first operation before arrival.
METHODS: The authors reviewed records of internationally adopted children with cleft lip-cleft palate treated by one surgeon over 25 years. This study focused on anatomical types, frequency/methods of repair, correction of unrepaired deformities, and secondary procedures in this country.
RESULTS: Of 105 internationally ...
|Also Ranks for: Cleft Lip | internationally adopted children | united states | surgical procedures | palate adopted|
[ PUBLICATION ]
Pyogenic granuloma (lobular capillary hemangioma) is a common acquired vascular lesion of the skin and mucous membranes in the pediatric age group. This is a retrospective analysis of 178 patients, 17 years of age and younger (mean age 6.7 yrs). Forty-two percent of the lesions occurred in the first five years of life; only 12% appeared in infants less than 1 year old. The male:female ratio was 3:2. Most patients (74.2%) had no history of trauma or predisposing dermatologic condition. ...
|Also Ranks for: Pyogenic Granuloma | lobular capillary hemangioma | clinicopathologic study | mucous membranes | oral cavity|
Congenital auricular anomalies can be categorized as either malformed or deformational. Auricular deformations most commonly affect the helix and antehelix. Surgical correction involves sutural modeling, wedge excision, reshaping and reversing cartilage segments, and morselization. Since neonatal auricular cartilage is extremely pliable, we used early splinting to correct deformational ear anomalies. Splints were constructed of leadfree, soft soldering wire threaded into polyethylene ...
|Also Ranks for: Molding Therapy | auricular anomalies | surgical correction | prominent ears | skin irritation|
Key People For Rasa1 Mutations
John B Mulliken:Expert Impact
Concepts for whichJohn B Mullikenhas direct influence:Rasa1 mutations, Vascular malformations, Cranial base, Hemifacial microsomia, Posterior plagiocephaly, Internationally adopted children, Somatic mutations, Möbius syndrome.
John B Mulliken:KOL impact
Concepts related to the work of other authors for whichfor which John B Mulliken has influence:Vascular anomalies, Hemifacial microsomia, Cleft lip, Pyogenic granuloma, Deformational plagiocephaly, Bone graft, Helmet therapy.
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